Incidental Mutation 'IGL02232:Ahi1'
ID |
285770 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ahi1
|
Ensembl Gene |
ENSMUSG00000019986 |
Gene Name |
Abelson helper integration site 1 |
Synonyms |
Jouberin, Ahi-1, D10Bwg0629e, 1700015F03Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
IGL02232
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 20857274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 623
(T623M)
|
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: T623M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: T623M
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: T623M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810030O07Rik |
A |
G |
X: 12,530,764 (GRCm39) |
V199A |
possibly damaging |
Het |
Aco1 |
T |
C |
4: 40,175,996 (GRCm39) |
M210T |
probably damaging |
Het |
Actr10 |
G |
A |
12: 70,990,289 (GRCm39) |
E114K |
probably benign |
Het |
Adam6b |
T |
C |
12: 113,454,764 (GRCm39) |
M527T |
probably benign |
Het |
Aldh8a1 |
T |
C |
10: 21,271,545 (GRCm39) |
W424R |
probably damaging |
Het |
Apeh |
A |
T |
9: 107,969,071 (GRCm39) |
S299T |
probably benign |
Het |
Bbs5 |
A |
C |
2: 69,485,895 (GRCm39) |
I147L |
probably benign |
Het |
Bmp2k |
T |
G |
5: 97,179,109 (GRCm39) |
|
probably benign |
Het |
C2cd6 |
A |
G |
1: 59,101,651 (GRCm39) |
F336S |
probably damaging |
Het |
Cd274 |
T |
A |
19: 29,359,938 (GRCm39) |
L248M |
probably damaging |
Het |
Chsy3 |
T |
A |
18: 59,542,383 (GRCm39) |
M507K |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,531,984 (GRCm39) |
N572S |
probably damaging |
Het |
Commd9 |
A |
G |
2: 101,731,324 (GRCm39) |
T170A |
probably benign |
Het |
Cpt1c |
G |
A |
7: 44,609,580 (GRCm39) |
S674L |
probably damaging |
Het |
Dhx33 |
C |
A |
11: 70,878,030 (GRCm39) |
R671L |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,299,386 (GRCm39) |
E1583K |
probably damaging |
Het |
Eed |
G |
T |
7: 89,621,493 (GRCm39) |
N51K |
probably damaging |
Het |
Efcab14 |
A |
G |
4: 115,617,261 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
A |
C |
4: 136,384,762 (GRCm39) |
M884R |
probably damaging |
Het |
Foxn2 |
G |
T |
17: 88,770,479 (GRCm39) |
A109S |
probably benign |
Het |
Fut1 |
A |
T |
7: 45,268,871 (GRCm39) |
D220V |
probably damaging |
Het |
Gm6468 |
C |
T |
5: 95,429,066 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
A |
T |
7: 83,405,515 (GRCm39) |
|
noncoding transcript |
Het |
Gm9772 |
C |
T |
17: 22,226,031 (GRCm39) |
|
probably benign |
Het |
Golph3 |
G |
T |
15: 12,349,578 (GRCm39) |
M199I |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,394,884 (GRCm39) |
N1666D |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,944,922 (GRCm39) |
T548A |
unknown |
Het |
Kif12 |
C |
T |
4: 63,084,732 (GRCm39) |
E529K |
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Lrrc52 |
T |
A |
1: 167,293,949 (GRCm39) |
N112I |
probably damaging |
Het |
Msi1 |
T |
A |
5: 115,579,506 (GRCm39) |
|
probably null |
Het |
Nasp |
T |
G |
4: 116,461,997 (GRCm39) |
E170A |
probably damaging |
Het |
Necab2 |
T |
A |
8: 120,189,391 (GRCm39) |
V187E |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,929,804 (GRCm39) |
E5790G |
probably damaging |
Het |
Or7e176 |
A |
T |
9: 20,171,511 (GRCm39) |
D125V |
probably damaging |
Het |
Or9a7 |
A |
G |
6: 40,520,980 (GRCm39) |
L311P |
probably damaging |
Het |
Pard3b |
C |
T |
1: 62,205,541 (GRCm39) |
T445I |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,335,377 (GRCm39) |
I564V |
probably benign |
Het |
Pcdhb22 |
T |
A |
18: 37,653,602 (GRCm39) |
L690Q |
probably damaging |
Het |
Pemt |
T |
A |
11: 59,867,680 (GRCm39) |
T115S |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,913,669 (GRCm39) |
N226S |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,636,341 (GRCm39) |
S750P |
probably damaging |
Het |
Prtg |
T |
C |
9: 72,758,771 (GRCm39) |
V375A |
probably damaging |
Het |
Psd3 |
A |
C |
8: 68,356,797 (GRCm39) |
M673R |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,372,437 (GRCm39) |
I1392V |
probably damaging |
Het |
Rlf |
G |
A |
4: 121,039,811 (GRCm39) |
T200I |
probably benign |
Het |
Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
Rpe65 |
A |
G |
3: 159,309,988 (GRCm39) |
D87G |
possibly damaging |
Het |
Sema3g |
T |
C |
14: 30,943,181 (GRCm39) |
V148A |
probably damaging |
Het |
Sgms2 |
G |
A |
3: 131,116,833 (GRCm39) |
P341S |
probably benign |
Het |
Skint7 |
A |
T |
4: 111,839,225 (GRCm39) |
Q173L |
possibly damaging |
Het |
Slc2a9 |
G |
A |
5: 38,594,013 (GRCm39) |
A150V |
probably benign |
Het |
Slc35c2 |
A |
G |
2: 165,124,801 (GRCm39) |
L58P |
probably damaging |
Het |
Slc7a6 |
G |
A |
8: 106,923,206 (GRCm39) |
C495Y |
possibly damaging |
Het |
Smurf1 |
G |
A |
5: 144,823,248 (GRCm39) |
P458L |
probably damaging |
Het |
Spag1 |
C |
T |
15: 36,221,710 (GRCm39) |
T601I |
probably benign |
Het |
Spink8 |
A |
T |
9: 109,649,665 (GRCm39) |
Q49L |
possibly damaging |
Het |
Spout1 |
A |
T |
2: 30,065,266 (GRCm39) |
Y284N |
probably damaging |
Het |
Srrm1 |
A |
T |
4: 135,080,427 (GRCm39) |
M1K |
probably null |
Het |
Stxbp5l |
A |
G |
16: 37,150,257 (GRCm39) |
L116P |
probably damaging |
Het |
Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
Tmem41b |
A |
G |
7: 109,577,960 (GRCm39) |
V108A |
probably damaging |
Het |
Tra2b |
A |
G |
16: 22,067,790 (GRCm39) |
|
probably benign |
Het |
Trio |
G |
T |
15: 27,902,647 (GRCm39) |
H271Q |
probably benign |
Het |
Ttn |
A |
G |
2: 76,723,263 (GRCm39) |
|
probably benign |
Het |
Usp51 |
A |
T |
X: 151,791,669 (GRCm39) |
H421L |
probably damaging |
Het |
Vmn2r29 |
A |
T |
7: 7,244,810 (GRCm39) |
W355R |
probably damaging |
Het |
Vpreb1a |
T |
C |
16: 16,686,603 (GRCm39) |
N96D |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zp3r |
C |
A |
1: 130,524,404 (GRCm39) |
C213F |
probably damaging |
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 |
|
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 |
R1818:Ahi1
|
UTSW |
10 |
20,864,461 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2015-04-16 |