Incidental Mutation 'R1856:Nbas'
| ID |
206154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbas
|
| Ensembl Gene |
ENSMUSG00000020576 |
| Gene Name |
neuroblastoma amplified sequence |
| Synonyms |
4933425L03Rik |
| MMRRC Submission |
039880-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
13319134-13633812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 13524230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1695
(S1695R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042953]
|
| AlphaFold |
E9Q411 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042953
AA Change: S1695R
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: S1695R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nbas_N
|
89 |
370 |
4.7e-171 |
PFAM |
|
low complexity region
|
463 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
667 |
N/A |
INTRINSIC |
|
Pfam:Sec39
|
725 |
1375 |
3.8e-34 |
PFAM |
|
low complexity region
|
1392 |
1404 |
N/A |
INTRINSIC |
|
low complexity region
|
1549 |
1566 |
N/A |
INTRINSIC |
|
low complexity region
|
2226 |
2252 |
N/A |
INTRINSIC |
|
low complexity region
|
2275 |
2285 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
All alleles(10) : Targeted, other(2) Gene trapped(8)
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,453 (GRCm39) |
M233L |
probably benign |
Het |
| Abca14 |
T |
G |
7: 119,877,404 (GRCm39) |
F1017L |
probably damaging |
Het |
| Abcb11 |
A |
C |
2: 69,076,267 (GRCm39) |
V1147G |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,617,529 (GRCm39) |
S1128C |
probably damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,923 (GRCm39) |
C432Y |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,808,397 (GRCm39) |
V318M |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,979,412 (GRCm39) |
S232Y |
possibly damaging |
Het |
| Amt |
A |
C |
9: 108,174,361 (GRCm39) |
H42P |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,501,708 (GRCm39) |
L778Q |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,777,580 (GRCm39) |
A1588T |
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,627 (GRCm39) |
L881Q |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,649,706 (GRCm39) |
S607P |
probably damaging |
Het |
| Arg2 |
G |
T |
12: 79,194,436 (GRCm39) |
V87L |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,731,323 (GRCm39) |
P869L |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,408,769 (GRCm39) |
D310E |
probably damaging |
Het |
| Cd6 |
A |
T |
19: 10,775,966 (GRCm39) |
D164E |
probably damaging |
Het |
| Cdan1 |
C |
A |
2: 120,555,417 (GRCm39) |
V775L |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,687,056 (GRCm39) |
|
probably null |
Het |
| Cep41 |
A |
G |
6: 30,661,005 (GRCm39) |
S61P |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,379,445 (GRCm39) |
D764E |
probably damaging |
Het |
| Cog2 |
G |
A |
8: 125,278,142 (GRCm39) |
G703S |
possibly damaging |
Het |
| Cramp1 |
T |
C |
17: 25,187,952 (GRCm39) |
D1214G |
probably damaging |
Het |
| Cst7 |
G |
T |
2: 150,419,628 (GRCm39) |
C98F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,925,484 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Cyb5r4 |
G |
A |
9: 86,904,262 (GRCm39) |
A11T |
possibly damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,003,120 (GRCm39) |
D306G |
probably damaging |
Het |
| Defb38 |
T |
A |
8: 19,073,592 (GRCm39) |
K27I |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,089 (GRCm39) |
E257G |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,456,185 (GRCm39) |
S58P |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,285 (GRCm39) |
D140E |
possibly damaging |
Het |
| Dop1a |
T |
C |
9: 86,374,057 (GRCm39) |
V172A |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,137,011 (GRCm39) |
A171T |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,986 (GRCm39) |
D284G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,776,843 (GRCm39) |
D1377G |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,183 (GRCm39) |
E2687G |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,352 (GRCm39) |
L154R |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,540 (GRCm39) |
N454S |
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,192,153 (GRCm39) |
I123L |
probably benign |
Het |
| Gucy1b1 |
A |
T |
3: 81,965,659 (GRCm39) |
N62K |
probably benign |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,067 (GRCm39) |
N90S |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,791,577 (GRCm39) |
L2556Q |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 106,995,542 (GRCm39) |
M1290L |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,447,284 (GRCm39) |
W337R |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,097 (GRCm39) |
Y291C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,597,415 (GRCm39) |
N1749S |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,238,693 (GRCm39) |
D496G |
possibly damaging |
Het |
| Iqch |
C |
T |
9: 63,441,619 (GRCm39) |
|
probably null |
Het |
| Irf6 |
A |
G |
1: 192,849,843 (GRCm39) |
D255G |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,346,787 (GRCm39) |
G642R |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,934,312 (GRCm39) |
Y236H |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,409,914 (GRCm39) |
K208* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,670,838 (GRCm39) |
L808* |
probably null |
Het |
| Lrp5 |
C |
T |
19: 3,647,346 (GRCm39) |
A1299T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,979 (GRCm39) |
Q214R |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,263,641 (GRCm39) |
E6960V |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,156 (GRCm39) |
E120G |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,720 (GRCm39) |
T393A |
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,146,508 (GRCm39) |
E1494K |
probably damaging |
Het |
| Nlgn1 |
G |
T |
3: 25,494,201 (GRCm39) |
Y249* |
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,586,811 (GRCm39) |
L910P |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,931,122 (GRCm39) |
D5838V |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,655 (GRCm39) |
I183T |
probably benign |
Het |
| Or1j18 |
T |
C |
2: 36,624,357 (GRCm39) |
I8T |
probably benign |
Het |
| Or4c113 |
G |
A |
2: 88,885,203 (GRCm39) |
T189M |
possibly damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,892 (GRCm39) |
I140T |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,690,125 (GRCm39) |
S915Y |
possibly damaging |
Het |
| P2rx7 |
T |
A |
5: 122,819,095 (GRCm39) |
C506S |
probably damaging |
Het |
| P4hb |
T |
C |
11: 120,454,044 (GRCm39) |
E350G |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,817,379 (GRCm39) |
V606E |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,258,980 (GRCm39) |
D1576V |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,828,566 (GRCm39) |
V1402F |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,086,626 (GRCm39) |
T211A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,941 (GRCm39) |
R2065G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,878 (GRCm39) |
V629A |
probably benign |
Het |
| Prkcsh |
G |
A |
9: 21,915,871 (GRCm39) |
V92I |
possibly damaging |
Het |
| Prpf19 |
G |
T |
19: 10,879,780 (GRCm39) |
V320F |
probably damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,239,682 (GRCm39) |
I283F |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,447,915 (GRCm39) |
D480E |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,821,518 (GRCm39) |
C23Y |
probably damaging |
Het |
| Rnf186 |
C |
T |
4: 138,694,673 (GRCm39) |
T71I |
probably benign |
Het |
| Scyl3 |
A |
G |
1: 163,761,265 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
G |
T |
2: 112,166,272 (GRCm39) |
|
probably null |
Het |
| Slc1a2 |
C |
A |
2: 102,607,912 (GRCm39) |
S520Y |
probably damaging |
Het |
| Slc35e2 |
T |
A |
4: 155,696,186 (GRCm39) |
L191Q |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx33 |
T |
C |
9: 56,833,295 (GRCm39) |
H258R |
possibly damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,899,498 (GRCm39) |
H622L |
probably benign |
Het |
| Thbs3 |
A |
T |
3: 89,133,713 (GRCm39) |
E888D |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,124 (GRCm39) |
L159P |
probably benign |
Het |
| Tmem70 |
A |
T |
1: 16,747,497 (GRCm39) |
T205S |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,032,285 (GRCm39) |
H1001L |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,950,064 (GRCm39) |
T292A |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,849,592 (GRCm39) |
R92* |
probably null |
Het |
| Trpa1 |
G |
A |
1: 14,969,612 (GRCm39) |
Q386* |
probably null |
Het |
| Trpc4 |
T |
A |
3: 54,187,410 (GRCm39) |
V454D |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,051 (GRCm39) |
D22E |
probably benign |
Het |
| Ttk |
A |
T |
9: 83,751,316 (GRCm39) |
I798F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,977 (GRCm39) |
I17312V |
probably damaging |
Het |
| Txndc15 |
A |
T |
13: 55,865,875 (GRCm39) |
E113V |
possibly damaging |
Het |
| Ube2d4 |
T |
A |
15: 58,718,448 (GRCm39) |
|
noncoding transcript |
Het |
| Urb1 |
T |
A |
16: 90,558,583 (GRCm39) |
T1723S |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,265 (GRCm39) |
V323D |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,238 (GRCm39) |
M232T |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,202,813 (GRCm39) |
S577P |
probably damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,128,949 (GRCm39) |
W397* |
probably null |
Het |
| Ypel1 |
T |
A |
16: 16,899,511 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
A |
2: 180,552,763 (GRCm39) |
D484V |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,154 (GRCm39) |
|
probably null |
Het |
| Zfp472 |
A |
T |
17: 33,184,887 (GRCm39) |
H2L |
possibly damaging |
Het |
| Zfp953 |
A |
T |
13: 67,493,422 (GRCm39) |
M74K |
probably benign |
Het |
| Zmat4 |
C |
T |
8: 24,419,151 (GRCm39) |
T61M |
probably benign |
Het |
|
| Other mutations in Nbas |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Nbas
|
APN |
12 |
13,503,076 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00712:Nbas
|
APN |
12 |
13,412,626 (GRCm39) |
splice site |
probably benign |
|
|
IGL00808:Nbas
|
APN |
12 |
13,616,121 (GRCm39) |
splice site |
probably benign |
|
|
IGL00915:Nbas
|
APN |
12 |
13,424,753 (GRCm39) |
nonsense |
probably null |
|
|
IGL00923:Nbas
|
APN |
12 |
13,386,285 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01152:Nbas
|
APN |
12 |
13,410,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Nbas
|
APN |
12 |
13,533,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01672:Nbas
|
APN |
12 |
13,429,650 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01799:Nbas
|
APN |
12 |
13,374,401 (GRCm39) |
splice site |
probably benign |
|
|
IGL01812:Nbas
|
APN |
12 |
13,503,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Nbas
|
APN |
12 |
13,339,880 (GRCm39) |
splice site |
probably benign |
|
|
IGL02093:Nbas
|
APN |
12 |
13,610,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02115:Nbas
|
APN |
12 |
13,367,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL02175:Nbas
|
APN |
12 |
13,616,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02268:Nbas
|
APN |
12 |
13,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02483:Nbas
|
APN |
12 |
13,374,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Nbas
|
APN |
12 |
13,322,704 (GRCm39) |
splice site |
probably benign |
|
|
IGL02557:Nbas
|
APN |
12 |
13,411,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02815:Nbas
|
APN |
12 |
13,360,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Nbas
|
APN |
12 |
13,412,542 (GRCm39) |
missense |
probably benign |
|
|
IGL03131:Nbas
|
APN |
12 |
13,329,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03214:Nbas
|
APN |
12 |
13,381,111 (GRCm39) |
splice site |
probably benign |
|
|
IGL03308:Nbas
|
APN |
12 |
13,374,349 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03368:Nbas
|
APN |
12 |
13,378,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03372:Nbas
|
APN |
12 |
13,584,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Nbas
|
APN |
12 |
13,533,750 (GRCm39) |
missense |
probably benign |
0.28 |
|
medvedev
|
UTSW |
12 |
13,584,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
oligarchs
|
UTSW |
12 |
13,570,751 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
putin
|
UTSW |
12 |
13,371,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Nbas
|
UTSW |
12 |
13,338,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Nbas
|
UTSW |
12 |
13,440,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0076:Nbas
|
UTSW |
12 |
13,374,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Nbas
|
UTSW |
12 |
13,323,877 (GRCm39) |
splice site |
probably benign |
|
|
R0371:Nbas
|
UTSW |
12 |
13,381,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0449:Nbas
|
UTSW |
12 |
13,569,109 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0791:Nbas
|
UTSW |
12 |
13,532,634 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0931:Nbas
|
UTSW |
12 |
13,381,115 (GRCm39) |
splice site |
probably benign |
|
|
R1236:Nbas
|
UTSW |
12 |
13,319,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Nbas
|
UTSW |
12 |
13,532,379 (GRCm39) |
splice site |
probably benign |
|
|
R1567:Nbas
|
UTSW |
12 |
13,335,279 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1587:Nbas
|
UTSW |
12 |
13,608,686 (GRCm39) |
missense |
probably benign |
|
|
R1719:Nbas
|
UTSW |
12 |
13,610,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1747:Nbas
|
UTSW |
12 |
13,385,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1777:Nbas
|
UTSW |
12 |
13,563,563 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1848:Nbas
|
UTSW |
12 |
13,463,598 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1891:Nbas
|
UTSW |
12 |
13,440,973 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1911:Nbas
|
UTSW |
12 |
13,616,145 (GRCm39) |
missense |
probably benign |
|
|
R1912:Nbas
|
UTSW |
12 |
13,616,145 (GRCm39) |
missense |
probably benign |
|
|
R2006:Nbas
|
UTSW |
12 |
13,464,742 (GRCm39) |
splice site |
probably null |
|
|
R2054:Nbas
|
UTSW |
12 |
13,524,207 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2065:Nbas
|
UTSW |
12 |
13,616,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Nbas
|
UTSW |
12 |
13,411,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2091:Nbas
|
UTSW |
12 |
13,411,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2091:Nbas
|
UTSW |
12 |
13,411,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2156:Nbas
|
UTSW |
12 |
13,491,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Nbas
|
UTSW |
12 |
13,380,647 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2339:Nbas
|
UTSW |
12 |
13,412,593 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2398:Nbas
|
UTSW |
12 |
13,482,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3806:Nbas
|
UTSW |
12 |
13,532,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Nbas
|
UTSW |
12 |
13,329,415 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4019:Nbas
|
UTSW |
12 |
13,532,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Nbas
|
UTSW |
12 |
13,524,192 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4201:Nbas
|
UTSW |
12 |
13,424,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4231:Nbas
|
UTSW |
12 |
13,443,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4552:Nbas
|
UTSW |
12 |
13,385,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4560:Nbas
|
UTSW |
12 |
13,633,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4728:Nbas
|
UTSW |
12 |
13,338,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4752:Nbas
|
UTSW |
12 |
13,532,538 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4832:Nbas
|
UTSW |
12 |
13,533,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4874:Nbas
|
UTSW |
12 |
13,371,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Nbas
|
UTSW |
12 |
13,458,266 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5020:Nbas
|
UTSW |
12 |
13,424,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5079:Nbas
|
UTSW |
12 |
13,424,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Nbas
|
UTSW |
12 |
13,440,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Nbas
|
UTSW |
12 |
13,491,519 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5299:Nbas
|
UTSW |
12 |
13,491,926 (GRCm39) |
nonsense |
probably null |
|
|
R5351:Nbas
|
UTSW |
12 |
13,610,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Nbas
|
UTSW |
12 |
13,584,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5436:Nbas
|
UTSW |
12 |
13,424,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Nbas
|
UTSW |
12 |
13,633,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5690:Nbas
|
UTSW |
12 |
13,386,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Nbas
|
UTSW |
12 |
13,319,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5959:Nbas
|
UTSW |
12 |
13,338,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5982:Nbas
|
UTSW |
12 |
13,443,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6238:Nbas
|
UTSW |
12 |
13,532,596 (GRCm39) |
missense |
probably benign |
|
|
R6270:Nbas
|
UTSW |
12 |
13,374,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6363:Nbas
|
UTSW |
12 |
13,532,577 (GRCm39) |
missense |
probably benign |
|
|
R6424:Nbas
|
UTSW |
12 |
13,465,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6458:Nbas
|
UTSW |
12 |
13,338,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Nbas
|
UTSW |
12 |
13,455,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:Nbas
|
UTSW |
12 |
13,533,875 (GRCm39) |
nonsense |
probably null |
|
|
R7085:Nbas
|
UTSW |
12 |
13,335,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Nbas
|
UTSW |
12 |
13,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7197:Nbas
|
UTSW |
12 |
13,570,751 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7378:Nbas
|
UTSW |
12 |
13,324,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Nbas
|
UTSW |
12 |
13,443,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Nbas
|
UTSW |
12 |
13,519,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Nbas
|
UTSW |
12 |
13,443,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7481:Nbas
|
UTSW |
12 |
13,406,960 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7535:Nbas
|
UTSW |
12 |
13,329,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7626:Nbas
|
UTSW |
12 |
13,608,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7678:Nbas
|
UTSW |
12 |
13,465,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7912:Nbas
|
UTSW |
12 |
13,455,458 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7964:Nbas
|
UTSW |
12 |
13,406,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8193:Nbas
|
UTSW |
12 |
13,483,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Nbas
|
UTSW |
12 |
13,338,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8405:Nbas
|
UTSW |
12 |
13,329,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8437:Nbas
|
UTSW |
12 |
13,616,251 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8559:Nbas
|
UTSW |
12 |
13,402,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8684:Nbas
|
UTSW |
12 |
13,386,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Nbas
|
UTSW |
12 |
13,402,875 (GRCm39) |
splice site |
probably benign |
|
|
R8921:Nbas
|
UTSW |
12 |
13,463,590 (GRCm39) |
missense |
probably benign |
|
|
R8956:Nbas
|
UTSW |
12 |
13,482,923 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9083:Nbas
|
UTSW |
12 |
13,385,856 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9172:Nbas
|
UTSW |
12 |
13,424,751 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9430:Nbas
|
UTSW |
12 |
13,371,654 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9627:Nbas
|
UTSW |
12 |
13,350,203 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9649:Nbas
|
UTSW |
12 |
13,633,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF013:Nbas
|
UTSW |
12 |
13,329,409 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
T0722:Nbas
|
UTSW |
12 |
13,402,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Nbas
|
UTSW |
12 |
13,533,877 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGAGCTGACCTAGGGAG -3'
(R):5'- AAGTGTCTAACTCAGAGCTCTG -3'
Sequencing Primer
(F):5'- AGGACTGTGCTGCCATCC -3'
(R):5'- GCTCTGACAGAAATAAAACTTACAGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation