Incidental Mutation 'R0448:Ahi1'
ID |
39457 |
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 |
038648-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R0448 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20847974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 461
(G461S)
|
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: G461S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: G461S
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: G461S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
Validation Efficiency |
100% (74/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,218,687 (GRCm39) |
R232C |
probably damaging |
Het |
Adam9 |
A |
G |
8: 25,454,926 (GRCm39) |
S732P |
probably damaging |
Het |
Add2 |
G |
A |
6: 86,069,901 (GRCm39) |
V140I |
probably benign |
Het |
Aoc1l2 |
A |
T |
6: 48,909,991 (GRCm39) |
S643C |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,869,659 (GRCm39) |
T432A |
possibly damaging |
Het |
Arsi |
T |
C |
18: 61,050,374 (GRCm39) |
I419T |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,399,047 (GRCm39) |
P1515L |
possibly damaging |
Het |
Brcc3 |
T |
A |
X: 74,493,647 (GRCm39) |
L222* |
probably null |
Het |
Brpf3 |
A |
T |
17: 29,025,010 (GRCm39) |
T28S |
probably benign |
Het |
Cdc20b |
T |
A |
13: 113,215,191 (GRCm39) |
V253E |
probably damaging |
Het |
Cnot6l |
T |
A |
5: 96,227,905 (GRCm39) |
S443C |
probably benign |
Het |
Copg1 |
G |
A |
6: 87,881,908 (GRCm39) |
A587T |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,962,076 (GRCm39) |
D391G |
probably benign |
Het |
Crocc |
A |
T |
4: 140,769,502 (GRCm39) |
D283E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,318 (GRCm39) |
N25S |
probably benign |
Het |
Csnk1g1 |
T |
C |
9: 65,888,230 (GRCm39) |
F90L |
possibly damaging |
Het |
Cyp2j6 |
A |
G |
4: 96,433,965 (GRCm39) |
V115A |
probably benign |
Het |
Cyp3a11 |
T |
C |
5: 145,799,204 (GRCm39) |
I328V |
probably benign |
Het |
Dchs1 |
C |
A |
7: 105,415,134 (GRCm39) |
E683D |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,809,539 (GRCm39) |
|
probably benign |
Het |
Dqx1 |
T |
C |
6: 83,037,326 (GRCm39) |
S330P |
probably damaging |
Het |
Epg5 |
A |
G |
18: 78,066,580 (GRCm39) |
Y2160C |
probably damaging |
Het |
Ercc5 |
T |
C |
1: 44,213,100 (GRCm39) |
L742P |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,839,660 (GRCm39) |
I491T |
probably benign |
Het |
Flt1 |
C |
T |
5: 147,503,204 (GRCm39) |
|
probably benign |
Het |
Grip2 |
A |
G |
6: 91,756,194 (GRCm39) |
S498P |
probably damaging |
Het |
H2-T22 |
A |
G |
17: 36,353,278 (GRCm39) |
L14P |
possibly damaging |
Het |
Hephl1 |
C |
T |
9: 14,988,222 (GRCm39) |
G629S |
probably damaging |
Het |
Hsdl2 |
T |
A |
4: 59,606,523 (GRCm39) |
M162K |
unknown |
Het |
Kcnh8 |
C |
A |
17: 53,284,648 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
C |
15: 101,799,082 (GRCm39) |
Q201R |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,078,322 (GRCm39) |
Y319N |
probably benign |
Het |
Lrrk2 |
T |
G |
15: 91,593,508 (GRCm39) |
I489R |
probably damaging |
Het |
Mboat1 |
G |
T |
13: 30,386,393 (GRCm39) |
D136Y |
probably damaging |
Het |
Mcmdc2 |
T |
C |
1: 10,010,767 (GRCm39) |
*682Q |
probably null |
Het |
Msx2 |
C |
A |
13: 53,622,431 (GRCm39) |
R193L |
probably damaging |
Het |
Nfatc4 |
T |
G |
14: 56,069,111 (GRCm39) |
D625E |
possibly damaging |
Het |
Nup153 |
T |
C |
13: 46,870,657 (GRCm39) |
E86G |
probably benign |
Het |
Or2g7 |
G |
T |
17: 38,378,563 (GRCm39) |
R167L |
probably benign |
Het |
Or4k45 |
T |
A |
2: 111,395,559 (GRCm39) |
I77F |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,205,628 (GRCm39) |
L474P |
probably damaging |
Het |
Pate11 |
T |
A |
9: 36,388,412 (GRCm39) |
M79K |
probably benign |
Het |
Pggt1b |
A |
T |
18: 46,396,039 (GRCm39) |
|
probably benign |
Het |
Pik3r2 |
A |
G |
8: 71,224,688 (GRCm39) |
|
probably benign |
Het |
Prr14 |
A |
G |
7: 127,073,898 (GRCm39) |
|
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,415,869 (GRCm39) |
|
probably benign |
Het |
Rufy2 |
G |
A |
10: 62,840,515 (GRCm39) |
D429N |
probably benign |
Het |
S1pr5 |
T |
A |
9: 21,155,503 (GRCm39) |
T308S |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,354 (GRCm39) |
S93P |
probably benign |
Het |
Serpinb1b |
T |
G |
13: 33,273,675 (GRCm39) |
H123Q |
probably benign |
Het |
Sftpc |
C |
T |
14: 70,760,120 (GRCm39) |
V46I |
probably benign |
Het |
Skint8 |
T |
A |
4: 111,794,087 (GRCm39) |
V159D |
probably damaging |
Het |
Slc25a11 |
T |
C |
11: 70,536,405 (GRCm39) |
N134S |
probably benign |
Het |
Slc25a24 |
T |
C |
3: 109,064,332 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
C |
G |
9: 41,915,384 (GRCm39) |
V1282L |
probably damaging |
Het |
Sptan1 |
T |
A |
2: 29,916,822 (GRCm39) |
I2170N |
probably damaging |
Het |
Syne4 |
A |
G |
7: 30,014,345 (GRCm39) |
|
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tg |
C |
A |
15: 66,636,291 (GRCm39) |
P626Q |
probably damaging |
Het |
Thoc6 |
T |
A |
17: 23,888,550 (GRCm39) |
D196V |
probably damaging |
Het |
Tpi1 |
A |
G |
6: 124,791,066 (GRCm39) |
F57S |
probably damaging |
Het |
Tril |
A |
G |
6: 53,794,793 (GRCm39) |
*810Q |
probably null |
Het |
Trrap |
T |
A |
5: 144,776,377 (GRCm39) |
V2972D |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,591,624 (GRCm39) |
V12688E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,551,283 (GRCm39) |
M31370V |
probably damaging |
Het |
Txndc11 |
A |
G |
16: 10,909,625 (GRCm39) |
F307S |
probably damaging |
Het |
Vmn1r40 |
C |
T |
6: 89,691,642 (GRCm39) |
S153L |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,672,005 (GRCm39) |
T581A |
possibly damaging |
Het |
Wdtc1 |
A |
G |
4: 133,024,811 (GRCm39) |
F462S |
probably damaging |
Het |
Zfp101 |
A |
G |
17: 33,601,295 (GRCm39) |
S154P |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,002,487 (GRCm39) |
N481D |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACAGGAAACCACTTCTGCACTG -3'
(R):5'- GTCACCACGGGAACTGTCTTTGAG -3'
Sequencing Primer
(F):5'- CTGTTCTGTGTAAATGtctctctatc -3'
(R):5'- GAGGGACTTCAGAGCCTTATTAC -3'
|
Posted On |
2013-05-23 |