Incidental Mutation 'R6240:Ahi1'
| ID |
505184 |
| 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 |
044364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
R6240 (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 20852980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 516
(D516G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101164
(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: D516G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: D516G
| 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: D516G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
A |
14: 64,223,701 (GRCm39) |
R25L |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,045 (GRCm39) |
S185L |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,286,044 (GRCm39) |
D751V |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,766,544 (GRCm39) |
D405G |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,990,947 (GRCm39) |
D4077V |
probably damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,489,658 (GRCm39) |
R330Q |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,407,997 (GRCm39) |
V2170A |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,598,565 (GRCm39) |
L227F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,650,253 (GRCm39) |
I119V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,640 (GRCm39) |
S1618T |
probably benign |
Het |
| Cad |
T |
A |
5: 31,230,322 (GRCm39) |
M1512K |
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,713,226 (GRCm39) |
T172A |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,707 (GRCm39) |
N308S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,199,596 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,663,556 (GRCm39) |
S524P |
possibly damaging |
Het |
| Epha5 |
G |
C |
5: 84,265,438 (GRCm39) |
A452G |
probably benign |
Het |
| Fzd3 |
T |
C |
14: 65,447,304 (GRCm39) |
T542A |
probably damaging |
Het |
| Glyctk |
A |
T |
9: 106,033,461 (GRCm39) |
|
probably null |
Het |
| Gm10382 |
G |
A |
5: 125,466,660 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,904,281 (GRCm39) |
M127L |
probably benign |
Het |
| Hoxc10 |
T |
A |
15: 102,879,265 (GRCm39) |
W262R |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,454 (GRCm39) |
W52R |
possibly damaging |
Het |
| Jazf1 |
A |
T |
6: 52,754,537 (GRCm39) |
C180S |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 188,975,179 (GRCm39) |
W286R |
probably damaging |
Het |
| Kcnmb2 |
C |
T |
3: 32,236,045 (GRCm39) |
S98F |
probably damaging |
Het |
| Mob3a |
C |
G |
10: 80,525,698 (GRCm39) |
E204D |
possibly damaging |
Het |
| Morc3 |
C |
G |
16: 93,659,572 (GRCm39) |
H459D |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,964,126 (GRCm39) |
N876I |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,930 (GRCm39) |
T257S |
probably damaging |
Het |
| Nat1 |
A |
T |
8: 67,944,354 (GRCm39) |
R243S |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,194,955 (GRCm39) |
V17A |
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,668 (GRCm39) |
S75G |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,970 (GRCm39) |
I146T |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,707 (GRCm39) |
D82G |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,558,043 (GRCm39) |
V83A |
probably benign |
Het |
| Or6c70 |
C |
A |
10: 129,710,546 (GRCm39) |
V27L |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,704 (GRCm39) |
L753P |
probably damaging |
Het |
| Pcf11 |
T |
A |
7: 92,295,710 (GRCm39) |
E1446D |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,176 (GRCm39) |
I267V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,536,008 (GRCm39) |
Y571N |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,568 (GRCm39) |
V620E |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,570,506 (GRCm39) |
L363P |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,584,479 (GRCm39) |
T387A |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,297 (GRCm39) |
C61Y |
probably damaging |
Het |
| Rab18 |
T |
C |
18: 6,784,635 (GRCm39) |
Y109H |
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,779,027 (GRCm39) |
P358L |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,323,893 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
G |
A |
13: 50,855,453 (GRCm39) |
D364N |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,883,061 (GRCm39) |
I13T |
probably benign |
Het |
| Tcf12 |
T |
A |
9: 71,851,298 (GRCm39) |
K110* |
probably null |
Het |
| Tdrd1 |
T |
C |
19: 56,829,767 (GRCm39) |
S214P |
probably benign |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,504,216 (GRCm39) |
Y136C |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,123,179 (GRCm39) |
I448F |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,000,337 (GRCm39) |
I335M |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 181,985,186 (GRCm39) |
T160A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,899 (GRCm39) |
N227D |
possibly damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,464,226 (GRCm39) |
S203C |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,848 (GRCm39) |
T357A |
possibly damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,180 (GRCm39) |
K220E |
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 |
|
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 |
|
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'- CACAATGTGAGCAACTGAGAGTAC -3'
(R):5'- ACTGTTGTTAACCTGTCAGTGTGC -3'
Sequencing Primer
(F):5'- GCAAATGAAAAACAGTTCTTGAGTG -3'
(R):5'- CACGGTGCACAGCTATGATGTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation