Incidental Mutation 'IGL02314:Mdh1b'
ID287983
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: 0.050) question?
Stock #IGL02314
Quality Score
Status
Chromosome1
Chromosomal Location63698819-63730318 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 63711114 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114094]
Predicted Effect probably null
Transcript: ENSMUST00000114094
SMART Domains Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 K94* probably null Het
Axl A G 7: 25,786,920 F120L possibly damaging Het
Baz2b A G 2: 59,962,227 V519A probably benign Het
Cdk2 A T 10: 128,703,726 I99N probably damaging Het
Ces1b C A 8: 93,064,896 W358C possibly damaging Het
Clca3b A G 3: 144,828,142 probably benign Het
Col6a4 T G 9: 105,997,156 T2211P probably damaging Het
Cyp4f14 C T 17: 32,906,291 E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 T407S possibly damaging Het
Dtx3 G A 10: 127,190,959 probably benign Het
Fat3 A T 9: 15,969,838 L3246H possibly damaging Het
Fat4 A T 3: 38,887,630 D224V probably damaging Het
Fndc9 A T 11: 46,238,295 I214F probably benign Het
Foxred1 A T 9: 35,205,968 I22N probably damaging Het
Gkn1 T C 6: 87,349,121 D29G probably benign Het
Gm13078 T C 4: 143,728,442 S437P probably benign Het
Gm2035 T A 12: 87,919,607 Y84F probably benign Het
Gng11 T A 6: 4,004,317 M1K probably null Het
Hdac7 T C 15: 97,809,004 D237G probably damaging Het
Hgf A G 5: 16,572,602 Y199C probably damaging Het
Hgfac A T 5: 35,041,597 M1L probably benign Het
Hsd17b6 T C 10: 127,997,908 T35A probably damaging Het
Htr3a G A 9: 48,904,627 P170L probably damaging Het
Ighv12-3 A G 12: 114,366,801 S25P probably damaging Het
Jph2 A T 2: 163,397,353 N58K probably damaging Het
Lama5 A G 2: 180,194,482 probably benign Het
Lpin3 T A 2: 160,898,718 Y394* probably null Het
Macf1 G T 4: 123,444,837 T2248K probably damaging Het
Map3k2 A G 18: 32,218,500 probably benign Het
Map4k5 G A 12: 69,818,439 P524S probably benign Het
Mcf2l C T 8: 13,001,851 S359L probably damaging Het
Mfhas1 G A 8: 35,588,773 R134H probably damaging Het
Mogs A G 6: 83,118,055 T618A probably benign Het
Mybpc2 T A 7: 44,522,388 Q39H possibly damaging Het
Myoc C T 1: 162,639,348 R29W probably damaging Het
Nae1 A G 8: 104,526,306 M162T probably damaging Het
Nfatc3 A G 8: 106,078,900 I126V probably benign Het
Nxnl2 C A 13: 51,171,529 F69L probably benign Het
Oca2 T A 7: 56,357,151 I662N probably benign Het
Odf3b T G 15: 89,378,169 K82N probably damaging Het
Olfr1151 A G 2: 87,858,056 N294D probably damaging Het
Olfr1356 A T 10: 78,847,265 S217T probably damaging Het
Olfr549 A T 7: 102,555,111 I276F probably damaging Het
Olfr872 A T 9: 20,260,478 I213L probably benign Het
Pcdhb14 G A 18: 37,450,195 E785K probably benign Het
Plb1 A C 5: 32,281,148 Y209S possibly damaging Het
Rab44 C A 17: 29,139,353 Q172K probably benign Het
Rnf214 A T 9: 45,899,807 V186E probably benign Het
Rps6ka1 C A 4: 133,850,754 G522W probably damaging Het
Samhd1 G T 2: 157,135,028 T21K probably damaging Het
Scly A G 1: 91,319,041 Y358C probably benign Het
Sfxn2 A G 19: 46,582,587 N29D possibly damaging Het
Shank2 A G 7: 144,411,271 D1451G probably benign Het
Slc44a5 G A 3: 154,256,519 S363N probably damaging Het
Smg1 A G 7: 118,154,709 probably benign Het
Tas1r3 A T 4: 155,860,662 C701S probably damaging Het
Tmem87a A G 2: 120,404,021 S14P possibly damaging Het
Trmt6 G A 2: 132,805,458 A486V probably benign Het
Ttn G A 2: 76,896,747 R1602* probably null Het
Ush2a A G 1: 188,633,629 M2227V probably benign Het
Vmn2r96 A T 17: 18,583,959 Q490H probably benign Het
Wdr19 G T 5: 65,257,120 A1279S probably benign Het
Zbtb7c G A 18: 76,145,866 R465H probably damaging Het
Zfp473 T C 7: 44,733,929 S326G probably benign Het
Other mutations in Mdh1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Mdh1b APN 1 63711106 splice site probably benign
IGL02390:Mdh1b APN 1 63721557 missense probably benign 0.27
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
Posted On2015-04-16