Incidental Mutation 'R0381:Mmut'
| ID |
30990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmut
|
| Ensembl Gene |
ENSMUSG00000023921 |
| Gene Name |
methylmalonyl-Coenzyme A mutase |
| Synonyms |
D230010K02Rik, Mut |
| MMRRC Submission |
038587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0381 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
41245576-41272879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41248149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 59
(W59R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087114]
[ENSMUST00000169611]
|
| AlphaFold |
P16332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087114
|
| SMART Domains |
Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-Q
|
118 |
268 |
7.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169611
AA Change: W59R
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: W59R
| 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 |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,757,858 (GRCm39) |
V1297A |
possibly damaging |
Het |
| Agbl2 |
C |
T |
2: 90,614,442 (GRCm39) |
H25Y |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,750,990 (GRCm39) |
W466R |
probably benign |
Het |
| Ccdc66 |
T |
A |
14: 27,213,890 (GRCm39) |
Q471L |
probably damaging |
Het |
| Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,438,597 (GRCm39) |
K334E |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,840,055 (GRCm39) |
I2063R |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,353,767 (GRCm39) |
Y371H |
probably damaging |
Het |
| Fnbp1 |
C |
T |
2: 30,923,041 (GRCm39) |
G549D |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,794,067 (GRCm39) |
Y869H |
probably benign |
Het |
| Gm7592 |
A |
G |
1: 85,454,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,479,562 (GRCm39) |
C4634Y |
probably damaging |
Het |
| Kctd5 |
A |
G |
17: 24,278,194 (GRCm39) |
|
probably null |
Het |
| Kics2 |
T |
C |
10: 121,581,280 (GRCm39) |
Y94H |
probably damaging |
Het |
| Mettl24 |
C |
A |
10: 40,622,386 (GRCm39) |
H203N |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,970,104 (GRCm39) |
E17G |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,312,720 (GRCm39) |
D881N |
probably benign |
Het |
| Mrm1 |
T |
C |
11: 84,709,509 (GRCm39) |
T183A |
possibly damaging |
Het |
| Mylk |
G |
A |
16: 34,605,344 (GRCm39) |
|
probably null |
Het |
| Nab2 |
G |
A |
10: 127,500,936 (GRCm39) |
A19V |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,709,719 (GRCm39) |
Y333* |
probably null |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Sypl2 |
T |
C |
3: 108,133,473 (GRCm39) |
E32G |
possibly damaging |
Het |
| Tasp1 |
T |
C |
2: 139,793,403 (GRCm39) |
K258E |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm4 |
G |
T |
7: 96,555,088 (GRCm39) |
V2561F |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,776,409 (GRCm39) |
Y650C |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,979,062 (GRCm39) |
L103P |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,662,600 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,193 (GRCm39) |
W136R |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,268,264 (GRCm39) |
Y68* |
probably null |
Het |
| Wscd2 |
T |
A |
5: 113,689,192 (GRCm39) |
L66Q |
probably damaging |
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 |
|
IGL01666:Mmut
|
APN |
17 |
41,269,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTATATCCGGCACACGACCAG -3'
(R):5'- AAAGCCTGCATACTGACGGATGG -3'
Sequencing Primer
(F):5'- GCTTCACCATGTTGAGAGCTAAG -3'
(R):5'- CATACTGACGGATGGTCCAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation