Incidental Mutation 'IGL02390:Mdh1b'
ID294224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdh1b
Ensembl Gene ENSMUSG00000025963
Gene Namemalate dehydrogenase 1B, NAD (soluble)
Synonyms1700124B08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02390
Quality Score
Status
Chromosome1
Chromosomal Location63698819-63730318 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 63721557 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 115 (H115L)
Ref Sequence ENSEMBL: ENSMUSP00000109728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114094]
Predicted Effect probably benign
Transcript: ENSMUST00000114094
AA Change: H115L

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: H115L

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
SCOP:d1b8pa1 131 282 1e-16 SMART
PDB:5MDH|B 131 457 3e-32 PDB
SCOP:d7mdha2 290 454 7e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik T C 7: 34,248,218 D455G probably damaging Het
Abca5 T C 11: 110,296,551 K894R probably benign Het
Ampd1 C T 3: 103,079,041 A12V probably benign Het
Ano4 T A 10: 89,024,981 D345V possibly damaging Het
Arl6 A G 16: 59,621,217 probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrn C T 2: 131,020,977 P1326S possibly damaging Het
Btbd9 A G 17: 30,524,814 V238A probably benign Het
Cdh16 T C 8: 104,621,974 T141A probably damaging Het
Cetn4 T C 3: 37,309,156 D102G probably damaging Het
Col5a3 T A 9: 20,776,996 N1256I unknown Het
Cyfip2 A G 11: 46,221,398 F993L possibly damaging Het
Dcaf6 T A 1: 165,422,921 I125F possibly damaging Het
Dclk2 A C 3: 86,824,683 S336A probably damaging Het
Dnah8 G A 17: 30,830,845 V4327I probably benign Het
Ebna1bp2 T C 4: 118,621,497 V59A possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
F2 A T 2: 91,632,987 V184D possibly damaging Het
Fbxo38 C T 18: 62,533,589 R171H probably damaging Het
Fhod3 A C 18: 25,066,275 S668R probably benign Het
Fkbp10 T A 11: 100,416,017 F78L probably damaging Het
Gm13083 T A 4: 143,615,325 M108K probably benign Het
Hyi C T 4: 118,362,613 R254C probably benign Het
Igfl3 A T 7: 18,181,734 probably benign Het
Lgals9 T A 11: 78,963,535 I308F probably damaging Het
Lrrc8a C A 2: 30,256,701 P509Q probably damaging Het
Mapkap1 T A 2: 34,432,089 N6K probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mrpl15 T C 1: 4,785,614 S22G probably benign Het
Nf1 T A 11: 79,411,676 probably benign Het
Nf1 T C 11: 79,565,935 Y616H possibly damaging Het
Olfr107 A T 17: 37,406,095 L182F probably benign Het
Olfr1312 A T 2: 112,042,711 V107E possibly damaging Het
Olfr270 T A 4: 52,971,263 I214N probably damaging Het
Olig1 C A 16: 91,270,153 Q93K probably damaging Het
Otoa C A 7: 121,131,367 L597M possibly damaging Het
Parp16 C T 9: 65,233,769 P207L possibly damaging Het
Pbrm1 T A 14: 31,032,510 D162E probably benign Het
Prdm10 A G 9: 31,353,389 I658V possibly damaging Het
Psg21 A T 7: 18,652,631 H143Q probably benign Het
Rfx4 C T 10: 84,840,150 R28W probably damaging Het
Sart1 T G 19: 5,380,461 M753L possibly damaging Het
Smcr8 T A 11: 60,779,722 D565E probably benign Het
Smyd4 T A 11: 75,387,506 probably null Het
Sned1 T C 1: 93,261,664 V274A probably benign Het
Tbc1d13 T C 2: 30,137,387 probably benign Het
Tox A T 4: 6,697,534 I423N possibly damaging Het
Tsc2 A T 17: 24,600,453 V1232D probably damaging Het
Uckl1 C T 2: 181,574,419 V178I possibly damaging Het
Usp13 T A 3: 32,931,716 Y175* probably null Het
Vwde A G 6: 13,190,685 V469A probably damaging Het
Other mutations in Mdh1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Mdh1b APN 1 63711106 splice site probably benign
IGL02314:Mdh1b APN 1 63711114 critical splice donor site probably null
IGL02582:Mdh1b APN 1 63719597 missense probably benign 0.08
IGL02864:Mdh1b APN 1 63721603 missense probably benign 0.00
IGL02887:Mdh1b APN 1 63715364 splice site probably benign
IGL03073:Mdh1b APN 1 63721487 critical splice donor site probably null
IGL03372:Mdh1b APN 1 63719995 missense possibly damaging 0.64
IGL02835:Mdh1b UTSW 1 63718657 missense probably damaging 1.00
R0015:Mdh1b UTSW 1 63721800 splice site probably benign
R0015:Mdh1b UTSW 1 63721800 splice site probably benign
R0255:Mdh1b UTSW 1 63719618 missense probably damaging 1.00
R1750:Mdh1b UTSW 1 63719522 missense probably benign
R2057:Mdh1b UTSW 1 63721582 missense probably benign 0.11
R3177:Mdh1b UTSW 1 63711531 missense possibly damaging 0.93
R3277:Mdh1b UTSW 1 63711531 missense possibly damaging 0.93
R3522:Mdh1b UTSW 1 63719768 missense probably damaging 0.97
R4938:Mdh1b UTSW 1 63711504 missense probably benign 0.00
R4967:Mdh1b UTSW 1 63719863 missense probably damaging 1.00
R5093:Mdh1b UTSW 1 63711461 missense probably benign 0.08
R5160:Mdh1b UTSW 1 63725645 missense probably null 0.01
R5311:Mdh1b UTSW 1 63720004 missense probably benign 0.00
R6345:Mdh1b UTSW 1 63715239 missense possibly damaging 0.52
R6974:Mdh1b UTSW 1 63721816 missense probably benign 0.00
R7073:Mdh1b UTSW 1 63721560 missense probably damaging 1.00
R7728:Mdh1b UTSW 1 63715270 missense probably benign 0.23
R7780:Mdh1b UTSW 1 63719974 missense possibly damaging 0.76
Z1176:Mdh1b UTSW 1 63711531 missense probably benign 0.00
Posted On2015-04-16