Incidental Mutation 'R6932:Ahi1'
ID |
540107 |
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 |
045047-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R6932 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20839590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 167
(D167G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000213104]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105525
AA Change: D167G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101164 Gene: ENSMUSG00000019986 AA Change: D167G
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: ENSMUST00000213104
AA Change: D167G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
98% (80/82) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acads |
A |
T |
5: 115,250,331 (GRCm39) |
F198I |
probably damaging |
Het |
Acy1 |
A |
G |
9: 106,314,826 (GRCm39) |
|
probably null |
Het |
Adk |
A |
G |
14: 21,126,376 (GRCm39) |
M1V |
probably null |
Het |
Ankrd16 |
T |
C |
2: 11,791,054 (GRCm39) |
V290A |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,251,351 (GRCm39) |
S701T |
possibly damaging |
Het |
Atp13a5 |
C |
A |
16: 29,100,769 (GRCm39) |
M673I |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,868,940 (GRCm39) |
D78G |
possibly damaging |
Het |
Bcat2 |
C |
T |
7: 45,238,745 (GRCm39) |
H347Y |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,784,547 (GRCm39) |
Y85C |
possibly damaging |
Het |
Cdc42 |
T |
A |
4: 137,049,932 (GRCm39) |
|
probably null |
Het |
Cep170 |
G |
A |
1: 176,589,003 (GRCm39) |
L541F |
possibly damaging |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Cgrrf1 |
T |
A |
14: 47,091,179 (GRCm39) |
N234K |
probably benign |
Het |
Ctrc |
C |
T |
4: 141,568,879 (GRCm39) |
C108Y |
probably damaging |
Het |
Cyp2u1 |
C |
T |
3: 131,091,945 (GRCm39) |
V192M |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,279,307 (GRCm39) |
L1013Q |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,009,733 (GRCm39) |
N1945I |
probably damaging |
Het |
Dnah10 |
C |
G |
5: 124,898,514 (GRCm39) |
N3765K |
possibly damaging |
Het |
Dnah17 |
C |
A |
11: 117,950,905 (GRCm39) |
R2906L |
possibly damaging |
Het |
Dnajc10 |
C |
T |
2: 80,161,680 (GRCm39) |
T306I |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,530,273 (GRCm39) |
C287S |
probably damaging |
Het |
Efna1 |
T |
C |
3: 89,180,091 (GRCm39) |
R143G |
probably benign |
Het |
Emilin1 |
A |
C |
5: 31,074,421 (GRCm39) |
N221H |
probably damaging |
Het |
Epg5 |
A |
G |
18: 77,991,824 (GRCm39) |
T174A |
probably benign |
Het |
Fam184b |
T |
A |
5: 45,690,243 (GRCm39) |
|
probably null |
Het |
Fchsd2 |
T |
A |
7: 100,926,621 (GRCm39) |
C570* |
probably null |
Het |
Gm4787 |
A |
T |
12: 81,425,974 (GRCm39) |
D61E |
probably benign |
Het |
Gm7356 |
C |
T |
17: 14,221,925 (GRCm39) |
G35R |
probably damaging |
Het |
Gm8220 |
A |
G |
14: 44,525,645 (GRCm39) |
T20A |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,004,245 (GRCm39) |
T281M |
probably damaging |
Het |
Ighv2-9-1 |
A |
G |
12: 113,733,692 (GRCm39) |
V43A |
probably damaging |
Het |
Klhl33 |
A |
T |
14: 51,129,373 (GRCm39) |
C619S |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,740,558 (GRCm39) |
|
probably benign |
Het |
Lax1 |
A |
G |
1: 133,607,896 (GRCm39) |
C282R |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,901,395 (GRCm39) |
K567E |
probably benign |
Het |
Luzp1 |
C |
T |
4: 136,268,124 (GRCm39) |
R116* |
probably null |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,261,833 (GRCm39) |
N38I |
probably damaging |
Het |
Map3k14 |
A |
T |
11: 103,132,958 (GRCm39) |
I80N |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,496,299 (GRCm39) |
S368P |
probably benign |
Het |
Mfge8 |
T |
C |
7: 78,793,049 (GRCm39) |
D139G |
probably benign |
Het |
Mmp19 |
A |
T |
10: 128,627,523 (GRCm39) |
I54F |
probably benign |
Het |
Myo15a |
G |
T |
11: 60,390,320 (GRCm39) |
W2114L |
probably damaging |
Het |
Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
Myoc |
A |
G |
1: 162,466,915 (GRCm39) |
D28G |
probably damaging |
Het |
Myrf |
G |
T |
19: 10,196,924 (GRCm39) |
N487K |
probably damaging |
Het |
Omd |
T |
A |
13: 49,743,710 (GRCm39) |
F253L |
probably damaging |
Het |
Or2ag19 |
G |
T |
7: 106,444,009 (GRCm39) |
G64* |
probably null |
Het |
Or5t5 |
C |
G |
2: 86,616,499 (GRCm39) |
L142V |
probably damaging |
Het |
Or6n1 |
G |
A |
1: 173,917,316 (GRCm39) |
A237T |
probably damaging |
Het |
Papss1 |
T |
G |
3: 131,305,732 (GRCm39) |
I238S |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,632,675 (GRCm39) |
F580Y |
probably benign |
Het |
Polk |
T |
A |
13: 96,653,189 (GRCm39) |
K70N |
probably damaging |
Het |
Ppig |
T |
A |
2: 69,562,755 (GRCm39) |
D31E |
probably benign |
Het |
Ppp6r1 |
G |
T |
7: 4,636,291 (GRCm39) |
S766R |
possibly damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
Reln |
T |
C |
5: 22,190,855 (GRCm39) |
I1511V |
probably benign |
Het |
Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
Rpia |
A |
G |
6: 70,750,424 (GRCm39) |
V236A |
probably benign |
Het |
Rpl10a |
G |
T |
17: 28,548,424 (GRCm39) |
V80L |
probably benign |
Het |
Sap130 |
T |
G |
18: 31,799,407 (GRCm39) |
S295A |
possibly damaging |
Het |
Sgms1 |
C |
T |
19: 32,120,193 (GRCm39) |
V238I |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,864,778 (GRCm39) |
S470P |
probably benign |
Het |
Slc25a32 |
A |
G |
15: 38,960,984 (GRCm39) |
V233A |
possibly damaging |
Het |
Slc2a2 |
T |
C |
3: 28,771,668 (GRCm39) |
S158P |
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,722,653 (GRCm39) |
Y550C |
probably benign |
Het |
Slc7a9 |
C |
A |
7: 35,151,936 (GRCm39) |
T77K |
probably benign |
Het |
Snd1 |
A |
T |
6: 28,626,100 (GRCm39) |
D385V |
probably benign |
Het |
Ssh3 |
A |
T |
19: 4,314,448 (GRCm39) |
F369I |
probably damaging |
Het |
Syk |
A |
G |
13: 52,766,495 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
A |
G |
11: 119,099,742 (GRCm39) |
S211P |
probably damaging |
Het |
Ttc3 |
A |
G |
16: 94,244,312 (GRCm39) |
T1439A |
probably benign |
Het |
Usp18 |
A |
G |
6: 121,229,473 (GRCm39) |
M31V |
probably benign |
Het |
Vav1 |
G |
T |
17: 57,609,330 (GRCm39) |
E415D |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,655,439 (GRCm39) |
V1863D |
probably benign |
Het |
Xdh |
T |
A |
17: 74,229,557 (GRCm39) |
I299F |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,737,336 (GRCm39) |
|
probably benign |
Het |
Zfp345 |
G |
A |
2: 150,315,331 (GRCm39) |
H69Y |
probably damaging |
Het |
Zfp652 |
G |
T |
11: 95,654,667 (GRCm39) |
V357L |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,188,891 (GRCm39) |
Y545* |
probably null |
Het |
Zgrf1 |
T |
C |
3: 127,353,281 (GRCm39) |
|
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 |
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 |
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'- CCACAGATTTTAGAATTGCAAGTGG -3'
(R):5'- GTTTCAACCTGAAGGCACTG -3'
Sequencing Primer
(F):5'- GTTATCTTGGTGAGTGAAAGCCAGC -3'
(R):5'- CCTGAAGGCACTGTAACTTTTAG -3'
|
Posted On |
2018-11-06 |