Incidental Mutation 'R7327:Ahi1'
| ID |
568999 |
| 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 |
045420-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R7327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20862976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 717
(V717E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101164
(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: V717E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: V717E
| 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: V717E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.5965 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,367,430 (GRCm39) |
T3I |
probably benign |
Het |
| Anapc4 |
A |
G |
5: 53,002,672 (GRCm39) |
T238A |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,251,367 (GRCm39) |
C120* |
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,178,040 (GRCm39) |
V1943D |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,373,461 (GRCm39) |
V141A |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,215,062 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
C |
A |
9: 71,633,165 (GRCm39) |
R62L |
possibly damaging |
Het |
| Chaf1a |
A |
G |
17: 56,369,573 (GRCm39) |
S522G |
probably benign |
Het |
| Cox19 |
A |
G |
5: 139,328,402 (GRCm39) |
F37S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,756 (GRCm39) |
R346W |
probably damaging |
Het |
| Dip2a |
A |
C |
10: 76,108,396 (GRCm39) |
C1315G |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,308,869 (GRCm39) |
W1961G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,486 (GRCm39) |
L1945P |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,691,627 (GRCm39) |
S92G |
probably damaging |
Het |
| Ep300 |
C |
T |
15: 81,511,515 (GRCm39) |
T865I |
unknown |
Het |
| Ercc6 |
A |
G |
14: 32,248,361 (GRCm39) |
E304G |
probably benign |
Het |
| Filip1l |
A |
C |
16: 57,391,300 (GRCm39) |
E629D |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Glb1 |
T |
C |
9: 114,246,126 (GRCm39) |
F59S |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,900,144 (GRCm39) |
L1177P |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,303,646 (GRCm39) |
T223A |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,479,565 (GRCm39) |
M4633K |
probably benign |
Het |
| Hoxc8 |
T |
A |
15: 102,899,542 (GRCm39) |
Y111N |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
| Iqcn |
T |
A |
8: 71,169,453 (GRCm39) |
M1181K |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,772,163 (GRCm39) |
M1339L |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,387 (GRCm39) |
Q901R |
possibly damaging |
Het |
| Krtap4-8 |
C |
A |
11: 99,671,234 (GRCm39) |
C79F |
unknown |
Het |
| Ldb3 |
T |
C |
14: 34,293,759 (GRCm39) |
N155S |
probably damaging |
Het |
| Mad2l1 |
T |
A |
6: 66,516,794 (GRCm39) |
V162E |
probably benign |
Het |
| Map7 |
T |
A |
10: 20,109,208 (GRCm39) |
V87E |
unknown |
Het |
| Mndal |
A |
T |
1: 173,703,185 (GRCm39) |
D73E |
unknown |
Het |
| Msantd1 |
T |
C |
5: 35,075,039 (GRCm39) |
S34P |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,260,977 (GRCm39) |
Q1838R |
possibly damaging |
Het |
| Myh15 |
G |
T |
16: 48,993,369 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,796 (GRCm39) |
M666T |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,116,686 (GRCm39) |
L944Q |
probably benign |
Het |
| Or5h27 |
A |
T |
16: 59,006,376 (GRCm39) |
F157I |
unknown |
Het |
| Orc1 |
A |
G |
4: 108,445,911 (GRCm39) |
T10A |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pglyrp2 |
C |
T |
17: 32,634,893 (GRCm39) |
A490T |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,187 (GRCm39) |
C395* |
probably null |
Het |
| Ppp1r11 |
T |
C |
17: 37,261,900 (GRCm39) |
R12G |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,346,524 (GRCm39) |
D290G |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,646,360 (GRCm39) |
R1033S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,570,660 (GRCm39) |
L1220P |
possibly damaging |
Het |
| Rufy3 |
G |
A |
5: 88,790,811 (GRCm39) |
R504H |
probably damaging |
Het |
| Scgb2b21 |
C |
T |
7: 33,219,330 (GRCm39) |
V25I |
probably benign |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slain2 |
A |
T |
5: 73,132,002 (GRCm39) |
T498S |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,499,462 (GRCm39) |
I307F |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,655,598 (GRCm39) |
G800R |
unknown |
Het |
| Tnc |
G |
T |
4: 63,882,999 (GRCm39) |
|
probably null |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,514 (GRCm39) |
|
probably benign |
Het |
| Txk |
A |
T |
5: 72,873,226 (GRCm39) |
I228N |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,438,252 (GRCm39) |
Y622H |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr35 |
T |
G |
12: 9,037,312 (GRCm39) |
M306R |
probably benign |
Het |
| Zan |
A |
T |
5: 137,463,494 (GRCm39) |
S562T |
probably benign |
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 |
|
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 |
|
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'- AATAACATTTGTTTCCCTCTAGTCCT -3'
(R):5'- GTCCAATGTCTGCGTGTGT -3'
Sequencing Primer
(F):5'- TCCCTCTAGTCCTTTAAGTAGTTAAG -3'
(R):5'- CGATATGAACAGCAGCTTCTTGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation