Incidental Mutation 'R4707:Nbeal2'
ID |
355340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nbeal2
|
Ensembl Gene |
ENSMUSG00000056724 |
Gene Name |
neurobeachin-like 2 |
Synonyms |
1110014F23Rik |
MMRRC Submission |
041955-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.256)
|
Stock # |
R4707 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110453857-110483229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110461123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1647
(S1647T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133191]
[ENSMUST00000167320]
[ENSMUST00000196488]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000123996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129095
|
Predicted Effect |
unknown
Transcript: ENSMUST00000130024
AA Change: S928T
|
SMART Domains |
Protein: ENSMUSP00000118061 Gene: ENSMUSG00000056724 AA Change: S928T
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
low complexity region
|
236 |
248 |
N/A |
INTRINSIC |
Pfam:DUF4704
|
345 |
607 |
2.5e-29 |
PFAM |
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
low complexity region
|
804 |
819 |
N/A |
INTRINSIC |
Pfam:DUF4800
|
872 |
1138 |
9.9e-113 |
PFAM |
low complexity region
|
1164 |
1193 |
N/A |
INTRINSIC |
Pfam:PH_BEACH
|
1204 |
1291 |
2.2e-21 |
PFAM |
Beach
|
1343 |
1623 |
5.2e-205 |
SMART |
WD40
|
1721 |
1766 |
1.03e1 |
SMART |
WD40
|
1769 |
1808 |
6.19e-5 |
SMART |
WD40
|
1820 |
1859 |
1.02e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131017
|
SMART Domains |
Protein: ENSMUSP00000114660 Gene: ENSMUSG00000056724
Domain | Start | End | E-Value | Type |
Pfam:DUF4800
|
1 |
209 |
7.5e-97 |
PFAM |
low complexity region
|
235 |
264 |
N/A |
INTRINSIC |
Pfam:PH_BEACH
|
275 |
362 |
1e-21 |
PFAM |
Beach
|
414 |
694 |
5.2e-205 |
SMART |
WD40
|
762 |
807 |
1.03e1 |
SMART |
WD40
|
810 |
849 |
6.19e-5 |
SMART |
WD40
|
861 |
900 |
1.02e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133191
AA Change: S1640T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000121373 Gene: ENSMUSG00000056724 AA Change: S1640T
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
Pfam:Laminin_G_3
|
578 |
818 |
5.9e-8 |
PFAM |
low complexity region
|
1014 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1128 |
1136 |
N/A |
INTRINSIC |
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
low complexity region
|
1359 |
1375 |
N/A |
INTRINSIC |
low complexity region
|
1515 |
1530 |
N/A |
INTRINSIC |
low complexity region
|
1621 |
1647 |
N/A |
INTRINSIC |
low complexity region
|
1875 |
1904 |
N/A |
INTRINSIC |
Pfam:PH_BEACH
|
1908 |
2002 |
6.2e-28 |
PFAM |
Beach
|
2054 |
2334 |
5.2e-205 |
SMART |
WD40
|
2432 |
2477 |
1.03e1 |
SMART |
WD40
|
2480 |
2519 |
6.19e-5 |
SMART |
WD40
|
2531 |
2570 |
1.02e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167320
AA Change: S1647T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128586 Gene: ENSMUSG00000056724 AA Change: S1647T
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
low complexity region
|
763 |
775 |
N/A |
INTRINSIC |
Pfam:DUF4704
|
872 |
1148 |
9.2e-32 |
PFAM |
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
low complexity region
|
1366 |
1382 |
N/A |
INTRINSIC |
low complexity region
|
1522 |
1537 |
N/A |
INTRINSIC |
Pfam:DUF4800
|
1590 |
1856 |
1.5e-112 |
PFAM |
low complexity region
|
1882 |
1911 |
N/A |
INTRINSIC |
Pfam:PH_BEACH
|
1922 |
2009 |
3.1e-21 |
PFAM |
Beach
|
2061 |
2341 |
5.2e-205 |
SMART |
WD40
|
2439 |
2484 |
1.03e1 |
SMART |
WD40
|
2487 |
2526 |
6.19e-5 |
SMART |
WD40
|
2538 |
2577 |
1.02e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196488
AA Change: S1613T
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000143265 Gene: ENSMUSG00000056724 AA Change: S1613T
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
low complexity region
|
487 |
495 |
N/A |
INTRINSIC |
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
Pfam:Laminin_G_3
|
551 |
791 |
5.3e-6 |
PFAM |
low complexity region
|
987 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1101 |
1109 |
N/A |
INTRINSIC |
low complexity region
|
1122 |
1136 |
N/A |
INTRINSIC |
low complexity region
|
1332 |
1348 |
N/A |
INTRINSIC |
low complexity region
|
1488 |
1503 |
N/A |
INTRINSIC |
low complexity region
|
1594 |
1620 |
N/A |
INTRINSIC |
low complexity region
|
1848 |
1877 |
N/A |
INTRINSIC |
Pfam:PH_BEACH
|
1881 |
1975 |
3.1e-25 |
PFAM |
Beach
|
2027 |
2307 |
3.8e-209 |
SMART |
WD40
|
2405 |
2450 |
6.3e-2 |
SMART |
WD40
|
2453 |
2492 |
3.8e-7 |
SMART |
WD40
|
2504 |
2543 |
6.5e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153960
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] PHENOTYPE: Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
G |
17: 9,224,544 (GRCm39) |
K450R |
probably damaging |
Het |
Abcd2 |
T |
C |
15: 91,043,385 (GRCm39) |
D601G |
probably benign |
Het |
Abcf3 |
A |
G |
16: 20,367,808 (GRCm39) |
K56E |
possibly damaging |
Het |
Acaca |
T |
C |
11: 84,203,680 (GRCm39) |
V1477A |
probably damaging |
Het |
Adamts20 |
G |
A |
15: 94,231,528 (GRCm39) |
P887L |
possibly damaging |
Het |
Ahnak |
T |
G |
19: 8,994,099 (GRCm39) |
S5128A |
probably benign |
Het |
Ahsa2 |
C |
A |
11: 23,443,162 (GRCm39) |
V197F |
probably benign |
Het |
Ak9 |
C |
A |
10: 41,221,456 (GRCm39) |
H402N |
probably benign |
Het |
Alpk1 |
G |
T |
3: 127,481,241 (GRCm39) |
N175K |
possibly damaging |
Het |
Als2 |
A |
G |
1: 59,254,472 (GRCm39) |
V295A |
probably benign |
Het |
Ankrd16 |
A |
G |
2: 11,783,608 (GRCm39) |
D70G |
probably damaging |
Het |
Apob |
A |
T |
12: 8,056,205 (GRCm39) |
K1562N |
probably damaging |
Het |
Arfgap2 |
C |
A |
2: 91,100,316 (GRCm39) |
S250R |
probably damaging |
Het |
Arhgef10l |
C |
T |
4: 140,264,194 (GRCm39) |
M671I |
possibly damaging |
Het |
Atrnl1 |
A |
G |
19: 57,617,590 (GRCm39) |
I122V |
probably damaging |
Het |
B4galnt2 |
C |
T |
11: 95,766,923 (GRCm39) |
|
probably null |
Het |
C8a |
A |
G |
4: 104,713,618 (GRCm39) |
Y171H |
probably damaging |
Het |
Cacnb4 |
A |
G |
2: 52,364,927 (GRCm39) |
V112A |
probably benign |
Het |
Capn9 |
G |
T |
8: 125,340,195 (GRCm39) |
C566F |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,397,956 (GRCm39) |
S230T |
probably benign |
Het |
Cd300c2 |
A |
T |
11: 114,887,811 (GRCm39) |
F197Y |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,445,039 (GRCm39) |
Y340C |
probably damaging |
Het |
Chrd |
A |
T |
16: 20,557,558 (GRCm39) |
I726F |
possibly damaging |
Het |
Chrna10 |
G |
A |
7: 101,762,426 (GRCm39) |
P255S |
possibly damaging |
Het |
Clasp1 |
T |
A |
1: 118,470,927 (GRCm39) |
Y197* |
probably null |
Het |
Cyp2c69 |
C |
G |
19: 39,837,852 (GRCm39) |
G410A |
probably benign |
Het |
Cyp2e1 |
G |
A |
7: 140,343,821 (GRCm39) |
V20I |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,638,928 (GRCm39) |
D225G |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,372,521 (GRCm39) |
D2924V |
probably damaging |
Het |
Efcab12 |
A |
T |
6: 115,791,510 (GRCm39) |
L554Q |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,246,311 (GRCm39) |
T228A |
possibly damaging |
Het |
Evc2 |
G |
A |
5: 37,579,204 (GRCm39) |
V1106I |
probably benign |
Het |
Exoc8 |
G |
T |
8: 125,624,209 (GRCm39) |
Q53K |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,189,344 (GRCm39) |
V1594D |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,887,543 (GRCm39) |
Y551C |
possibly damaging |
Het |
Fhip1a |
G |
T |
3: 85,595,877 (GRCm39) |
T115K |
probably damaging |
Het |
Fmnl3 |
A |
G |
15: 99,221,362 (GRCm39) |
M481T |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,883,097 (GRCm39) |
N2543S |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,209,428 (GRCm39) |
D138G |
probably damaging |
Het |
Gda |
C |
T |
19: 21,405,992 (GRCm39) |
V5I |
probably benign |
Het |
Glt8d2 |
A |
T |
10: 82,496,583 (GRCm39) |
D158E |
probably damaging |
Het |
Gpx6 |
C |
T |
13: 21,496,434 (GRCm39) |
Q3* |
probably null |
Het |
Greb1l |
A |
G |
18: 10,532,922 (GRCm39) |
M830V |
probably benign |
Het |
Hnrnpul1 |
A |
C |
7: 25,426,258 (GRCm39) |
V531G |
probably damaging |
Het |
Ifi206 |
A |
T |
1: 173,308,432 (GRCm39) |
H521Q |
probably benign |
Het |
Igsf3 |
G |
C |
3: 101,365,410 (GRCm39) |
R1127P |
probably benign |
Het |
Il1rl1 |
A |
G |
1: 40,489,348 (GRCm39) |
R367G |
probably damaging |
Het |
Islr |
T |
C |
9: 58,064,970 (GRCm39) |
D179G |
possibly damaging |
Het |
Jcad |
G |
T |
18: 4,649,338 (GRCm39) |
E70* |
probably null |
Het |
Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
Lrrc27 |
A |
G |
7: 138,822,614 (GRCm39) |
T502A |
probably benign |
Het |
Lrrtm3 |
T |
A |
10: 63,923,781 (GRCm39) |
H462L |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,140,168 (GRCm39) |
L44S |
probably damaging |
Het |
Mccc1 |
C |
A |
3: 36,030,022 (GRCm39) |
M429I |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,691,566 (GRCm39) |
|
probably null |
Het |
Mipep |
T |
A |
14: 61,109,552 (GRCm39) |
I643N |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,965,457 (GRCm39) |
I1162L |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mug1 |
G |
A |
6: 121,861,600 (GRCm39) |
C1354Y |
probably damaging |
Het |
Ndufaf2 |
C |
G |
13: 108,189,314 (GRCm39) |
A145P |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,051 (GRCm39) |
|
probably null |
Het |
Nr4a2 |
T |
A |
2: 57,002,105 (GRCm39) |
H116L |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,951,665 (GRCm39) |
Y232C |
probably damaging |
Het |
Odf4 |
A |
G |
11: 68,817,514 (GRCm39) |
L58P |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,193,883 (GRCm39) |
V12D |
probably benign |
Het |
Or4a27 |
T |
A |
2: 88,559,056 (GRCm39) |
M296L |
possibly damaging |
Het |
Or4c116 |
A |
T |
2: 88,942,576 (GRCm39) |
F93L |
probably damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,990 (GRCm39) |
L215H |
probably damaging |
Het |
Or7e165 |
C |
T |
9: 19,694,596 (GRCm39) |
H18Y |
probably damaging |
Het |
Or8g24 |
A |
G |
9: 38,989,558 (GRCm39) |
V161A |
probably benign |
Het |
Or8s5 |
G |
T |
15: 98,238,659 (GRCm39) |
H70Q |
possibly damaging |
Het |
Orc6 |
T |
A |
8: 86,029,579 (GRCm39) |
I41K |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,307,005 (GRCm39) |
T1798A |
probably benign |
Het |
Prdx6b |
T |
C |
2: 80,123,404 (GRCm39) |
L71P |
probably damaging |
Het |
Prmt2 |
A |
G |
10: 76,062,055 (GRCm39) |
I50T |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,143,482 (GRCm39) |
|
probably null |
Het |
Pygl |
T |
C |
12: 70,254,532 (GRCm39) |
T138A |
possibly damaging |
Het |
Rab3c |
T |
C |
13: 110,198,434 (GRCm39) |
E198G |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,812,196 (GRCm39) |
Y255C |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,699,393 (GRCm39) |
S1297T |
probably damaging |
Het |
Rgma |
C |
A |
7: 73,067,564 (GRCm39) |
T367K |
probably damaging |
Het |
Rps6ka5 |
C |
T |
12: 100,564,144 (GRCm39) |
|
probably null |
Het |
Rslcan18 |
A |
T |
13: 67,246,590 (GRCm39) |
C217S |
probably damaging |
Het |
Rtp3 |
A |
G |
9: 110,815,279 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,745,087 (GRCm39) |
N3848K |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,381,779 (GRCm39) |
T923S |
probably benign |
Het |
Serpinb6d |
A |
T |
13: 33,855,336 (GRCm39) |
T337S |
possibly damaging |
Het |
Sf3b1 |
G |
A |
1: 55,029,666 (GRCm39) |
T1112M |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sidt1 |
A |
T |
16: 44,090,221 (GRCm39) |
Y369* |
probably null |
Het |
Slc16a6 |
A |
G |
11: 109,354,193 (GRCm39) |
S59P |
probably benign |
Het |
Slc25a17 |
A |
C |
15: 81,211,527 (GRCm39) |
L163W |
probably damaging |
Het |
Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,197 (GRCm39) |
T1081A |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,116,431 (GRCm39) |
D456G |
probably benign |
Het |
Sycp1 |
C |
A |
3: 102,760,805 (GRCm39) |
A703S |
possibly damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,225 (GRCm39) |
M279L |
probably benign |
Het |
Tc2n |
T |
G |
12: 101,660,832 (GRCm39) |
Q133H |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,399,468 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
C |
7: 96,423,253 (GRCm39) |
K683Q |
probably damaging |
Het |
Tex10 |
A |
T |
4: 48,468,984 (GRCm39) |
S64T |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,072,525 (GRCm39) |
T2691A |
probably benign |
Het |
Tmem175 |
A |
T |
5: 108,790,016 (GRCm39) |
T123S |
probably damaging |
Het |
Tsc1 |
C |
A |
2: 28,562,419 (GRCm39) |
S348R |
probably damaging |
Het |
Ttll4 |
A |
T |
1: 74,718,166 (GRCm39) |
T6S |
possibly damaging |
Het |
Ttll8 |
A |
T |
15: 88,801,293 (GRCm39) |
I465N |
probably damaging |
Het |
Ubr3 |
A |
G |
2: 69,768,714 (GRCm39) |
|
probably benign |
Het |
Ugdh |
A |
T |
5: 65,580,695 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
C |
11: 23,437,215 (GRCm39) |
L3326S |
probably damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,276 (GRCm39) |
I21F |
probably damaging |
Het |
Vps9d1 |
G |
A |
8: 123,975,351 (GRCm39) |
|
probably benign |
Het |
Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
Zbtb12 |
T |
C |
17: 35,114,475 (GRCm39) |
S87P |
probably damaging |
Het |
Zc3h12a |
A |
G |
4: 125,014,686 (GRCm39) |
M266T |
probably damaging |
Het |
Zfp108 |
G |
A |
7: 23,959,837 (GRCm39) |
A143T |
probably benign |
Het |
|
Other mutations in Nbeal2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Nbeal2
|
APN |
9 |
110,464,937 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00784:Nbeal2
|
APN |
9 |
110,458,831 (GRCm39) |
splice site |
probably benign |
|
IGL00826:Nbeal2
|
APN |
9 |
110,455,971 (GRCm39) |
missense |
probably benign |
|
IGL00885:Nbeal2
|
APN |
9 |
110,467,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Nbeal2
|
APN |
9 |
110,458,214 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01511:Nbeal2
|
APN |
9 |
110,458,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01571:Nbeal2
|
APN |
9 |
110,461,826 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01612:Nbeal2
|
APN |
9 |
110,473,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Nbeal2
|
APN |
9 |
110,460,482 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02056:Nbeal2
|
APN |
9 |
110,456,392 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02481:Nbeal2
|
APN |
9 |
110,455,063 (GRCm39) |
nonsense |
probably null |
|
IGL02483:Nbeal2
|
APN |
9 |
110,455,063 (GRCm39) |
nonsense |
probably null |
|
IGL02502:Nbeal2
|
APN |
9 |
110,462,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02631:Nbeal2
|
APN |
9 |
110,459,276 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02637:Nbeal2
|
APN |
9 |
110,455,045 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02727:Nbeal2
|
APN |
9 |
110,468,353 (GRCm39) |
splice site |
probably benign |
|
IGL02887:Nbeal2
|
APN |
9 |
110,457,344 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02896:Nbeal2
|
APN |
9 |
110,468,360 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03110:Nbeal2
|
APN |
9 |
110,460,501 (GRCm39) |
missense |
probably damaging |
1.00 |
Antonym
|
UTSW |
9 |
110,459,320 (GRCm39) |
missense |
probably damaging |
1.00 |
Beowulf
|
UTSW |
9 |
110,467,005 (GRCm39) |
missense |
possibly damaging |
0.65 |
Blackmail
|
UTSW |
9 |
110,458,707 (GRCm39) |
missense |
probably damaging |
1.00 |
dog
|
UTSW |
9 |
110,464,409 (GRCm39) |
missense |
possibly damaging |
0.89 |
extortion
|
UTSW |
9 |
110,459,311 (GRCm39) |
missense |
probably damaging |
1.00 |
legion
|
UTSW |
9 |
110,458,247 (GRCm39) |
missense |
probably damaging |
1.00 |
litigious
|
UTSW |
9 |
110,457,263 (GRCm39) |
missense |
probably damaging |
1.00 |
mall
|
UTSW |
9 |
110,461,954 (GRCm39) |
missense |
probably damaging |
1.00 |
Mollusca
|
UTSW |
9 |
110,474,506 (GRCm39) |
splice site |
probably null |
|
Schleuter
|
UTSW |
9 |
110,457,812 (GRCm39) |
missense |
possibly damaging |
0.69 |
shellfish
|
UTSW |
9 |
110,457,788 (GRCm39) |
missense |
probably damaging |
1.00 |
Sophomoric
|
UTSW |
9 |
110,462,115 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Nbeal2
|
UTSW |
9 |
110,467,005 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0032:Nbeal2
|
UTSW |
9 |
110,466,936 (GRCm39) |
splice site |
probably benign |
|
R0084:Nbeal2
|
UTSW |
9 |
110,472,778 (GRCm39) |
critical splice donor site |
probably null |
|
R0147:Nbeal2
|
UTSW |
9 |
110,471,211 (GRCm39) |
nonsense |
probably null |
|
R0294:Nbeal2
|
UTSW |
9 |
110,461,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R0310:Nbeal2
|
UTSW |
9 |
110,467,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Nbeal2
|
UTSW |
9 |
110,456,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R0550:Nbeal2
|
UTSW |
9 |
110,471,226 (GRCm39) |
missense |
probably benign |
0.01 |
R0630:Nbeal2
|
UTSW |
9 |
110,465,102 (GRCm39) |
splice site |
probably benign |
|
R0762:Nbeal2
|
UTSW |
9 |
110,472,876 (GRCm39) |
splice site |
probably benign |
|
R0862:Nbeal2
|
UTSW |
9 |
110,457,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R0864:Nbeal2
|
UTSW |
9 |
110,457,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R1225:Nbeal2
|
UTSW |
9 |
110,461,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Nbeal2
|
UTSW |
9 |
110,456,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R1450:Nbeal2
|
UTSW |
9 |
110,462,740 (GRCm39) |
splice site |
probably benign |
|
R1519:Nbeal2
|
UTSW |
9 |
110,465,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Nbeal2
|
UTSW |
9 |
110,461,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R1668:Nbeal2
|
UTSW |
9 |
110,467,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Nbeal2
|
UTSW |
9 |
110,454,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Nbeal2
|
UTSW |
9 |
110,459,925 (GRCm39) |
nonsense |
probably null |
|
R1834:Nbeal2
|
UTSW |
9 |
110,456,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Nbeal2
|
UTSW |
9 |
110,461,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Nbeal2
|
UTSW |
9 |
110,463,139 (GRCm39) |
missense |
probably benign |
0.09 |
R2014:Nbeal2
|
UTSW |
9 |
110,463,139 (GRCm39) |
missense |
probably benign |
0.09 |
R2055:Nbeal2
|
UTSW |
9 |
110,464,375 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2086:Nbeal2
|
UTSW |
9 |
110,463,139 (GRCm39) |
missense |
probably benign |
0.09 |
R2113:Nbeal2
|
UTSW |
9 |
110,454,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R2167:Nbeal2
|
UTSW |
9 |
110,467,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Nbeal2
|
UTSW |
9 |
110,459,318 (GRCm39) |
missense |
probably benign |
0.16 |
R2309:Nbeal2
|
UTSW |
9 |
110,455,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R2378:Nbeal2
|
UTSW |
9 |
110,459,876 (GRCm39) |
missense |
probably damaging |
0.99 |
R2945:Nbeal2
|
UTSW |
9 |
110,457,136 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3052:Nbeal2
|
UTSW |
9 |
110,462,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3076:Nbeal2
|
UTSW |
9 |
110,460,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R3176:Nbeal2
|
UTSW |
9 |
110,465,955 (GRCm39) |
splice site |
probably benign |
|
R3974:Nbeal2
|
UTSW |
9 |
110,462,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4183:Nbeal2
|
UTSW |
9 |
110,465,743 (GRCm39) |
missense |
probably benign |
|
R4342:Nbeal2
|
UTSW |
9 |
110,460,861 (GRCm39) |
intron |
probably benign |
|
R4654:Nbeal2
|
UTSW |
9 |
110,461,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Nbeal2
|
UTSW |
9 |
110,465,383 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4854:Nbeal2
|
UTSW |
9 |
110,460,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Nbeal2
|
UTSW |
9 |
110,464,262 (GRCm39) |
missense |
probably benign |
0.00 |
R4860:Nbeal2
|
UTSW |
9 |
110,464,262 (GRCm39) |
missense |
probably benign |
0.00 |
R4990:Nbeal2
|
UTSW |
9 |
110,463,871 (GRCm39) |
missense |
probably benign |
0.10 |
R4991:Nbeal2
|
UTSW |
9 |
110,467,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Nbeal2
|
UTSW |
9 |
110,466,531 (GRCm39) |
missense |
probably damaging |
0.99 |
R5057:Nbeal2
|
UTSW |
9 |
110,460,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Nbeal2
|
UTSW |
9 |
110,455,796 (GRCm39) |
splice site |
probably null |
|
R5161:Nbeal2
|
UTSW |
9 |
110,458,936 (GRCm39) |
missense |
probably benign |
|
R5202:Nbeal2
|
UTSW |
9 |
110,473,734 (GRCm39) |
missense |
probably damaging |
0.99 |
R5217:Nbeal2
|
UTSW |
9 |
110,461,158 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5408:Nbeal2
|
UTSW |
9 |
110,466,588 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5540:Nbeal2
|
UTSW |
9 |
110,460,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R5866:Nbeal2
|
UTSW |
9 |
110,460,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Nbeal2
|
UTSW |
9 |
110,458,948 (GRCm39) |
missense |
probably benign |
0.00 |
R6057:Nbeal2
|
UTSW |
9 |
110,470,945 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6180:Nbeal2
|
UTSW |
9 |
110,454,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Nbeal2
|
UTSW |
9 |
110,457,058 (GRCm39) |
critical splice donor site |
probably null |
|
R6232:Nbeal2
|
UTSW |
9 |
110,467,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R6372:Nbeal2
|
UTSW |
9 |
110,457,812 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6423:Nbeal2
|
UTSW |
9 |
110,455,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R6543:Nbeal2
|
UTSW |
9 |
110,473,526 (GRCm39) |
missense |
probably benign |
|
R6648:Nbeal2
|
UTSW |
9 |
110,466,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R6722:Nbeal2
|
UTSW |
9 |
110,462,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R6738:Nbeal2
|
UTSW |
9 |
110,465,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6916:Nbeal2
|
UTSW |
9 |
110,455,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6935:Nbeal2
|
UTSW |
9 |
110,468,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R7022:Nbeal2
|
UTSW |
9 |
110,467,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7023:Nbeal2
|
UTSW |
9 |
110,467,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7050:Nbeal2
|
UTSW |
9 |
110,457,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7072:Nbeal2
|
UTSW |
9 |
110,455,119 (GRCm39) |
missense |
probably benign |
0.01 |
R7073:Nbeal2
|
UTSW |
9 |
110,455,177 (GRCm39) |
missense |
probably damaging |
0.99 |
R7099:Nbeal2
|
UTSW |
9 |
110,474,506 (GRCm39) |
splice site |
probably null |
|
R7354:Nbeal2
|
UTSW |
9 |
110,458,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Nbeal2
|
UTSW |
9 |
110,459,257 (GRCm39) |
critical splice donor site |
probably null |
|
R7397:Nbeal2
|
UTSW |
9 |
110,457,100 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7552:Nbeal2
|
UTSW |
9 |
110,482,985 (GRCm39) |
missense |
probably benign |
0.16 |
R7619:Nbeal2
|
UTSW |
9 |
110,454,886 (GRCm39) |
missense |
probably benign |
0.19 |
R7821:Nbeal2
|
UTSW |
9 |
110,459,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7902:Nbeal2
|
UTSW |
9 |
110,466,615 (GRCm39) |
missense |
probably benign |
|
R7923:Nbeal2
|
UTSW |
9 |
110,460,514 (GRCm39) |
nonsense |
probably null |
|
R8018:Nbeal2
|
UTSW |
9 |
110,458,225 (GRCm39) |
unclassified |
probably benign |
|
R8190:Nbeal2
|
UTSW |
9 |
110,455,158 (GRCm39) |
missense |
probably benign |
0.04 |
R8297:Nbeal2
|
UTSW |
9 |
110,464,409 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8404:Nbeal2
|
UTSW |
9 |
110,463,457 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8502:Nbeal2
|
UTSW |
9 |
110,463,457 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8737:Nbeal2
|
UTSW |
9 |
110,456,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Nbeal2
|
UTSW |
9 |
110,459,873 (GRCm39) |
missense |
probably benign |
0.04 |
R8807:Nbeal2
|
UTSW |
9 |
110,458,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8877:Nbeal2
|
UTSW |
9 |
110,459,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R9057:Nbeal2
|
UTSW |
9 |
110,456,218 (GRCm39) |
missense |
probably benign |
|
R9267:Nbeal2
|
UTSW |
9 |
110,462,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R9313:Nbeal2
|
UTSW |
9 |
110,463,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R9352:Nbeal2
|
UTSW |
9 |
110,456,916 (GRCm39) |
missense |
probably benign |
0.03 |
R9482:Nbeal2
|
UTSW |
9 |
110,463,066 (GRCm39) |
missense |
probably benign |
0.25 |
R9533:Nbeal2
|
UTSW |
9 |
110,473,729 (GRCm39) |
missense |
probably benign |
0.01 |
R9566:Nbeal2
|
UTSW |
9 |
110,457,989 (GRCm39) |
missense |
probably benign |
0.00 |
R9769:Nbeal2
|
UTSW |
9 |
110,455,347 (GRCm39) |
missense |
probably benign |
0.01 |
V7583:Nbeal2
|
UTSW |
9 |
110,467,005 (GRCm39) |
missense |
possibly damaging |
0.65 |
X0017:Nbeal2
|
UTSW |
9 |
110,473,346 (GRCm39) |
missense |
probably benign |
0.02 |
X0065:Nbeal2
|
UTSW |
9 |
110,473,481 (GRCm39) |
splice site |
probably benign |
|
Z1088:Nbeal2
|
UTSW |
9 |
110,461,440 (GRCm39) |
missense |
possibly damaging |
0.51 |
Z1176:Nbeal2
|
UTSW |
9 |
110,467,903 (GRCm39) |
missense |
probably benign |
|
Z1176:Nbeal2
|
UTSW |
9 |
110,454,884 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Nbeal2
|
UTSW |
9 |
110,458,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGCTTGTCGATGAAGTGG -3'
(R):5'- TTGGAAGACCCACAGGCAAG -3'
Sequencing Primer
(F):5'- TCGATGAAGTGGCGCCATTC -3'
(R):5'- AGCAATTGGTACCATCCTCATTG -3'
|
Posted On |
2015-10-21 |