Incidental Mutation 'R0928:Mmut'
ID |
80697 |
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 # |
R0928 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
41245576-41272879 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41248174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 67
(I67T)
|
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: I67T
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130941 Gene: ENSMUSG00000023921 AA Change: I67T
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: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,388,333 (GRCm39) |
D179V |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,207,849 (GRCm39) |
|
probably null |
Het |
Adad1 |
G |
A |
3: 37,130,889 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
C |
1: 152,632,028 (GRCm39) |
Y19H |
probably damaging |
Het |
Bco2 |
T |
A |
9: 50,457,231 (GRCm39) |
T104S |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
Ccdc168 |
C |
A |
1: 44,096,388 (GRCm39) |
S1570I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,875,988 (GRCm39) |
E184G |
probably damaging |
Het |
Cfap70 |
T |
G |
14: 20,493,987 (GRCm39) |
K97N |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,663,663 (GRCm39) |
D745G |
possibly damaging |
Het |
Daam2 |
T |
C |
17: 49,795,255 (GRCm39) |
I313V |
probably benign |
Het |
Dach1 |
T |
C |
14: 98,153,268 (GRCm39) |
S467G |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,297 (GRCm39) |
S2122P |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,629,274 (GRCm39) |
D1427V |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,602,566 (GRCm39) |
F97L |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,306 (GRCm39) |
|
probably null |
Het |
En2 |
A |
T |
5: 28,375,329 (GRCm39) |
K291* |
probably null |
Het |
Eps15 |
T |
C |
4: 109,170,160 (GRCm39) |
V154A |
possibly damaging |
Het |
Etnk1 |
A |
G |
6: 143,130,429 (GRCm39) |
I183V |
probably benign |
Het |
Fcrlb |
A |
T |
1: 170,735,509 (GRCm39) |
V255D |
possibly damaging |
Het |
Fry |
A |
T |
5: 150,360,549 (GRCm39) |
E52V |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,947,671 (GRCm39) |
|
probably null |
Het |
Gm57858 |
A |
C |
3: 36,079,515 (GRCm39) |
N258K |
possibly damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,981,777 (GRCm39) |
Y152C |
probably damaging |
Het |
Hao1 |
C |
A |
2: 134,347,536 (GRCm39) |
L256F |
possibly damaging |
Het |
Helz |
T |
A |
11: 107,517,519 (GRCm39) |
I685K |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Izumo2 |
A |
T |
7: 44,364,847 (GRCm39) |
I171F |
possibly damaging |
Het |
Krt87 |
C |
A |
15: 101,389,161 (GRCm39) |
C57F |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,845,849 (GRCm39) |
H400R |
probably benign |
Het |
Megf6 |
T |
A |
4: 154,261,504 (GRCm39) |
V43E |
probably damaging |
Het |
Ninl |
A |
T |
2: 150,805,395 (GRCm39) |
V396E |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,921,467 (GRCm39) |
V844E |
probably benign |
Het |
Or2b6 |
C |
T |
13: 21,823,126 (GRCm39) |
C189Y |
probably damaging |
Het |
P2rx3 |
A |
T |
2: 84,865,642 (GRCm39) |
M1K |
probably null |
Het |
Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
Ppp3r2 |
C |
A |
4: 49,681,439 (GRCm39) |
|
probably null |
Het |
Prmt6 |
C |
T |
3: 110,157,998 (GRCm39) |
G97D |
probably damaging |
Het |
Prmt9 |
T |
C |
8: 78,307,805 (GRCm39) |
V823A |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,261,711 (GRCm39) |
L142W |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,798 (GRCm39) |
D79E |
possibly damaging |
Het |
Slc17a8 |
T |
A |
10: 89,434,545 (GRCm39) |
H194L |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,032,573 (GRCm39) |
I293F |
possibly damaging |
Het |
Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,873,914 (GRCm39) |
D528G |
probably damaging |
Het |
Tpbpb |
C |
T |
13: 61,049,989 (GRCm39) |
V47I |
probably benign |
Het |
Ttn |
G |
T |
2: 76,737,876 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
G |
9: 48,942,191 (GRCm39) |
S341A |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,639,303 (GRCm39) |
Y345H |
probably damaging |
Het |
Wdr11 |
C |
A |
7: 129,208,377 (GRCm39) |
D377E |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,991,775 (GRCm39) |
|
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 |
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 |
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'- GCAGCTAAACATTCCATCAGCTTCCAG -3'
(R):5'- AGCATCCACTTGTTTCACAGCAAATTC -3'
Sequencing Primer
(F):5'- TCAGCTTCCAGATGGAAACG -3'
(R):5'- CTCATGTCATCATAAGCATCATGTC -3'
|
Posted On |
2013-11-07 |