Incidental Mutation 'R0033:Hibch'
| ID |
15415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hibch
|
| Ensembl Gene |
ENSMUSG00000041426 |
| Gene Name |
3-hydroxyisobutyryl-Coenzyme A hydrolase |
| Synonyms |
HIBYL-COA-H, 2610509I15Rik |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
52884197-52960145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52944610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 296
(K296R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044478]
[ENSMUST00000159352]
|
| AlphaFold |
Q8QZS1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044478
AA Change: K296R
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: K296R
| 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 null
Transcript: ENSMUST00000159352
AA Change: K296R
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: K296R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
44 |
299 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162609
|
| Meta Mutation Damage Score |
0.1323 |
| Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
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 |
|
IGL03327:Hibch
|
APN |
1 |
52,959,539 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03346:Hibch
|
APN |
1 |
52,959,539 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2012-12-17 |
Incidental Mutation