Incidental Mutation 'R8560:Ahi1'
| ID |
660996 |
| 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 |
068523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R8560 (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 C
at 20835814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 49
(V49A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000213104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105525
AA Change: V49A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: V49A
| 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 benign
Transcript: ENSMUST00000213104
AA Change: V49A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| Aak1 |
T |
C |
6: 86,958,374 (GRCm39) |
V819A |
unknown |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
C |
T |
19: 4,891,901 (GRCm39) |
R798W |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,294,360 (GRCm39) |
L506S |
possibly damaging |
Het |
| Chsy3 |
T |
C |
18: 59,543,130 (GRCm39) |
V756A |
possibly damaging |
Het |
| Cisd3 |
G |
T |
11: 97,576,689 (GRCm39) |
W5L |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,984,249 (GRCm39) |
H339Q |
probably damaging |
Het |
| Cybc1 |
G |
T |
11: 121,115,041 (GRCm39) |
A154D |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,126,649 (GRCm39) |
I1454F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,603,144 (GRCm39) |
S448P |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,533,898 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
A |
G |
3: 159,219,912 (GRCm39) |
K139E |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,714,132 (GRCm39) |
K1874R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,307,970 (GRCm39) |
H4229R |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,202,375 (GRCm39) |
D512G |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,457,865 (GRCm39) |
I242L |
probably benign |
Het |
| Foxo3 |
G |
A |
10: 42,151,278 (GRCm39) |
T51M |
possibly damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm14410 |
C |
A |
2: 176,885,445 (GRCm39) |
C273F |
probably damaging |
Het |
| Gucy1b1 |
G |
T |
3: 81,942,685 (GRCm39) |
P486T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,265,106 (GRCm39) |
N2763S |
probably benign |
Het |
| Ifna2 |
C |
A |
4: 88,601,502 (GRCm39) |
W172L |
possibly damaging |
Het |
| Igkv6-29 |
T |
C |
6: 70,115,651 (GRCm39) |
N48D |
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,459,226 (GRCm39) |
D792E |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,023,379 (GRCm39) |
A563E |
probably damaging |
Het |
| Klra4 |
C |
A |
6: 130,042,235 (GRCm39) |
V11L |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,009,676 (GRCm39) |
E368G |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,047,495 (GRCm39) |
|
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,461,826 (GRCm39) |
I107T |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,992,166 (GRCm39) |
I316V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,743,830 (GRCm39) |
V4022E |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,945,026 (GRCm39) |
N84D |
probably damaging |
Het |
| Mx1 |
T |
G |
16: 97,253,987 (GRCm39) |
T298P |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,405 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,465,124 (GRCm39) |
E660G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,316 (GRCm39) |
N242K |
probably benign |
Het |
| Nsun5 |
A |
G |
5: 135,404,743 (GRCm39) |
T435A |
probably benign |
Het |
| Or14j4 |
C |
T |
17: 37,920,949 (GRCm39) |
S231N |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,794 (GRCm39) |
D4V |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,211,656 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcdhb17 |
C |
T |
18: 37,619,206 (GRCm39) |
T332M |
possibly damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,089,151 (GRCm39) |
Q171* |
probably null |
Het |
| Plb1 |
T |
C |
5: 32,460,023 (GRCm39) |
V421A |
possibly damaging |
Het |
| Prkag2 |
TTTTTTTTTTTTA |
T |
5: 25,071,063 (GRCm39) |
|
probably benign |
Het |
| Prlhr |
A |
G |
19: 60,456,635 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,382,600 (GRCm39) |
C435* |
probably null |
Het |
| Rnf183 |
T |
A |
4: 62,346,735 (GRCm39) |
N21I |
probably damaging |
Het |
| Rnf41 |
T |
A |
10: 128,274,222 (GRCm39) |
C291* |
probably null |
Het |
| Shd |
T |
C |
17: 56,278,616 (GRCm39) |
S60P |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,360,545 (GRCm39) |
T243A |
probably benign |
Het |
| Slc33a1 |
A |
T |
3: 63,850,773 (GRCm39) |
I517N |
possibly damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,244,083 (GRCm39) |
M682R |
possibly damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,514 (GRCm39) |
N245K |
probably damaging |
Het |
| Stx7 |
T |
C |
10: 24,057,454 (GRCm39) |
I160T |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,891,608 (GRCm39) |
I836V |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,268,514 (GRCm39) |
N861Y |
probably damaging |
Het |
| Trappc5 |
T |
A |
8: 3,729,303 (GRCm39) |
W94R |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,715,295 (GRCm39) |
I673V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,615 (GRCm39) |
Y26426C |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,336,260 (GRCm39) |
G591R |
|
Het |
| Zfp236 |
G |
A |
18: 82,664,340 (GRCm39) |
R482W |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,685,635 (GRCm39) |
M750K |
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 |
|
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 |
|
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'- GTGAGCAGCACGTGAAGATTC -3'
(R):5'- CCTTGACTCAGGCTTAGTGG -3'
Sequencing Primer
(F):5'- GACAATGTTAGTGTAGAGCCATAC -3'
(R):5'- ACTCAGGCTTAGTGGGCACTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation