Incidental Mutation 'R2448:Mmut'
| ID |
248933 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2448 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
41245576-41272879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41269732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 697
(V697A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169611]
|
| AlphaFold |
P16332 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169611
AA Change: V697A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: V697A
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 82,148,956 (GRCm39) |
I330N |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,741,080 (GRCm39) |
E784G |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,324,848 (GRCm39) |
T528A |
probably damaging |
Het |
| Haus6 |
A |
T |
4: 86,507,238 (GRCm39) |
C453S |
possibly damaging |
Het |
| Matn4 |
T |
A |
2: 164,243,770 (GRCm39) |
Q24L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,351,102 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,268,878 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
A |
7: 50,506,135 (GRCm39) |
W781R |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,310,462 (GRCm39) |
R1511Q |
possibly damaging |
Het |
| Nup160 |
C |
T |
2: 90,552,401 (GRCm39) |
R1126W |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,726 (GRCm39) |
Y240C |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,262,057 (GRCm39) |
L874P |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,444,958 (GRCm39) |
E438G |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,547,415 (GRCm39) |
Y195C |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,313,958 (GRCm39) |
P70S |
possibly damaging |
Het |
| Sdsl |
T |
C |
5: 120,596,446 (GRCm39) |
K323E |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,770,462 (GRCm39) |
V666E |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
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 |
|
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 |
|
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'- AATAGGACTTGCTTCACCCTTACC -3'
(R):5'- ACTGAGCCGCCTAAGAACTC -3'
Sequencing Primer
(F):5'- TCACCCTTACCTTGTAATAACCAG -3'
(R):5'- GAACTCCAGTCTTAACCAGTGTGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation