Incidental Mutation 'R2566:Ahi1'
ID |
254482 |
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 |
040425-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R2566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 20846810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 413
(C413*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000213104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000105525
AA Change: C413*
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: C413*
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 null
Transcript: ENSMUST00000213104
AA Change: C413*
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,055,701 (GRCm39) |
K408E |
probably damaging |
Het |
2010315B03Rik |
T |
A |
9: 124,055,783 (GRCm39) |
K380N |
probably damaging |
Het |
9230104M06Rik |
C |
T |
12: 112,964,359 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,599,464 (GRCm39) |
M1430K |
possibly damaging |
Het |
Ankrd52 |
G |
T |
10: 128,225,220 (GRCm39) |
A894S |
probably benign |
Het |
Arhgap33 |
C |
A |
7: 30,226,654 (GRCm39) |
V494L |
probably damaging |
Het |
Atic |
G |
T |
1: 71,608,130 (GRCm39) |
V275F |
probably damaging |
Het |
Atoh1 |
T |
A |
6: 64,706,668 (GRCm39) |
V121E |
probably damaging |
Het |
Atp5pd |
T |
A |
11: 115,306,864 (GRCm39) |
|
probably null |
Het |
Baiap2l2 |
A |
T |
15: 79,146,174 (GRCm39) |
|
probably null |
Het |
Brca2 |
A |
T |
5: 150,465,227 (GRCm39) |
T1664S |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
Cep350 |
A |
T |
1: 155,835,464 (GRCm39) |
|
probably null |
Het |
Ces2g |
T |
C |
8: 105,692,621 (GRCm39) |
|
probably null |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyp2d34 |
A |
G |
15: 82,500,368 (GRCm39) |
F457S |
probably damaging |
Het |
Disp3 |
T |
A |
4: 148,325,880 (GRCm39) |
T1293S |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,517,970 (GRCm39) |
I1348F |
possibly damaging |
Het |
Dsp |
A |
T |
13: 38,380,380 (GRCm39) |
H1776L |
probably damaging |
Het |
Efhd1 |
A |
T |
1: 87,237,477 (GRCm39) |
Q228L |
possibly damaging |
Het |
Entpd2 |
T |
A |
2: 25,289,295 (GRCm39) |
I259N |
probably benign |
Het |
Fam149b |
A |
T |
14: 20,425,578 (GRCm39) |
M138L |
probably damaging |
Het |
Fastkd5 |
T |
C |
2: 130,458,285 (GRCm39) |
K102E |
probably benign |
Het |
Fzd7 |
C |
A |
1: 59,523,695 (GRCm39) |
T526K |
possibly damaging |
Het |
G6pd2 |
T |
A |
5: 61,966,330 (GRCm39) |
I35N |
probably damaging |
Het |
Gars1 |
T |
A |
6: 55,042,548 (GRCm39) |
M427K |
probably damaging |
Het |
Gimap4 |
C |
T |
6: 48,667,799 (GRCm39) |
R57C |
probably damaging |
Het |
Gm11232 |
C |
A |
4: 71,676,022 (GRCm39) |
W41L |
probably benign |
Het |
Gm15737 |
T |
A |
6: 92,856,701 (GRCm39) |
C43* |
probably null |
Het |
Gpr180 |
T |
C |
14: 118,377,185 (GRCm39) |
V62A |
probably benign |
Het |
H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
Jakmip3 |
A |
T |
7: 138,591,197 (GRCm39) |
E27V |
possibly damaging |
Het |
Kcnq3 |
T |
C |
15: 65,903,276 (GRCm39) |
T145A |
probably damaging |
Het |
Krt8 |
A |
G |
15: 101,906,459 (GRCm39) |
M350T |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,492 (GRCm39) |
|
probably benign |
Het |
Lbr |
G |
T |
1: 181,663,692 (GRCm39) |
D109E |
probably damaging |
Het |
Ldc1 |
A |
T |
4: 130,103,681 (GRCm39) |
L420Q |
probably benign |
Het |
Med23 |
A |
G |
10: 24,764,473 (GRCm39) |
H42R |
probably damaging |
Het |
Mgat5 |
A |
T |
1: 127,234,741 (GRCm39) |
M77L |
probably benign |
Het |
Mlf1 |
A |
T |
3: 67,291,919 (GRCm39) |
N28I |
possibly damaging |
Het |
Mroh3 |
A |
C |
1: 136,125,864 (GRCm39) |
L343R |
probably damaging |
Het |
Mrpl37 |
T |
A |
4: 106,921,690 (GRCm39) |
I180F |
possibly damaging |
Het |
Mrps27 |
T |
A |
13: 99,536,836 (GRCm39) |
C116* |
probably null |
Het |
Muc6 |
A |
G |
7: 141,226,651 (GRCm39) |
S1354P |
possibly damaging |
Het |
Myh7 |
A |
T |
14: 55,220,699 (GRCm39) |
D1033E |
probably damaging |
Het |
Myo16 |
A |
T |
8: 10,644,820 (GRCm39) |
E1717D |
probably benign |
Het |
Myo1g |
T |
A |
11: 6,462,539 (GRCm39) |
|
probably null |
Het |
Or51ag1 |
A |
G |
7: 103,155,367 (GRCm39) |
M262T |
probably benign |
Het |
Or6c217 |
A |
C |
10: 129,737,964 (GRCm39) |
L205R |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,149,766 (GRCm39) |
L576P |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,032,223 (GRCm39) |
S278P |
possibly damaging |
Het |
Pdk2 |
A |
G |
11: 94,918,028 (GRCm39) |
|
probably null |
Het |
Phf1 |
T |
C |
17: 27,156,062 (GRCm39) |
S450P |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,746,233 (GRCm39) |
Y1919C |
probably damaging |
Het |
Postn |
T |
A |
3: 54,284,374 (GRCm39) |
S614T |
probably damaging |
Het |
Psmg1 |
A |
T |
16: 95,783,395 (GRCm39) |
Y213* |
probably null |
Het |
Rab11b |
T |
A |
17: 33,966,692 (GRCm39) |
T203S |
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,580,825 (GRCm39) |
T899S |
possibly damaging |
Het |
Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,578,537 (GRCm39) |
T1028A |
possibly damaging |
Het |
Rbm6 |
A |
G |
9: 107,669,197 (GRCm39) |
S58P |
possibly damaging |
Het |
Rreb1 |
G |
T |
13: 38,113,768 (GRCm39) |
A376S |
possibly damaging |
Het |
Rsbn1l |
T |
A |
5: 21,124,767 (GRCm39) |
N345I |
probably benign |
Het |
Sf3b2 |
A |
T |
19: 5,325,118 (GRCm39) |
S785T |
possibly damaging |
Het |
Sh2b1 |
C |
T |
7: 126,068,098 (GRCm39) |
D519N |
probably damaging |
Het |
Slitrk6 |
T |
C |
14: 110,987,704 (GRCm39) |
T668A |
probably benign |
Het |
Stkld1 |
T |
A |
2: 26,840,650 (GRCm39) |
I444N |
probably damaging |
Het |
Sucla2 |
A |
T |
14: 73,790,244 (GRCm39) |
|
probably benign |
Het |
Tmem67 |
T |
A |
4: 12,079,918 (GRCm39) |
L190F |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trem2 |
G |
A |
17: 48,658,863 (GRCm39) |
W191* |
probably null |
Het |
Ube2d4 |
A |
T |
15: 58,718,528 (GRCm39) |
|
noncoding transcript |
Het |
Uimc1 |
G |
T |
13: 55,223,617 (GRCm39) |
D218E |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,973,424 (GRCm39) |
V95E |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,310,203 (GRCm39) |
V862A |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,008,522 (GRCm39) |
S163T |
probably benign |
Het |
Zfp704 |
T |
C |
3: 9,674,553 (GRCm39) |
D76G |
unknown |
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 |
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'- TTGACCCCATGACAGGAGTG -3'
(R):5'- GCCGACAGTAAGCAGCATTAAC -3'
Sequencing Primer
(F):5'- AGTGAGCCAGTTCCCACAAGTG -3'
(R):5'- CCCAGCTAAATAAAGAGTACTCAGAG -3'
|
Posted On |
2014-12-04 |