Incidental Mutation 'R1818:Ahi1'
| ID |
204623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahi1
|
| Ensembl Gene |
ENSMUSG00000019986 |
| Gene Name |
Abelson helper integration site 1 |
| Synonyms |
Jouberin, Ahi-1, D10Bwg0629e, 1700015F03Rik |
| MMRRC Submission |
039846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
R1818 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20864461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 731
(Y731C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000213104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105525
AA Change: Y731C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: Y731C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
WD40
|
448 |
490 |
4.3e-1 |
SMART |
|
WD40
|
493 |
532 |
9.3e-9 |
SMART |
|
WD40
|
537 |
576 |
2.48e-4 |
SMART |
|
WD40
|
583 |
622 |
6.09e-4 |
SMART |
|
WD40
|
641 |
678 |
1.9e2 |
SMART |
|
WD40
|
684 |
721 |
3.98e0 |
SMART |
|
WD40
|
724 |
769 |
9.51e1 |
SMART |
|
SH3
|
905 |
961 |
2.15e-21 |
SMART |
|
low complexity region
|
975 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213104
AA Change: Y731C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.5%
- 20x: 90.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,857 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
A |
12: 113,454,876 (GRCm39) |
N564K |
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,331,725 (GRCm39) |
Y190H |
probably benign |
Het |
| Ankmy1 |
T |
A |
1: 92,814,553 (GRCm39) |
D318V |
probably benign |
Het |
| Ankrd33b |
G |
A |
15: 31,367,267 (GRCm39) |
A91V |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,608,212 (GRCm39) |
N561S |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,056,834 (GRCm39) |
N1739S |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,064 (GRCm39) |
T236A |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,956,844 (GRCm39) |
A3593T |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,210,111 (GRCm39) |
F778L |
possibly damaging |
Het |
| Capn2 |
T |
A |
1: 182,300,162 (GRCm39) |
K609N |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Card11 |
A |
T |
5: 140,871,315 (GRCm39) |
D729E |
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,529 (GRCm39) |
Y30C |
probably damaging |
Het |
| Cd209a |
G |
A |
8: 3,795,576 (GRCm39) |
T106I |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,242,805 (GRCm39) |
L283P |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,228 (GRCm39) |
T77A |
probably damaging |
Het |
| Clec4e |
T |
A |
6: 123,262,452 (GRCm39) |
D155V |
possibly damaging |
Het |
| Col25a1 |
G |
A |
3: 130,379,386 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
A |
T |
4: 96,185,976 (GRCm39) |
V403D |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,673 (GRCm39) |
R296C |
possibly damaging |
Het |
| Ddx59 |
A |
G |
1: 136,360,245 (GRCm39) |
I420V |
probably damaging |
Het |
| Denr |
T |
A |
5: 124,055,283 (GRCm39) |
D49E |
probably benign |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,568 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
G |
T |
7: 4,526,569 (GRCm39) |
L503M |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,598,307 (GRCm39) |
D1409E |
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,929,854 (GRCm39) |
V56A |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,333 (GRCm39) |
L652Q |
probably benign |
Het |
| Ehd4 |
C |
T |
2: 119,932,885 (GRCm39) |
W180* |
probably null |
Het |
| Ephb2 |
A |
G |
4: 136,382,647 (GRCm39) |
S984P |
probably benign |
Het |
| Eva1a |
T |
C |
6: 82,048,125 (GRCm39) |
M1T |
probably null |
Het |
| Fam90a1a |
C |
G |
8: 22,453,787 (GRCm39) |
P381A |
possibly damaging |
Het |
| Fam90a1a |
C |
A |
8: 22,453,788 (GRCm39) |
P381Q |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,457,447 (GRCm39) |
Y2382H |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,072,711 (GRCm39) |
L612Q |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,806 (GRCm39) |
N419K |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,712,951 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
T |
A |
1: 166,465,788 (GRCm39) |
H267L |
probably damaging |
Het |
| Golga4 |
T |
G |
9: 118,402,055 (GRCm39) |
V91G |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,018 (GRCm39) |
|
probably null |
Het |
| Ice2 |
A |
G |
9: 69,339,383 (GRCm39) |
S967G |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,570,687 (GRCm39) |
I210V |
probably benign |
Het |
| Impdh2 |
T |
G |
9: 108,440,411 (GRCm39) |
|
probably null |
Het |
| Inmt |
C |
A |
6: 55,150,404 (GRCm39) |
V78F |
possibly damaging |
Het |
| Inpp5e |
T |
C |
2: 26,287,886 (GRCm39) |
S637G |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,233,283 (GRCm39) |
H748R |
possibly damaging |
Het |
| Kif28 |
T |
C |
1: 179,533,319 (GRCm39) |
K541E |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,550,281 (GRCm39) |
V480A |
probably damaging |
Het |
| Lrrc74a |
T |
C |
12: 86,784,484 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ly75 |
T |
G |
2: 60,142,121 (GRCm39) |
T1330P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mgat1 |
T |
C |
11: 49,152,111 (GRCm39) |
I198T |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,652,398 (GRCm39) |
Y367C |
probably damaging |
Het |
| Mtfr1 |
A |
G |
3: 19,269,837 (GRCm39) |
T162A |
probably damaging |
Het |
| Myrip |
C |
T |
9: 120,217,228 (GRCm39) |
S49L |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,835,113 (GRCm39) |
N1397K |
possibly damaging |
Het |
| Or5h26 |
T |
C |
16: 58,988,243 (GRCm39) |
K88E |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,558 (GRCm39) |
V49A |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,937,803 (GRCm39) |
S234P |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,902 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pabpc2 |
G |
T |
18: 39,907,163 (GRCm39) |
V143L |
probably damaging |
Het |
| Pals2 |
T |
G |
6: 50,140,411 (GRCm39) |
F144V |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Patj |
G |
A |
4: 98,511,885 (GRCm39) |
V144M |
possibly damaging |
Het |
| Pde1c |
T |
A |
6: 56,103,877 (GRCm39) |
K651* |
probably null |
Het |
| Pde4c |
A |
G |
8: 71,179,638 (GRCm39) |
H63R |
probably benign |
Het |
| Pdha2 |
T |
A |
3: 140,916,960 (GRCm39) |
K183* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,038 (GRCm39) |
C1504S |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,625,574 (GRCm39) |
|
probably null |
Het |
| Poteg |
G |
A |
8: 27,940,195 (GRCm39) |
W121* |
probably null |
Het |
| Prf1 |
C |
A |
10: 61,138,762 (GRCm39) |
T240N |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,067,068 (GRCm39) |
Y1883H |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,943,323 (GRCm39) |
T322A |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,704,420 (GRCm39) |
I281M |
probably benign |
Het |
| Rufy1 |
T |
C |
11: 50,305,399 (GRCm39) |
I305V |
probably benign |
Het |
| Shisa9 |
A |
C |
16: 12,085,426 (GRCm39) |
Q329P |
probably damaging |
Het |
| Siglech |
G |
A |
7: 55,418,332 (GRCm39) |
R100Q |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,144,169 (GRCm39) |
Y303F |
probably benign |
Het |
| Snx6 |
C |
T |
12: 54,830,259 (GRCm39) |
V67I |
possibly damaging |
Het |
| Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,892,888 (GRCm39) |
Y310C |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,557,643 (GRCm39) |
L575Q |
probably damaging |
Het |
| Usp16 |
C |
T |
16: 87,276,020 (GRCm39) |
R452* |
probably null |
Het |
| Utrn |
A |
G |
10: 12,585,708 (GRCm39) |
|
probably null |
Het |
| Vps13b |
G |
A |
15: 35,877,723 (GRCm39) |
G2899E |
probably benign |
Het |
| Wipi2 |
T |
A |
5: 142,643,963 (GRCm39) |
L115Q |
probably damaging |
Het |
| Zbtb7c |
A |
C |
18: 76,270,596 (GRCm39) |
E228A |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,353,487 (GRCm39) |
T101A |
probably benign |
Het |
| Zfp593 |
A |
T |
4: 133,972,394 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp948 |
G |
A |
17: 21,805,069 (GRCm39) |
V20M |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,945,293 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ahi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ahi1
|
APN |
10 |
20,848,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00914:Ahi1
|
APN |
10 |
20,860,198 (GRCm39) |
splice site |
probably null |
|
|
IGL01075:Ahi1
|
APN |
10 |
20,862,924 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01094:Ahi1
|
APN |
10 |
20,847,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01128:Ahi1
|
APN |
10 |
20,950,332 (GRCm39) |
missense |
probably benign |
|
|
IGL01527:Ahi1
|
APN |
10 |
20,835,984 (GRCm39) |
splice site |
probably benign |
|
|
IGL01821:Ahi1
|
APN |
10 |
20,917,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02159:Ahi1
|
APN |
10 |
20,934,076 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02176:Ahi1
|
APN |
10 |
20,846,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02200:Ahi1
|
APN |
10 |
20,857,213 (GRCm39) |
splice site |
probably benign |
|
|
IGL02232:Ahi1
|
APN |
10 |
20,857,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Ahi1
|
APN |
10 |
20,846,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02323:Ahi1
|
APN |
10 |
20,847,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Ahi1
|
APN |
10 |
20,931,012 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02958:Ahi1
|
APN |
10 |
20,839,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Ahi1
|
APN |
10 |
20,876,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03109:Ahi1
|
APN |
10 |
20,846,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03192:Ahi1
|
APN |
10 |
20,841,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03377:Ahi1
|
APN |
10 |
20,893,903 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
arisen
|
UTSW |
10 |
20,883,667 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
urspringt
|
UTSW |
10 |
20,860,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4717OSA:Ahi1
|
UTSW |
10 |
20,848,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4748:Ahi1
|
UTSW |
10 |
20,848,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Ahi1
|
UTSW |
10 |
20,847,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Ahi1
|
UTSW |
10 |
20,876,618 (GRCm39) |
splice site |
probably benign |
|
|
R0627:Ahi1
|
UTSW |
10 |
20,841,421 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0652:Ahi1
|
UTSW |
10 |
20,855,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Ahi1
|
UTSW |
10 |
20,846,742 (GRCm39) |
splice site |
probably benign |
|
|
R1209:Ahi1
|
UTSW |
10 |
20,839,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1364:Ahi1
|
UTSW |
10 |
20,848,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1510:Ahi1
|
UTSW |
10 |
20,835,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1634:Ahi1
|
UTSW |
10 |
20,841,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Ahi1
|
UTSW |
10 |
20,839,014 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2069:Ahi1
|
UTSW |
10 |
20,835,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2148:Ahi1
|
UTSW |
10 |
20,846,875 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2566:Ahi1
|
UTSW |
10 |
20,846,810 (GRCm39) |
nonsense |
probably null |
|
|
R2850:Ahi1
|
UTSW |
10 |
20,876,492 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2862:Ahi1
|
UTSW |
10 |
20,857,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3969:Ahi1
|
UTSW |
10 |
20,835,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Ahi1
|
UTSW |
10 |
20,847,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Ahi1
|
UTSW |
10 |
20,841,444 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4755:Ahi1
|
UTSW |
10 |
20,930,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4916:Ahi1
|
UTSW |
10 |
20,860,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5216:Ahi1
|
UTSW |
10 |
20,835,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5223:Ahi1
|
UTSW |
10 |
20,846,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5224:Ahi1
|
UTSW |
10 |
20,862,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ahi1
|
UTSW |
10 |
20,862,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Ahi1
|
UTSW |
10 |
20,930,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5704:Ahi1
|
UTSW |
10 |
20,950,326 (GRCm39) |
missense |
probably benign |
|
|
R5769:Ahi1
|
UTSW |
10 |
20,835,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5899:Ahi1
|
UTSW |
10 |
20,876,465 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5936:Ahi1
|
UTSW |
10 |
20,841,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Ahi1
|
UTSW |
10 |
20,860,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Ahi1
|
UTSW |
10 |
20,835,825 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6122:Ahi1
|
UTSW |
10 |
20,934,064 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6135:Ahi1
|
UTSW |
10 |
20,845,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6240:Ahi1
|
UTSW |
10 |
20,852,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6387:Ahi1
|
UTSW |
10 |
20,844,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Ahi1
|
UTSW |
10 |
20,855,491 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6406:Ahi1
|
UTSW |
10 |
20,852,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Ahi1
|
UTSW |
10 |
20,835,981 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6558:Ahi1
|
UTSW |
10 |
20,839,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Ahi1
|
UTSW |
10 |
20,841,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Ahi1
|
UTSW |
10 |
20,893,812 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6927:Ahi1
|
UTSW |
10 |
20,930,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Ahi1
|
UTSW |
10 |
20,839,590 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6967:Ahi1
|
UTSW |
10 |
20,864,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7168:Ahi1
|
UTSW |
10 |
20,893,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7169:Ahi1
|
UTSW |
10 |
20,930,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Ahi1
|
UTSW |
10 |
20,862,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7351:Ahi1
|
UTSW |
10 |
20,841,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Ahi1
|
UTSW |
10 |
20,839,649 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7680:Ahi1
|
UTSW |
10 |
20,883,667 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7878:Ahi1
|
UTSW |
10 |
20,857,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7999:Ahi1
|
UTSW |
10 |
20,841,580 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8219:Ahi1
|
UTSW |
10 |
20,950,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8248:Ahi1
|
UTSW |
10 |
20,847,991 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8560:Ahi1
|
UTSW |
10 |
20,835,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8926:Ahi1
|
UTSW |
10 |
20,930,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Ahi1
|
UTSW |
10 |
20,839,761 (GRCm39) |
missense |
probably benign |
|
|
R8987:Ahi1
|
UTSW |
10 |
20,839,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Ahi1
|
UTSW |
10 |
20,883,658 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9145:Ahi1
|
UTSW |
10 |
20,876,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9365:Ahi1
|
UTSW |
10 |
20,848,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9567:Ahi1
|
UTSW |
10 |
20,857,300 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0024:Ahi1
|
UTSW |
10 |
20,876,491 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Ahi1
|
UTSW |
10 |
20,916,906 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAAGAGAGTGAGCTAAACCTAC -3'
(R):5'- TAGTGCTCCTGATTCCTGGC -3'
Sequencing Primer
(F):5'- GTGCAGATAAGTATCCACCACAGTG -3'
(R):5'- CTGATTCCTGGCCCATTATAAATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation