Incidental Mutation 'R7169:Ahi1'
ID |
558135 |
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 |
045229-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R7169 (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 G
at 20930918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 919
(D919E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000163505]
[ENSMUST00000213104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105525
AA Change: D919E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: D919E
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: ENSMUST00000163505
AA Change: D14E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127043 Gene: ENSMUSG00000019986 AA Change: D14E
Domain | Start | End | E-Value | Type |
SH3
|
1 |
56 |
2.36e-18 |
SMART |
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213104
AA Change: D919E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,040,707 (GRCm39) |
V870A |
probably damaging |
Het |
Angptl6 |
T |
A |
9: 20,786,475 (GRCm39) |
R390S |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,634,755 (GRCm39) |
I873V |
possibly damaging |
Het |
BC024063 |
T |
C |
10: 81,946,293 (GRCm39) |
Y638H |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,718,403 (GRCm39) |
S751P |
probably benign |
Het |
Calhm5 |
T |
A |
10: 33,968,160 (GRCm39) |
T298S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,875,078 (GRCm39) |
A287T |
possibly damaging |
Het |
Clic3 |
G |
A |
2: 25,348,731 (GRCm39) |
R237H |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,897,387 (GRCm39) |
P562H |
possibly damaging |
Het |
Csnk2a2 |
A |
G |
8: 96,215,006 (GRCm39) |
Y24H |
|
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,409,233 (GRCm39) |
D71G |
possibly damaging |
Het |
Dennd6b |
A |
T |
15: 89,073,055 (GRCm39) |
F161I |
possibly damaging |
Het |
Dnah14 |
G |
T |
1: 181,529,930 (GRCm39) |
V2235L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,015,729 (GRCm39) |
V3636D |
probably damaging |
Het |
Dpm1 |
A |
T |
2: 168,053,343 (GRCm39) |
Y207* |
probably null |
Het |
Eml3 |
A |
G |
19: 8,910,828 (GRCm39) |
T227A |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eppk1 |
C |
A |
15: 75,990,114 (GRCm39) |
A2256S |
probably benign |
Het |
Etnppl |
A |
T |
3: 130,414,345 (GRCm39) |
N80I |
probably damaging |
Het |
Eya4 |
A |
T |
10: 23,031,845 (GRCm39) |
N236K |
probably benign |
Het |
Gm12886 |
T |
G |
4: 121,273,948 (GRCm39) |
Q89H |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,204,358 (GRCm39) |
T200A |
probably benign |
Het |
Hipk1 |
C |
T |
3: 103,651,533 (GRCm39) |
A1122T |
probably benign |
Het |
Icos |
A |
G |
1: 61,034,705 (GRCm39) |
D176G |
probably damaging |
Het |
Igkv5-43 |
T |
A |
6: 69,800,519 (GRCm39) |
Y56F |
probably damaging |
Het |
Il1r1 |
T |
C |
1: 40,332,519 (GRCm39) |
|
probably null |
Het |
Ildr2 |
G |
A |
1: 166,135,503 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
A |
9: 21,306,722 (GRCm39) |
H305Q |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,715,901 (GRCm39) |
H532R |
probably benign |
Het |
Lmbr1l |
CACTACATACTACATACTACATACTACATACTACATACTACATAC |
CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC |
15: 98,807,039 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
ACTACAT |
ACTACATGCTACAT |
15: 98,807,075 (GRCm39) |
|
probably benign |
Het |
Lratd1 |
A |
G |
12: 14,200,619 (GRCm39) |
F36S |
probably damaging |
Het |
Lrrc25 |
T |
G |
8: 71,070,437 (GRCm39) |
S73A |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,544,565 (GRCm39) |
L121P |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,916,495 (GRCm39) |
V116L |
probably benign |
Het |
Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,836 (GRCm39) |
D1009V |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,948,524 (GRCm39) |
V4A |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,497,636 (GRCm39) |
S979P |
possibly damaging |
Het |
Ntn5 |
C |
T |
7: 45,336,198 (GRCm39) |
R210* |
probably null |
Het |
Nuak1 |
T |
C |
10: 84,210,609 (GRCm39) |
D493G |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,659,304 (GRCm39) |
D11E |
probably benign |
Het |
Or13a1 |
G |
T |
6: 116,471,025 (GRCm39) |
A152S |
probably benign |
Het |
Or4f14 |
A |
G |
2: 111,742,939 (GRCm39) |
M112T |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,943 (GRCm39) |
Y60N |
probably damaging |
Het |
Or56a41 |
T |
C |
7: 104,740,397 (GRCm39) |
I150V |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
Pkm |
A |
G |
9: 59,578,908 (GRCm39) |
D296G |
possibly damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pop5 |
T |
A |
5: 115,378,287 (GRCm39) |
V77E |
possibly damaging |
Het |
Ppp1r10 |
T |
C |
17: 36,240,365 (GRCm39) |
S552P |
probably damaging |
Het |
Rabggta |
C |
G |
14: 55,958,358 (GRCm39) |
R101P |
probably damaging |
Het |
Rorc |
A |
T |
3: 94,296,487 (GRCm39) |
E243V |
probably benign |
Het |
Setmar |
C |
A |
6: 108,042,049 (GRCm39) |
A3E |
possibly damaging |
Het |
Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
Slc12a7 |
G |
A |
13: 73,932,679 (GRCm39) |
V56M |
probably benign |
Het |
Snph |
T |
A |
2: 151,436,307 (GRCm39) |
N207I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,280,362 (GRCm39) |
V531A |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tlr3 |
A |
T |
8: 45,850,056 (GRCm39) |
M871K |
probably damaging |
Het |
Tnfrsf11a |
A |
T |
1: 105,772,421 (GRCm39) |
R569S |
possibly damaging |
Het |
Trim66 |
A |
G |
7: 109,054,328 (GRCm39) |
V1294A |
probably benign |
Het |
Vldlr |
G |
A |
19: 27,221,728 (GRCm39) |
V698I |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,663 (GRCm39) |
Q550* |
probably null |
Het |
Zdhhc5 |
A |
T |
2: 84,532,675 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
A |
8: 109,678,030 (GRCm39) |
Y3027N |
possibly damaging |
Het |
Zfp663 |
C |
T |
2: 165,194,359 (GRCm39) |
S620N |
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 |
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'- TAGCCATTTCTCAATCCCACAG -3'
(R):5'- TGGGCTCCGTTCTATCATAGTG -3'
Sequencing Primer
(F):5'- TGATCCTATTAGCAACCCCTGAG -3'
(R):5'- CCGTTCTATCATAGTGTACCAGGAAG -3'
|
Posted On |
2019-06-26 |