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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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