Incidental Mutation 'R5651:Mmut'
ID |
441449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmut
|
Ensembl Gene |
ENSMUSG00000023921 |
Gene Name |
methylmalonyl-Coenzyme A mutase |
Synonyms |
D230010K02Rik, Mut |
MMRRC Submission |
043297-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5651 (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 41258002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 389
(D389E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169611]
|
AlphaFold |
P16332 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169611
AA Change: D389E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130941 Gene: ENSMUSG00000023921 AA Change: D389E
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
G |
A |
11: 48,910,700 (GRCm39) |
H578Y |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,909,289 (GRCm39) |
D1161G |
probably damaging |
Het |
Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
AY358078 |
T |
A |
14: 52,059,617 (GRCm39) |
V318D |
unknown |
Het |
B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
Boc |
T |
A |
16: 44,341,558 (GRCm39) |
I16F |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,577,537 (GRCm39) |
T191S |
probably benign |
Het |
Cald1 |
T |
A |
6: 34,739,255 (GRCm39) |
N419K |
probably damaging |
Het |
Cecr2 |
G |
A |
6: 120,732,521 (GRCm39) |
G471D |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,255,364 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
T |
A |
19: 39,449,156 (GRCm39) |
T66S |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,323,136 (GRCm39) |
D83E |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,257 (GRCm39) |
M474L |
possibly damaging |
Het |
Hhla1 |
T |
A |
15: 65,813,663 (GRCm39) |
E223V |
probably damaging |
Het |
Hnrnpa1 |
G |
C |
15: 103,148,955 (GRCm39) |
E5D |
possibly damaging |
Het |
Htr2a |
T |
A |
14: 74,943,143 (GRCm39) |
V241E |
probably damaging |
Het |
Ier5 |
T |
C |
1: 154,974,491 (GRCm39) |
E229G |
possibly damaging |
Het |
Inka2 |
C |
A |
3: 105,623,748 (GRCm39) |
Q22K |
probably damaging |
Het |
Krt87 |
A |
T |
15: 101,331,910 (GRCm39) |
M276K |
possibly damaging |
Het |
Mast1 |
G |
C |
8: 85,655,597 (GRCm39) |
Y182* |
probably null |
Het |
Mia3 |
T |
A |
1: 183,139,998 (GRCm39) |
D239V |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,355,016 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
G |
14: 103,520,101 (GRCm39) |
C739R |
probably null |
Het |
Or13e8 |
C |
G |
4: 43,696,636 (GRCm39) |
C179S |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
Or8k21 |
A |
G |
2: 86,144,784 (GRCm39) |
I282T |
probably benign |
Het |
Or9e1 |
A |
T |
11: 58,732,317 (GRCm39) |
R126* |
probably null |
Het |
Palld |
A |
T |
8: 61,991,822 (GRCm39) |
I510N |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,074,589 (GRCm39) |
E381G |
probably damaging |
Het |
Phldb1 |
G |
A |
9: 44,623,200 (GRCm39) |
T618I |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,810,361 (GRCm39) |
E3631G |
possibly damaging |
Het |
Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
Plk4 |
A |
G |
3: 40,767,940 (GRCm39) |
T828A |
probably benign |
Het |
Psmb5 |
C |
T |
14: 54,854,221 (GRCm39) |
A86T |
possibly damaging |
Het |
Rasal2 |
A |
G |
1: 156,984,951 (GRCm39) |
V907A |
probably damaging |
Het |
Rxra |
C |
T |
2: 27,627,353 (GRCm39) |
T24M |
probably benign |
Het |
Senp1 |
A |
G |
15: 97,974,498 (GRCm39) |
S105P |
probably benign |
Het |
Sh3rf1 |
A |
G |
8: 61,816,201 (GRCm39) |
D486G |
probably damaging |
Het |
Slc49a4 |
G |
A |
16: 35,555,986 (GRCm39) |
A158V |
probably benign |
Het |
Slfn5 |
A |
C |
11: 82,851,490 (GRCm39) |
N596H |
probably benign |
Het |
Tanc2 |
T |
A |
11: 105,689,526 (GRCm39) |
D229E |
probably benign |
Het |
Taok2 |
T |
C |
7: 126,479,455 (GRCm39) |
K57E |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,343,212 (GRCm39) |
C1135Y |
probably damaging |
Het |
V1ra8 |
T |
C |
6: 90,180,508 (GRCm39) |
L237P |
probably benign |
Het |
Vcpip1 |
G |
A |
1: 9,818,065 (GRCm39) |
T106M |
probably damaging |
Het |
Vmn1r215 |
T |
G |
13: 23,259,981 (GRCm39) |
I7S |
possibly damaging |
Het |
Vmn1r233 |
T |
A |
17: 21,214,279 (GRCm39) |
M224L |
probably benign |
Het |
Xpot |
A |
T |
10: 121,440,454 (GRCm39) |
D592E |
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 |
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 |
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'- GATGTCTGATGTTCAATCCACCCC -3'
(R):5'- GTTATAAGGAGGAGAATCTGACCTTC -3'
Sequencing Primer
(F):5'- CCCCAAAGTGCTTTCGAAATTGG -3'
(R):5'- CAGAGCAGCCTCATAAACGTCATTTG -3'
|
Posted On |
2016-11-08 |