Incidental Mutation 'IGL03327:Hibch'
| ID |
416708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hibch
|
| Ensembl Gene |
ENSMUSG00000041426 |
| Gene Name |
3-hydroxyisobutyryl-Coenzyme A hydrolase |
| Synonyms |
HIBYL-COA-H, 2610509I15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
IGL03327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
52884197-52960145 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 52959539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044478]
[ENSMUST00000050567]
[ENSMUST00000114492]
[ENSMUST00000114493]
[ENSMUST00000159352]
[ENSMUST00000186266]
[ENSMUST00000190726]
[ENSMUST00000191441]
[ENSMUST00000190831]
|
| AlphaFold |
Q8QZS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044478
|
| SMART Domains |
Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
43 |
282 |
6.6e-34 |
PFAM |
|
Pfam:ECH_2
|
45 |
375 |
3.9e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050567
|
| SMART Domains |
Protein: ENSMUSP00000055413
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4565
|
1 |
101 |
1.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114492
|
| SMART Domains |
Protein: ENSMUSP00000110136
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4565
|
1 |
101 |
1.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114493
|
| SMART Domains |
Protein: ENSMUSP00000110137
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SmAKAP
|
1 |
100 |
2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159352
|
| SMART Domains |
Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
44 |
299 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186266
|
| SMART Domains |
Protein: ENSMUSP00000140273
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4565
|
1 |
101 |
1.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190726
|
| SMART Domains |
Protein: ENSMUSP00000140530
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4565
|
1 |
101 |
1.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191441
|
| SMART Domains |
Protein: ENSMUSP00000139750
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4565
|
1 |
101 |
1.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190831
|
| SMART Domains |
Protein: ENSMUSP00000140160
Gene: ENSMUSG00000043629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4565
|
1 |
101 |
1.1e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,792,116 (GRCm39) |
Y280C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,854 (GRCm39) |
T1647A |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,527,523 (GRCm39) |
I562V |
possibly damaging |
Het |
| Ash1l |
C |
T |
3: 88,930,390 (GRCm39) |
P1956S |
probably benign |
Het |
| Ccdc9b |
T |
C |
2: 118,592,151 (GRCm39) |
N79S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,712,849 (GRCm39) |
|
probably null |
Het |
| Chd3 |
G |
T |
11: 69,241,012 (GRCm39) |
A1527E |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,035,582 (GRCm39) |
Q44* |
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,644,433 (GRCm39) |
D1285G |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,735,823 (GRCm39) |
S924P |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,772 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
C |
8: 45,403,505 (GRCm39) |
K85N |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,425,388 (GRCm39) |
E69G |
probably damaging |
Het |
| Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
| Galc |
A |
G |
12: 98,173,735 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Hmmr |
A |
G |
11: 40,606,242 (GRCm39) |
C243R |
probably damaging |
Het |
| Il25 |
T |
C |
14: 55,172,817 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Kifc3 |
C |
T |
8: 95,835,060 (GRCm39) |
D242N |
probably damaging |
Het |
| Lig1 |
T |
G |
7: 13,037,781 (GRCm39) |
I677S |
probably damaging |
Het |
| Lrig1 |
G |
T |
6: 94,583,104 (GRCm39) |
A1004E |
probably benign |
Het |
| Nras |
A |
G |
3: 102,966,340 (GRCm39) |
T35A |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,861 (GRCm39) |
Q136* |
probably null |
Het |
| Or4f54 |
A |
T |
2: 111,122,807 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or6c217 |
T |
G |
10: 129,738,451 (GRCm39) |
I43L |
possibly damaging |
Het |
| Or8k1 |
C |
T |
2: 86,047,618 (GRCm39) |
W145* |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Plpp2 |
T |
C |
10: 79,366,818 (GRCm39) |
|
probably null |
Het |
| Ptpre |
G |
A |
7: 135,274,551 (GRCm39) |
|
probably null |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,885 (GRCm39) |
Y244* |
probably null |
Het |
| Trip11 |
A |
T |
12: 101,849,677 (GRCm39) |
N1462K |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,028,694 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
C |
17: 74,223,787 (GRCm39) |
E535G |
probably benign |
Het |
|
| Other mutations in Hibch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Hibch
|
APN |
1 |
52,924,349 (GRCm39) |
splice site |
probably benign |
|
|
IGL00722:Hibch
|
APN |
1 |
52,940,479 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03130:Hibch
|
APN |
1 |
52,924,310 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03346:Hibch
|
APN |
1 |
52,959,539 (GRCm39) |
unclassified |
probably benign |
|
|
R0033:Hibch
|
UTSW |
1 |
52,944,610 (GRCm39) |
missense |
probably null |
0.60 |
|
R0033:Hibch
|
UTSW |
1 |
52,944,610 (GRCm39) |
missense |
probably null |
0.60 |
|
R0494:Hibch
|
UTSW |
1 |
52,942,055 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1853:Hibch
|
UTSW |
1 |
52,940,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4838:Hibch
|
UTSW |
1 |
52,924,337 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5239:Hibch
|
UTSW |
1 |
52,904,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Hibch
|
UTSW |
1 |
52,884,228 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5583:Hibch
|
UTSW |
1 |
52,940,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Hibch
|
UTSW |
1 |
52,892,859 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6246:Hibch
|
UTSW |
1 |
52,943,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6365:Hibch
|
UTSW |
1 |
52,908,096 (GRCm39) |
splice site |
probably null |
|
|
R7202:Hibch
|
UTSW |
1 |
52,892,874 (GRCm39) |
splice site |
probably null |
|
|
R8023:Hibch
|
UTSW |
1 |
52,899,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8240:Hibch
|
UTSW |
1 |
52,940,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9028:Hibch
|
UTSW |
1 |
52,892,868 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9293:Hibch
|
UTSW |
1 |
52,952,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Hibch
|
UTSW |
1 |
52,952,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation