Incidental Mutation 'IGL01666:Mmut'
| ID |
103319 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmut
|
| Ensembl Gene |
ENSMUSG00000023921 |
| Gene Name |
methylmalonyl-Coenzyme A mutase |
| Synonyms |
D230010K02Rik, Mut |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01666
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
41245576-41272879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41269702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 687
(L687P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169611]
|
| AlphaFold |
P16332 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169611
AA Change: L687P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: L687P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MM_CoA_mutase
|
60 |
572 |
3.7e-240 |
PFAM |
|
Pfam:B12-binding
|
613 |
731 |
4.7e-17 |
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 mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,126,458 (GRCm39) |
S513C |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
| Csn3 |
T |
C |
5: 88,078,016 (GRCm39) |
V174A |
unknown |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
| Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,038,463 (GRCm39) |
H400R |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
| Matcap2 |
A |
G |
9: 22,342,994 (GRCm39) |
D163G |
probably benign |
Het |
| Mrps27 |
A |
G |
13: 99,546,324 (GRCm39) |
E241G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
| Or6d15 |
T |
A |
6: 116,559,296 (GRCm39) |
I204F |
possibly damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
Het |
|
| Other mutations in Mmut |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01482:Mmut
|
APN |
17 |
41,267,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02141:Mmut
|
APN |
17 |
41,249,708 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02257:Mmut
|
APN |
17 |
41,249,625 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02538:Mmut
|
APN |
17 |
41,249,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mix
|
UTSW |
17 |
41,252,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
mongrel
|
UTSW |
17 |
41,249,622 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0115:Mmut
|
UTSW |
17 |
41,267,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0381:Mmut
|
UTSW |
17 |
41,248,149 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0603:Mmut
|
UTSW |
17 |
41,258,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0928:Mmut
|
UTSW |
17 |
41,248,174 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1292:Mmut
|
UTSW |
17 |
41,252,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Mmut
|
UTSW |
17 |
41,248,359 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Mmut
|
UTSW |
17 |
41,248,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Mmut
|
UTSW |
17 |
41,252,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Mmut
|
UTSW |
17 |
41,267,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2448:Mmut
|
UTSW |
17 |
41,269,732 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3113:Mmut
|
UTSW |
17 |
41,269,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Mmut
|
UTSW |
17 |
41,269,763 (GRCm39) |
splice site |
probably null |
|
|
R3276:Mmut
|
UTSW |
17 |
41,269,763 (GRCm39) |
splice site |
probably null |
|
|
R3894:Mmut
|
UTSW |
17 |
41,266,030 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4624:Mmut
|
UTSW |
17 |
41,257,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Mmut
|
UTSW |
17 |
41,248,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4802:Mmut
|
UTSW |
17 |
41,248,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5031:Mmut
|
UTSW |
17 |
41,249,718 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5394:Mmut
|
UTSW |
17 |
41,258,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5651:Mmut
|
UTSW |
17 |
41,258,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Mmut
|
UTSW |
17 |
41,249,622 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6274:Mmut
|
UTSW |
17 |
41,267,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7002:Mmut
|
UTSW |
17 |
41,252,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7141:Mmut
|
UTSW |
17 |
41,263,730 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7203:Mmut
|
UTSW |
17 |
41,249,564 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7868:Mmut
|
UTSW |
17 |
41,257,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Mmut
|
UTSW |
17 |
41,254,784 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8228:Mmut
|
UTSW |
17 |
41,248,219 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8904:Mmut
|
UTSW |
17 |
41,248,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Mmut
|
UTSW |
17 |
41,249,481 (GRCm39) |
missense |
probably benign |
|
|
R9182:Mmut
|
UTSW |
17 |
41,252,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF021:Mmut
|
UTSW |
17 |
41,262,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation