Incidental Mutation 'IGL01357:Mmaa'
ID75577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmaa
Ensembl Gene ENSMUSG00000037022
Gene Namemethylmalonic aciduria (cobalamin deficiency) type A
Synonyms2810018E08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL01357
Quality Score
Status
Chromosome8
Chromosomal Location79263598-79294937 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 79267971 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 402 (R402L)
Ref Sequence ENSEMBL: ENSMUSP00000048826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048718] [ENSMUST00000210231]
Predicted Effect probably benign
Transcript: ENSMUST00000048718
AA Change: R402L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048826
Gene: ENSMUSG00000037022
AA Change: R402L

DomainStartEndE-ValueType
low complexity region 113 133 N/A INTRINSIC
AAA 139 307 5.81e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210231
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 124,639,333 V224F probably damaging Het
Abca4 T A 3: 122,103,583 M637K probably damaging Het
Abca8a A G 11: 110,031,572 V1395A probably benign Het
Adam20 A C 8: 40,796,560 D569A probably benign Het
Axl A G 7: 25,774,169 L344P probably benign Het
B3gat1 T C 9: 26,756,987 L291P probably damaging Het
Cdc25c A T 18: 34,734,857 probably null Het
Crat A T 2: 30,407,724 Y263N probably damaging Het
Crb2 A G 2: 37,795,511 probably benign Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah7a A T 1: 53,662,381 V205D probably benign Het
Emsy A T 7: 98,590,870 Y1011* probably null Het
Fbln5 C T 12: 101,750,887 S414N probably damaging Het
Fev T C 1: 74,882,524 E89G possibly damaging Het
Fgg A G 3: 83,014,228 E406G possibly damaging Het
Glra1 A T 11: 55,514,889 M425K possibly damaging Het
Gm8214 C T 1: 183,681,932 noncoding transcript Het
Kdm3b A G 18: 34,793,014 E69G probably damaging Het
Kntc1 T A 5: 123,757,814 V89E probably damaging Het
L3mbtl3 T A 10: 26,330,185 N361I unknown Het
Macrod2 A G 2: 142,384,330 N457S probably damaging Het
Mal C A 2: 127,640,314 M56I probably damaging Het
Mfsd5 C T 15: 102,281,447 T418M probably benign Het
Myo15 T C 11: 60,502,289 probably benign Het
Nme1 A G 11: 93,959,491 S122P possibly damaging Het
Nxt1 A G 2: 148,675,396 E19G probably damaging Het
Nynrin A T 14: 55,870,417 T994S probably benign Het
Orc2 T G 1: 58,497,392 E56D probably benign Het
Orc2 T C 1: 58,497,393 E56G probably benign Het
Pid1 G A 1: 84,038,305 T113I probably damaging Het
Plcg2 G A 8: 117,614,161 probably benign Het
Rad50 A G 11: 53,707,021 V12A probably damaging Het
Serpinb9c C T 13: 33,151,879 V197I probably benign Het
Sfxn2 A T 19: 46,585,773 N134I probably damaging Het
Spen T C 4: 141,517,113 R204G unknown Het
Strip2 A G 6: 29,939,167 probably benign Het
Tas2r135 A T 6: 42,406,144 I206L probably benign Het
Tmem243 A G 5: 9,101,348 T11A probably damaging Het
Tmprss11c A G 5: 86,231,807 V401A probably damaging Het
Trim50 T A 5: 135,363,954 I241N probably damaging Het
Ttn A C 2: 76,951,520 S1015A possibly damaging Het
Wee1 T C 7: 110,142,035 S622P probably benign Het
Other mutations in Mmaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Mmaa APN 8 79281570 missense probably damaging 0.98
IGL02321:Mmaa APN 8 79274130 missense probably damaging 1.00
R2118:Mmaa UTSW 8 79267959 nonsense probably null
R2420:Mmaa UTSW 8 79281432 missense probably damaging 1.00
R2421:Mmaa UTSW 8 79281432 missense probably damaging 1.00
R3963:Mmaa UTSW 8 79268214 missense probably damaging 1.00
Posted On2013-10-07