Incidental Mutation 'R8240:Hibch'
| ID |
640894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hibch
|
| Ensembl Gene |
ENSMUSG00000041426 |
| Gene Name |
3-hydroxyisobutyryl-Coenzyme A hydrolase |
| Synonyms |
HIBYL-COA-H, 2610509I15Rik |
| MMRRC Submission |
067671-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R8240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52884197-52960145 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 52940494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044478]
[ENSMUST00000159352]
|
| AlphaFold |
Q8QZS1 |
| Predicted Effect |
probably null
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: ENSMUST00000159352
|
| SMART Domains |
Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
44 |
299 |
1.3e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610524H06Rik |
A |
T |
5: 114,961,472 (GRCm39) |
V12E |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,741,082 (GRCm39) |
F997L |
probably benign |
Het |
| Baiap3 |
A |
T |
17: 25,464,288 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,614,650 (GRCm39) |
I446T |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,728,902 (GRCm39) |
M1T |
probably null |
Het |
| Clca4a |
T |
C |
3: 144,676,488 (GRCm39) |
Y64C |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,213,457 (GRCm39) |
Q1354L |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,660 (GRCm39) |
V171A |
probably damaging |
Het |
| Cyp3a44 |
G |
A |
5: 145,725,257 (GRCm39) |
L315F |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,874,485 (GRCm39) |
D1379V |
probably benign |
Het |
| Gstm6 |
T |
A |
3: 107,849,453 (GRCm39) |
D119V |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Il1rap |
G |
A |
16: 26,520,001 (GRCm39) |
E356K |
probably benign |
Het |
| Itm2c |
G |
T |
1: 85,822,457 (GRCm39) |
G25C |
probably benign |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mcee |
A |
G |
7: 64,061,665 (GRCm39) |
H156R |
possibly damaging |
Het |
| Myh3 |
C |
A |
11: 66,983,196 (GRCm39) |
Q908K |
probably benign |
Het |
| Ncoa7 |
A |
G |
10: 30,567,725 (GRCm39) |
S318P |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,402,487 (GRCm39) |
N1208D |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,766 (GRCm39) |
I204K |
possibly damaging |
Het |
| Or4a15 |
C |
T |
2: 89,192,896 (GRCm39) |
M292I |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,793,096 (GRCm39) |
P140S |
probably damaging |
Het |
| Plcd4 |
C |
G |
1: 74,593,660 (GRCm39) |
H262D |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,140 (GRCm39) |
V85A |
probably damaging |
Het |
| Prss27 |
G |
A |
17: 24,263,919 (GRCm39) |
V202I |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Slc43a1 |
A |
G |
2: 84,690,167 (GRCm39) |
H491R |
possibly damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,253,481 (GRCm39) |
D83G |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,580,889 (GRCm39) |
V486A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,460,436 (GRCm39) |
Q3408L |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,388 (GRCm39) |
D1854G |
probably benign |
Het |
| Tjp3 |
G |
A |
10: 81,109,641 (GRCm39) |
T854I |
probably benign |
Het |
| Tmsb10b |
A |
C |
7: 24,561,805 (GRCm39) |
I35L |
probably benign |
Het |
| Trim30a |
C |
T |
7: 104,070,663 (GRCm39) |
G250D |
probably benign |
Het |
| Ttll1 |
G |
T |
15: 83,376,783 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,246,350 (GRCm39) |
N300I |
probably damaging |
Het |
| Zfp458 |
C |
T |
13: 67,406,190 (GRCm39) |
C83Y |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,798,188 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGTAAAAGATGCTATCTCTAC -3'
(R):5'- ATGTTCTCAGCCCTGGAAAG -3'
Sequencing Primer
(F):5'- GTAAAAGATGCTATCTCTACTTCCTG -3'
(R):5'- TCAGCCCTGGAAAGGTGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation