Incidental Mutation 'R5665:Ahi1'
ID |
444353 |
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 |
043308-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R5665 (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 20930946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 929
(I929V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000163505]
[ENSMUST00000213104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105525
AA Change: I929V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: I929V
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 benign
Transcript: ENSMUST00000163505
AA Change: I24V
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127043 Gene: ENSMUSG00000019986 AA Change: I24V
Domain | Start | End | E-Value | Type |
SH3
|
1 |
56 |
2.36e-18 |
SMART |
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213104
AA Change: I929V
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213852
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214893
|
Meta Mutation Damage Score |
0.1331 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Acaca |
G |
T |
11: 84,136,120 (GRCm39) |
E492* |
probably null |
Het |
Acp7 |
T |
A |
7: 28,315,968 (GRCm39) |
K206M |
probably benign |
Het |
Agbl1 |
T |
A |
7: 76,239,251 (GRCm39) |
F584I |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arhgef40 |
A |
G |
14: 52,238,357 (GRCm39) |
I1279V |
possibly damaging |
Het |
Arl14 |
A |
C |
3: 69,130,371 (GRCm39) |
T173P |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,184,302 (GRCm39) |
S44P |
probably damaging |
Het |
Btbd7 |
C |
A |
12: 102,751,456 (GRCm39) |
A1103S |
probably benign |
Het |
Capn10 |
T |
A |
1: 92,865,653 (GRCm39) |
|
probably null |
Het |
Capn7 |
T |
C |
14: 31,091,759 (GRCm39) |
F719L |
probably benign |
Het |
Casp7 |
G |
A |
19: 56,429,414 (GRCm39) |
D267N |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,643,356 (GRCm39) |
K348N |
probably damaging |
Het |
Chchd1 |
T |
C |
14: 20,753,178 (GRCm39) |
F13L |
probably benign |
Het |
Clcn6 |
T |
A |
4: 148,099,018 (GRCm39) |
M442L |
possibly damaging |
Het |
Col6a3 |
T |
C |
1: 90,755,602 (GRCm39) |
E229G |
probably benign |
Het |
Cyb5r3 |
A |
G |
15: 83,038,755 (GRCm39) |
F278S |
probably damaging |
Het |
Dhx16 |
C |
T |
17: 36,201,978 (GRCm39) |
Q1002* |
probably null |
Het |
Dppa4 |
T |
C |
16: 48,111,378 (GRCm39) |
L121P |
probably benign |
Het |
Dpyd |
A |
G |
3: 118,710,741 (GRCm39) |
E383G |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
Elovl1 |
G |
T |
4: 118,288,832 (GRCm39) |
V174L |
probably damaging |
Het |
Elp3 |
T |
C |
14: 65,788,851 (GRCm39) |
K392E |
possibly damaging |
Het |
Fancd2os |
C |
A |
6: 113,574,985 (GRCm39) |
W7L |
probably damaging |
Het |
Fchsd2 |
A |
G |
7: 100,759,991 (GRCm39) |
T23A |
possibly damaging |
Het |
Gabrp |
C |
G |
11: 33,504,308 (GRCm39) |
A336P |
possibly damaging |
Het |
Gcm2 |
T |
A |
13: 41,263,387 (GRCm39) |
Y15F |
possibly damaging |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,372,717 (GRCm39) |
E3091G |
probably damaging |
Het |
Homer1 |
A |
T |
13: 93,492,610 (GRCm39) |
M184L |
probably benign |
Het |
Izumo1r |
T |
C |
9: 14,812,145 (GRCm39) |
E117G |
probably damaging |
Het |
Kcnt1 |
C |
T |
2: 25,791,921 (GRCm39) |
Q590* |
probably null |
Het |
Lama1 |
G |
T |
17: 68,077,982 (GRCm39) |
C1139F |
probably damaging |
Het |
Med29 |
C |
T |
7: 28,086,239 (GRCm39) |
A190T |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,569,600 (GRCm39) |
V220A |
probably benign |
Het |
Mxra8 |
G |
T |
4: 155,927,378 (GRCm39) |
V388L |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,051,463 (GRCm39) |
|
probably null |
Het |
Myrip |
A |
G |
9: 120,290,499 (GRCm39) |
Y706C |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,590,942 (GRCm39) |
V313A |
probably benign |
Het |
Oga |
A |
C |
19: 45,765,436 (GRCm39) |
S124A |
probably benign |
Het |
Olfm2 |
T |
G |
9: 20,579,840 (GRCm39) |
|
probably null |
Het |
Or10ag52 |
T |
A |
2: 87,044,072 (GRCm39) |
S279T |
probably benign |
Het |
Or10x4 |
T |
C |
1: 174,218,941 (GRCm39) |
F102S |
probably damaging |
Het |
Pcdh15 |
C |
T |
10: 74,462,620 (GRCm39) |
P1398L |
probably damaging |
Het |
Pdpr |
A |
G |
8: 111,841,443 (GRCm39) |
E225G |
possibly damaging |
Het |
Pigs |
C |
A |
11: 78,219,595 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,658,755 (GRCm39) |
T159S |
probably damaging |
Het |
Plk4 |
A |
G |
3: 40,768,021 (GRCm39) |
T87A |
possibly damaging |
Het |
Plxna4 |
T |
C |
6: 32,192,657 (GRCm39) |
Y768C |
probably damaging |
Het |
Prl3d3 |
T |
A |
13: 27,343,064 (GRCm39) |
|
probably null |
Het |
Pygb |
T |
C |
2: 150,662,808 (GRCm39) |
|
probably null |
Het |
Rnf114 |
T |
C |
2: 167,352,854 (GRCm39) |
I118T |
possibly damaging |
Het |
Sbno2 |
A |
G |
10: 79,894,287 (GRCm39) |
L1099P |
probably benign |
Het |
Scaper |
T |
C |
9: 55,714,916 (GRCm39) |
K791E |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,601,889 (GRCm39) |
T194A |
probably damaging |
Het |
Slc12a9 |
A |
G |
5: 137,319,665 (GRCm39) |
S617P |
possibly damaging |
Het |
Slk |
G |
A |
19: 47,624,896 (GRCm39) |
R1039H |
probably damaging |
Het |
Sntb1 |
T |
A |
15: 55,655,535 (GRCm39) |
E227V |
probably benign |
Het |
Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
Spred1 |
C |
T |
2: 116,983,486 (GRCm39) |
R16* |
probably null |
Het |
Srpk2 |
A |
G |
5: 23,723,475 (GRCm39) |
I547T |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,670,610 (GRCm39) |
Y54H |
probably damaging |
Het |
Stt3b |
A |
T |
9: 115,095,215 (GRCm39) |
L272H |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,154,991 (GRCm39) |
|
probably null |
Het |
Uso1 |
A |
T |
5: 92,346,196 (GRCm39) |
E793V |
possibly damaging |
Het |
Usp15 |
A |
T |
10: 122,966,892 (GRCm39) |
L476* |
probably null |
Het |
Vmn1r189 |
T |
C |
13: 22,286,336 (GRCm39) |
Y167C |
probably damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,330,252 (GRCm39) |
S537P |
probably damaging |
Het |
Zbtb12 |
T |
C |
17: 35,114,859 (GRCm39) |
S215P |
possibly damaging |
Het |
Zfp346 |
T |
C |
13: 55,260,915 (GRCm39) |
M81T |
probably benign |
Het |
Zfp800 |
T |
C |
6: 28,244,512 (GRCm39) |
D151G |
probably null |
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 |
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'- AGTCCTGCTTTGGTTTCAGC -3'
(R):5'- GCTCTCTGGCATACTAGTGC -3'
Sequencing Primer
(F):5'- GGTTTCAGCTGCTCTTCTGCAAG -3'
(R):5'- TGGCATACTAGTGCATCGC -3'
|
Posted On |
2016-11-09 |