Incidental Mutation 'R0310:Nbeal2'
ID |
25188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nbeal2
|
Ensembl Gene |
ENSMUSG00000056724 |
Gene Name |
neurobeachin-like 2 |
Synonyms |
1110014F23Rik |
MMRRC Submission |
038520-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.256)
|
Stock # |
R0310 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110453857-110483229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110467231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 653
(V653L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133191]
[ENSMUST00000149089]
[ENSMUST00000167320]
[ENSMUST00000196488]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000123996
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130024
AA Change: V125L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118061 Gene: ENSMUSG00000056724 AA Change: V125L
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 damaging
Transcript: ENSMUST00000133191
AA Change: V653L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121373 Gene: ENSMUSG00000056724 AA Change: V653L
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: ENSMUST00000149089
|
SMART Domains |
Protein: ENSMUSP00000119254 Gene: ENSMUSG00000056724
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
77 |
N/A |
INTRINSIC |
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
low complexity region
|
480 |
488 |
N/A |
INTRINSIC |
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153960
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167320
AA Change: V653L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128586 Gene: ENSMUSG00000056724 AA Change: V653L
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 damaging
Transcript: ENSMUST00000196488
AA Change: V626L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143265 Gene: ENSMUSG00000056724 AA Change: V626L
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: ENSMUST00000184024
|
Meta Mutation Damage Score |
0.2425 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 93.3%
- 20x: 82.5%
|
Validation Efficiency |
99% (113/114) |
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: 109 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
C |
9: 53,336,971 (GRCm39) |
T92P |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,243,810 (GRCm39) |
V1891A |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,228,791 (GRCm39) |
I346N |
probably damaging |
Het |
Afdn |
G |
T |
17: 14,105,770 (GRCm39) |
|
probably null |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,264,678 (GRCm39) |
D507G |
probably damaging |
Het |
Akap8 |
A |
T |
17: 32,535,234 (GRCm39) |
M260K |
possibly damaging |
Het |
Akr1b8 |
T |
C |
6: 34,342,194 (GRCm39) |
V265A |
probably benign |
Het |
Alpk3 |
C |
G |
7: 80,728,358 (GRCm39) |
P496R |
possibly damaging |
Het |
Ankrd13b |
A |
G |
11: 77,363,571 (GRCm39) |
V249A |
possibly damaging |
Het |
Arid4a |
T |
C |
12: 71,122,604 (GRCm39) |
V995A |
probably benign |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atad2 |
G |
A |
15: 57,977,653 (GRCm39) |
A499V |
probably damaging |
Het |
Barhl2 |
G |
T |
5: 106,605,253 (GRCm39) |
A152E |
possibly damaging |
Het |
Bbs12 |
T |
A |
3: 37,375,194 (GRCm39) |
D547E |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,981,934 (GRCm39) |
M1655V |
probably damaging |
Het |
Ccdc50 |
T |
A |
16: 27,225,408 (GRCm39) |
H40Q |
probably damaging |
Het |
Ccr9 |
A |
T |
9: 123,603,617 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
A |
G |
8: 123,592,175 (GRCm39) |
D654G |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,233,553 (GRCm39) |
D758G |
probably damaging |
Het |
Cgn |
C |
T |
3: 94,672,960 (GRCm39) |
R906K |
possibly damaging |
Het |
Chil3 |
T |
A |
3: 106,067,839 (GRCm39) |
M109L |
possibly damaging |
Het |
Cntnap4 |
A |
T |
8: 113,569,148 (GRCm39) |
|
probably null |
Het |
Cyp4f18 |
C |
T |
8: 72,754,856 (GRCm39) |
|
probably benign |
Het |
Daam2 |
A |
G |
17: 49,770,952 (GRCm39) |
|
probably null |
Het |
Ddost |
T |
A |
4: 138,037,922 (GRCm39) |
H220Q |
probably benign |
Het |
Dennd2a |
C |
T |
6: 39,441,135 (GRCm39) |
|
probably benign |
Het |
Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
Dnaaf4 |
A |
T |
9: 72,879,618 (GRCm39) |
D386V |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,299,256 (GRCm39) |
R1539S |
probably benign |
Het |
Dusp22 |
T |
C |
13: 30,889,641 (GRCm39) |
I74T |
probably damaging |
Het |
Epc1 |
A |
G |
18: 6,440,202 (GRCm39) |
|
probably benign |
Het |
Epha7 |
A |
G |
4: 28,961,301 (GRCm39) |
I845V |
probably benign |
Het |
Fanci |
C |
T |
7: 79,057,165 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,205,564 (GRCm39) |
E1104V |
probably damaging |
Het |
Fbxo8 |
T |
A |
8: 57,043,132 (GRCm39) |
F205L |
probably damaging |
Het |
Fcgbpl1 |
G |
T |
7: 27,841,699 (GRCm39) |
V545L |
probably benign |
Het |
Fetub |
T |
C |
16: 22,748,506 (GRCm39) |
|
probably benign |
Het |
Frs3 |
T |
C |
17: 48,014,747 (GRCm39) |
V480A |
probably benign |
Het |
Gne |
C |
A |
4: 44,060,157 (GRCm39) |
E79* |
probably null |
Het |
Hrc |
T |
A |
7: 44,985,921 (GRCm39) |
H357Q |
probably benign |
Het |
Idh1 |
T |
C |
1: 65,201,079 (GRCm39) |
M291V |
probably damaging |
Het |
Il22b |
T |
A |
10: 118,129,090 (GRCm39) |
H133L |
probably benign |
Het |
Ino80b |
T |
C |
6: 83,101,072 (GRCm39) |
E165G |
probably damaging |
Het |
Inppl1 |
A |
T |
7: 101,477,706 (GRCm39) |
|
probably benign |
Het |
Ints15 |
G |
T |
5: 143,293,643 (GRCm39) |
T278K |
probably benign |
Het |
Ip6k2 |
T |
C |
9: 108,676,432 (GRCm39) |
|
probably benign |
Het |
Itga11 |
A |
T |
9: 62,667,628 (GRCm39) |
I654F |
probably damaging |
Het |
Jag2 |
G |
T |
12: 112,876,997 (GRCm39) |
|
probably benign |
Het |
Katna1 |
G |
T |
10: 7,619,513 (GRCm39) |
|
probably benign |
Het |
Kcnh4 |
G |
T |
11: 100,636,995 (GRCm39) |
S707Y |
probably benign |
Het |
Kcnn2 |
T |
G |
18: 45,693,585 (GRCm39) |
L387R |
probably damaging |
Het |
Khnyn |
A |
G |
14: 56,125,425 (GRCm39) |
T503A |
probably damaging |
Het |
Lama5 |
G |
T |
2: 179,823,359 (GRCm39) |
|
probably benign |
Het |
Lmbr1l |
A |
T |
15: 98,806,654 (GRCm39) |
|
probably benign |
Het |
Mast4 |
A |
T |
13: 102,890,669 (GRCm39) |
S870T |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,058,400 (GRCm39) |
Y266H |
probably benign |
Het |
Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
Mgam |
T |
C |
6: 40,737,969 (GRCm39) |
|
probably benign |
Het |
Mmp8 |
A |
G |
9: 7,561,455 (GRCm39) |
Q153R |
probably benign |
Het |
Mpeg1 |
C |
A |
19: 12,439,055 (GRCm39) |
T171N |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,043,829 (GRCm39) |
S806P |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,285,350 (GRCm39) |
E1226V |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,444,721 (GRCm39) |
F246L |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,602,989 (GRCm39) |
I1187V |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,344,529 (GRCm39) |
|
probably benign |
Het |
Ndufa9 |
G |
T |
6: 126,804,495 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
G |
T |
7: 23,129,582 (GRCm39) |
C883F |
probably damaging |
Het |
Nr0b2 |
C |
A |
4: 133,283,303 (GRCm39) |
|
probably null |
Het |
Or1m1 |
T |
A |
9: 18,666,629 (GRCm39) |
M101L |
possibly damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,600 (GRCm39) |
V201E |
probably damaging |
Het |
Or6c69c |
G |
A |
10: 129,910,692 (GRCm39) |
V138I |
probably benign |
Het |
Or8b101 |
T |
A |
9: 38,020,782 (GRCm39) |
S267T |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,620,046 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,134 (GRCm39) |
|
probably benign |
Het |
Ppm1l |
A |
G |
3: 69,456,794 (GRCm39) |
K237R |
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,184,603 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,204,958 (GRCm39) |
D734E |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,065,528 (GRCm39) |
C1283R |
probably damaging |
Het |
Rbm12 |
A |
G |
2: 155,937,644 (GRCm39) |
|
probably benign |
Het |
Rttn |
A |
T |
18: 89,027,584 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
G |
T |
5: 113,411,571 (GRCm39) |
H431Q |
probably benign |
Het |
Siah3 |
A |
G |
14: 75,763,367 (GRCm39) |
N206S |
possibly damaging |
Het |
Slc22a15 |
G |
T |
3: 101,767,827 (GRCm39) |
D521E |
probably benign |
Het |
Sprr2k |
A |
T |
3: 92,340,770 (GRCm39) |
|
probably benign |
Het |
Stab2 |
G |
A |
10: 86,803,477 (GRCm39) |
|
probably benign |
Het |
Sval3 |
T |
A |
6: 41,945,120 (GRCm39) |
L16Q |
probably damaging |
Het |
Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
Tk1 |
T |
C |
11: 117,707,921 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
C |
A |
11: 105,145,799 (GRCm39) |
A335E |
probably benign |
Het |
Tmtc1 |
T |
C |
6: 148,151,079 (GRCm39) |
K659E |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,499,408 (GRCm39) |
P907L |
probably benign |
Het |
Trim14 |
C |
A |
4: 46,522,043 (GRCm39) |
K211N |
probably damaging |
Het |
Trim15 |
A |
C |
17: 37,177,878 (GRCm39) |
L39R |
probably damaging |
Het |
Tspan15 |
T |
A |
10: 62,023,872 (GRCm39) |
T269S |
probably benign |
Het |
Ttc7 |
T |
A |
17: 87,669,292 (GRCm39) |
D646E |
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,038,382 (GRCm39) |
Q410L |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,027,666 (GRCm39) |
Q419R |
probably damaging |
Het |
Vcam1 |
A |
T |
3: 115,908,065 (GRCm39) |
Y666N |
possibly damaging |
Het |
Vmn1r10 |
A |
T |
6: 57,090,486 (GRCm39) |
Y26F |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,927,775 (GRCm39) |
N295S |
probably benign |
Het |
Vmn2r114 |
A |
T |
17: 23,509,917 (GRCm39) |
H854Q |
probably benign |
Het |
Vmn2r2 |
A |
T |
3: 64,042,039 (GRCm39) |
D225E |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,296,855 (GRCm39) |
Y643* |
probably null |
Het |
Vmn2r52 |
T |
A |
7: 9,893,393 (GRCm39) |
Y582F |
probably damaging |
Het |
Vmn2r60 |
G |
T |
7: 41,844,564 (GRCm39) |
L642F |
possibly damaging |
Het |
Zbtb20 |
T |
C |
16: 43,430,109 (GRCm39) |
S207P |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
Zkscan7 |
G |
T |
9: 122,717,958 (GRCm39) |
E118* |
probably null |
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 |
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 |
R4707:Nbeal2
|
UTSW |
9 |
110,461,123 (GRCm39) |
missense |
probably benign |
0.10 |
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'- AAACCTGCCTGGCATACCTCACTG -3'
(R):5'- TGCCTGGCTGTGTCTACAATCG -3'
Sequencing Primer
(F):5'- CATTGACCAGGTTCTGACTGAAG -3'
(R):5'- GCTGTGTCTACAATCGTCAGAG -3'
|
Posted On |
2013-04-16 |