Incidental Mutation 'R9013:Ahi1'
ID |
685770 |
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 |
068843-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R9013 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20883658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 841
(I841T)
|
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: I841T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: I841T
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 |
possibly damaging
Transcript: ENSMUST00000213104
AA Change: I841T
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
G |
T |
14: 70,394,176 (GRCm39) |
L200I |
probably damaging |
Het |
Afap1 |
G |
A |
5: 36,133,932 (GRCm39) |
D456N |
possibly damaging |
Het |
Afm |
A |
T |
5: 90,671,594 (GRCm39) |
D92V |
probably damaging |
Het |
Asb1 |
T |
C |
1: 91,480,163 (GRCm39) |
|
probably null |
Het |
Astn1 |
A |
T |
1: 158,348,070 (GRCm39) |
I507F |
probably damaging |
Het |
Astn2 |
A |
G |
4: 65,910,584 (GRCm39) |
M468T |
probably benign |
Het |
C030006K11Rik |
T |
C |
15: 76,608,004 (GRCm39) |
S5G |
probably benign |
Het |
C9 |
A |
T |
15: 6,516,193 (GRCm39) |
D332V |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,719,266 (GRCm39) |
S423T |
probably damaging |
Het |
Cbx8 |
T |
C |
11: 118,929,649 (GRCm39) |
I315V |
possibly damaging |
Het |
Ccdc50 |
T |
A |
16: 27,228,106 (GRCm39) |
I91N |
probably damaging |
Het |
Col4a1 |
T |
A |
8: 11,272,270 (GRCm39) |
I707L |
probably benign |
Het |
Cyc1 |
T |
C |
15: 76,229,019 (GRCm39) |
V154A |
possibly damaging |
Het |
Cyp4f40 |
A |
T |
17: 32,890,173 (GRCm39) |
H281L |
probably benign |
Het |
D130052B06Rik |
T |
G |
11: 33,573,491 (GRCm39) |
C74W |
unknown |
Het |
Dap |
G |
A |
15: 31,273,344 (GRCm39) |
G66D |
probably damaging |
Het |
Dclk3 |
A |
T |
9: 111,297,566 (GRCm39) |
H370L |
probably benign |
Het |
Dgka |
C |
A |
10: 128,566,071 (GRCm39) |
E360* |
probably null |
Het |
Dst |
A |
G |
1: 34,217,165 (GRCm39) |
I1202V |
possibly damaging |
Het |
Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
Gpx2 |
A |
G |
12: 76,842,118 (GRCm39) |
L11P |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,789,970 (GRCm39) |
L26S |
probably damaging |
Het |
Gtpbp2 |
A |
G |
17: 46,475,740 (GRCm39) |
K163R |
probably benign |
Het |
Hsd3b1 |
A |
T |
3: 98,759,977 (GRCm39) |
L338Q |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,732,576 (GRCm39) |
S67G |
probably benign |
Het |
Kcnc2 |
C |
T |
10: 112,107,723 (GRCm39) |
A38V |
probably damaging |
Het |
Kif19b |
A |
T |
5: 140,449,368 (GRCm39) |
Y180F |
probably damaging |
Het |
Klk1b16 |
A |
G |
7: 43,790,332 (GRCm39) |
D169G |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,761,208 (GRCm39) |
K214E |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,573,189 (GRCm39) |
V648D |
probably damaging |
Het |
Lrriq1 |
C |
T |
10: 103,050,931 (GRCm39) |
G607D |
probably damaging |
Het |
Lysmd3 |
T |
A |
13: 81,817,580 (GRCm39) |
S186T |
probably damaging |
Het |
Meis1 |
G |
T |
11: 18,966,354 (GRCm39) |
D6E |
probably benign |
Het |
Mfsd4b2 |
T |
G |
10: 39,798,062 (GRCm39) |
T98P |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,424,069 (GRCm39) |
E8193V |
possibly damaging |
Het |
Nr1i3 |
A |
G |
1: 171,042,026 (GRCm39) |
T37A |
probably damaging |
Het |
Nr5a2 |
A |
T |
1: 136,872,745 (GRCm39) |
D112E |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,943,497 (GRCm39) |
I214T |
probably damaging |
Het |
Omp |
A |
G |
7: 97,794,552 (GRCm39) |
M25T |
probably benign |
Het |
Or12d17 |
G |
A |
17: 37,777,441 (GRCm39) |
V115M |
probably benign |
Het |
Or12j4 |
A |
T |
7: 140,046,179 (GRCm39) |
R22W |
probably benign |
Het |
Or13c9 |
C |
A |
4: 52,935,900 (GRCm39) |
A128S |
probably benign |
Het |
Or5p58 |
A |
G |
7: 107,694,471 (GRCm39) |
I102T |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,495,702 (GRCm39) |
F9S |
probably damaging |
Het |
Or7g12 |
A |
T |
9: 18,899,874 (GRCm39) |
I197F |
possibly damaging |
Het |
Paf1 |
A |
G |
7: 28,098,133 (GRCm39) |
E381G |
unknown |
Het |
Pcdhga8 |
A |
G |
18: 37,858,997 (GRCm39) |
T18A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,727,627 (GRCm39) |
S2162P |
unknown |
Het |
Psg25 |
T |
C |
7: 18,258,690 (GRCm39) |
I329V |
probably benign |
Het |
Ptov1 |
A |
G |
7: 44,514,985 (GRCm39) |
S209P |
possibly damaging |
Het |
Ralgapb |
A |
G |
2: 158,279,060 (GRCm39) |
K397E |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,618,618 (GRCm39) |
T3866S |
probably damaging |
Het |
Sdccag8 |
G |
A |
1: 176,652,371 (GRCm39) |
V41I |
probably benign |
Het |
Sdf2l1 |
T |
A |
16: 16,948,630 (GRCm39) |
D136V |
possibly damaging |
Het |
Slc26a7 |
A |
T |
4: 14,506,514 (GRCm39) |
S612T |
probably damaging |
Het |
Snf8 |
T |
C |
11: 95,930,126 (GRCm39) |
F43L |
probably benign |
Het |
Snta1 |
A |
T |
2: 154,245,809 (GRCm39) |
M104K |
probably damaging |
Het |
Sox2 |
T |
A |
3: 34,704,746 (GRCm39) |
M61K |
probably damaging |
Het |
Spata31e3 |
T |
C |
13: 50,401,588 (GRCm39) |
H246R |
possibly damaging |
Het |
Spats2 |
T |
A |
15: 99,097,128 (GRCm39) |
D293E |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,050,174 (GRCm39) |
D1738G |
probably damaging |
Het |
Sqstm1 |
A |
T |
11: 50,098,684 (GRCm39) |
Y89N |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,050,957 (GRCm39) |
N5K |
probably benign |
Het |
Syne4 |
A |
G |
7: 30,017,418 (GRCm39) |
H294R |
probably damaging |
Het |
Tbc1d7 |
A |
C |
13: 43,322,310 (GRCm39) |
F45V |
probably damaging |
Het |
Tekt3 |
T |
A |
11: 62,974,684 (GRCm39) |
N334K |
probably damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,300,620 (GRCm39) |
H266R |
possibly damaging |
Het |
Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
Trip11 |
A |
G |
12: 101,851,377 (GRCm39) |
S896P |
probably damaging |
Het |
Tubb6 |
T |
C |
18: 67,526,046 (GRCm39) |
V66A |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,016,403 (GRCm39) |
L1189P |
probably damaging |
Het |
Usp34 |
T |
G |
11: 23,320,302 (GRCm39) |
V911G |
|
Het |
Wdr53 |
C |
T |
16: 32,075,413 (GRCm39) |
A206V |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,920,981 (GRCm39) |
E1364G |
probably benign |
Het |
Ywhag |
T |
C |
5: 135,940,217 (GRCm39) |
M126V |
probably damaging |
Het |
Zfp383 |
C |
T |
7: 29,614,717 (GRCm39) |
P324L |
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 |
|
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 |
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 |
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'- ACTCAGTGGAAACGATGCAG -3'
(R):5'- TTACATCCCAGTTGCTAGGAC -3'
Sequencing Primer
(F):5'- TGGAAACGATGCAGACTGACAATTC -3'
(R):5'- CCCAGTTGCTAGGACTTTAAATC -3'
|
Posted On |
2021-10-11 |