Incidental Mutation 'R8219:Ahi1'
| ID |
636564 |
| 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 |
067659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R8219 (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 20950335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1034
(K1034E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000163505]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105525
AA Change: K1034E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: K1034E
| 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: K129E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127043
Gene: ENSMUSG00000019986
AA Change: K129E
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
56 |
2.36e-18 |
SMART |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,833,363 (GRCm39) |
S80T |
unknown |
Het |
| Acnat1 |
T |
A |
4: 49,447,748 (GRCm39) |
I278F |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,750 (GRCm39) |
Q815L |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,994,199 (GRCm39) |
Y1022N |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,933,357 (GRCm39) |
L645Q |
unknown |
Het |
| Atg9b |
A |
G |
5: 24,591,330 (GRCm39) |
L756P |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,811 (GRCm39) |
I411N |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,529,963 (GRCm39) |
C19S |
unknown |
Het |
| Borcs5 |
A |
G |
6: 134,621,313 (GRCm39) |
H27R |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,848,159 (GRCm39) |
D1091E |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,781,777 (GRCm39) |
M801L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,376,000 (GRCm39) |
M658K |
probably damaging |
Het |
| Col1a1 |
C |
T |
11: 94,834,184 (GRCm39) |
R500C |
probably damaging |
Het |
| Cul4a |
T |
A |
8: 13,196,540 (GRCm39) |
D731E |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E2f7 |
T |
A |
10: 110,595,704 (GRCm39) |
V133E |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,393,648 (GRCm39) |
E575G |
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,926,103 (GRCm39) |
V275D |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,643 (GRCm39) |
R367* |
probably null |
Het |
| Gm6902 |
G |
A |
7: 22,973,143 (GRCm39) |
A128V |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,269,654 (GRCm39) |
T786A |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,196,492 (GRCm39) |
N981D |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,456,113 (GRCm39) |
I437L |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,793,501 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
T |
C |
8: 71,305,499 (GRCm39) |
Y237C |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,998,431 (GRCm39) |
N354K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,572,417 (GRCm39) |
Y541H |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,123,073 (GRCm39) |
Y706H |
probably damaging |
Het |
| Lima1 |
G |
T |
15: 99,678,671 (GRCm39) |
T590K |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,649 (GRCm39) |
V107M |
possibly damaging |
Het |
| Mrpl3 |
T |
A |
9: 104,934,271 (GRCm39) |
N139K |
possibly damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,141,946 (GRCm39) |
D65V |
possibly damaging |
Het |
| Nudt16 |
T |
A |
9: 105,007,636 (GRCm39) |
N161I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,013,574 (GRCm39) |
S1091L |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,166,508 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b105 |
A |
C |
19: 13,080,284 (GRCm39) |
L122R |
probably damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,668 (GRCm39) |
D183A |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,386,247 (GRCm39) |
D303V |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,647,708 (GRCm39) |
F279S |
probably damaging |
Het |
| Peg3 |
G |
A |
7: 6,711,364 (GRCm39) |
T1286I |
probably benign |
Het |
| Phax |
A |
G |
18: 56,708,754 (GRCm39) |
N106S |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,705,493 (GRCm39) |
Y148H |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptprn2 |
C |
A |
12: 117,148,357 (GRCm39) |
Q706K |
probably benign |
Het |
| Rdh11 |
T |
G |
12: 79,235,880 (GRCm39) |
K23Q |
probably benign |
Het |
| Rit2 |
T |
A |
18: 31,108,547 (GRCm39) |
E146V |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,436,472 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
T |
A |
3: 108,352,378 (GRCm39) |
E24V |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,400,384 (GRCm39) |
P92Q |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,927,575 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,911 (GRCm39) |
M148V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,952,857 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,874,117 (GRCm39) |
Y119F |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,993,200 (GRCm39) |
K562R |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,851,016 (GRCm39) |
E627G |
possibly damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,677,878 (GRCm39) |
L297P |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,978 (GRCm39) |
H293R |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,193,977 (GRCm39) |
K667T |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,851,699 (GRCm39) |
Q139L |
probably benign |
Het |
| Ttf2 |
T |
G |
3: 100,869,879 (GRCm39) |
K398T |
possibly damaging |
Het |
| Xpa |
A |
T |
4: 46,183,150 (GRCm39) |
M213K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,163,316 (GRCm39) |
S623T |
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 |
|
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 |
|
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'- GTCCAGTGGTTTCCTCAGAC -3'
(R):5'- TACCAACACTTCCTGCAGGC -3'
Sequencing Primer
(F):5'- AGTGGTTTCCTCAGACCCTCC -3'
(R):5'- GCAGGCCACTAATAGCTTCTTGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation