Incidental Mutation 'R5604:Ahi1'
| ID |
439193 |
| 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 |
043156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R5604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20862904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 693
(Y693C)
|
| 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: Y693C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: Y693C
| 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: Y693C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,556,278 (GRCm39) |
N164I |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 88,295,125 (GRCm39) |
R88S |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,067,168 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,516,279 (GRCm39) |
I4406K |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,420 (GRCm39) |
Y412* |
probably null |
Het |
| Ahcyl2 |
C |
T |
6: 29,908,366 (GRCm39) |
H370Y |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 52,999,076 (GRCm39) |
Y129* |
probably null |
Het |
| Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
| Antxr2 |
T |
C |
5: 98,096,169 (GRCm39) |
K372E |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,612,210 (GRCm39) |
H198Y |
probably benign |
Het |
| Barhl2 |
T |
C |
5: 106,603,412 (GRCm39) |
E249G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,957,747 (GRCm39) |
E987G |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,290,788 (GRCm39) |
T490M |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,303,159 (GRCm39) |
V78A |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,866,701 (GRCm39) |
Y374H |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,271 (GRCm39) |
R1939H |
probably benign |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,256 (GRCm39) |
F19S |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| E4f1 |
A |
G |
17: 24,663,118 (GRCm39) |
I729T |
probably damaging |
Het |
| Endou |
A |
C |
15: 97,618,800 (GRCm39) |
S75A |
probably benign |
Het |
| Epas1 |
C |
T |
17: 87,113,200 (GRCm39) |
H129Y |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,622,479 (GRCm39) |
N415Y |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,583 (GRCm39) |
S429R |
probably benign |
Het |
| Hnf4g |
C |
T |
3: 3,722,186 (GRCm39) |
Q447* |
probably null |
Het |
| Htr6 |
C |
T |
4: 138,788,814 (GRCm39) |
A414T |
probably benign |
Het |
| Insig1 |
T |
C |
5: 28,280,080 (GRCm39) |
L224P |
probably damaging |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,667,792 (GRCm39) |
S458T |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,007 (GRCm39) |
S1142P |
possibly damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,996,462 (GRCm39) |
N379I |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 69,084,917 (GRCm39) |
D609E |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,572,405 (GRCm39) |
T537A |
probably benign |
Het |
| Lce1i |
A |
T |
3: 92,685,056 (GRCm39) |
V40E |
unknown |
Het |
| Mprip |
T |
A |
11: 59,649,293 (GRCm39) |
V999D |
probably benign |
Het |
| Myd88 |
G |
T |
9: 119,168,829 (GRCm39) |
T85K |
possibly damaging |
Het |
| Or1e35 |
T |
A |
11: 73,797,853 (GRCm39) |
H155L |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,458,473 (GRCm39) |
M473K |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,401,935 (GRCm39) |
S97C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,783,877 (GRCm39) |
D2026V |
probably damaging |
Het |
| Plcxd1 |
T |
C |
5: 110,250,451 (GRCm39) |
V264A |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,198,580 (GRCm39) |
S558P |
probably damaging |
Het |
| Ppm1a |
T |
A |
12: 72,837,455 (GRCm39) |
M334K |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,524 (GRCm39) |
S684P |
possibly damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,990,369 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,936 (GRCm39) |
K753E |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,271,201 (GRCm39) |
R373C |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,658,140 (GRCm39) |
L765I |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
| Setd2 |
T |
A |
9: 110,433,284 (GRCm39) |
D62E |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,769,577 (GRCm39) |
Y327N |
unknown |
Het |
| Ticam1 |
G |
A |
17: 56,578,756 (GRCm39) |
T113I |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,773,459 (GRCm39) |
I1134V |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,707,399 (GRCm39) |
Y526* |
probably null |
Het |
| Tph2 |
T |
C |
10: 114,926,614 (GRCm39) |
E384G |
probably damaging |
Het |
| Ttll11 |
A |
T |
2: 35,707,798 (GRCm39) |
I503N |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 67,665,945 (GRCm39) |
K172N |
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 |
|
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'- GAGACAATGTCAGCTGTTGC -3'
(R):5'- AAAGTGTAGTTGTCACATACGCTG -3'
Sequencing Primer
(F):5'- GCTGTTGCTAAATGAGAAAGTCTAC -3'
(R):5'- GTAGTTGTCACATACGCTGAACTTTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation