Incidental Mutation 'R0015:Mdh1b'
ID64882
Institutional Source Beutler Lab
Gene Symbol Mdh1b
Ensembl Gene ENSMUSG00000025963
Gene Namemalate dehydrogenase 1B, NAD (soluble)
Synonyms1700124B08Rik
MMRRC Submission 038310-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R0015 (G1)
Quality Score126
Status Validated
Chromosome1
Chromosomal Location63698819-63730318 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 63721800 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114094]
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.1204 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 97% (71/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,186,184 R408H probably damaging Het
A130050O07Rik A G 1: 137,928,656 Y23C unknown Het
Adcy3 G A 12: 4,195,260 probably null Het
Aldh6a1 G A 12: 84,441,780 L86F probably damaging Het
Arl10 G T 13: 54,575,957 probably benign Het
Armc3 A G 2: 19,296,321 probably null Het
Astn2 T G 4: 66,266,382 probably null Het
Cacna1d G A 14: 30,114,971 T804I probably benign Het
Ccny A C 18: 9,316,682 probably benign Het
Cdh5 C T 8: 104,140,927 T612I probably benign Het
Cfap58 A G 19: 48,029,100 M800V probably benign Het
Clrn1 A T 3: 58,846,427 I171K probably damaging Het
Cnp T A 11: 100,578,908 probably null Het
Col12a1 T C 9: 79,651,385 T1933A probably damaging Het
Cwf19l2 A G 9: 3,454,666 S660G probably benign Het
Dync1i2 C A 2: 71,214,484 R13S probably damaging Het
Eps8l1 A T 7: 4,477,557 probably benign Het
Espn T C 4: 152,139,152 T188A possibly damaging Het
F2 T C 2: 91,630,607 E260G probably benign Het
Fat4 T A 3: 38,982,503 S3435T probably damaging Het
Fchsd1 A G 18: 37,962,959 C533R probably benign Het
Fstl5 G A 3: 76,322,191 V100M probably damaging Het
Gls2 T G 10: 128,209,350 L572R probably damaging Het
Gm20939 A T 17: 94,876,768 E281D probably benign Het
Gpr35 T G 1: 92,983,232 L222W probably damaging Het
Hsf5 C A 11: 87,657,335 H615N probably benign Het
Id2 C T 12: 25,095,803 D70N probably damaging Het
Ints2 T C 11: 86,249,287 T240A probably damaging Het
Kcnn3 A C 3: 89,662,773 D631A probably damaging Het
Klhdc8a A G 1: 132,303,005 T203A probably damaging Het
Lama4 C T 10: 39,075,436 T1059M possibly damaging Het
Lgals8 A G 13: 12,447,298 L226P probably damaging Het
Lifr T A 15: 7,188,186 probably null Het
Lonp1 T A 17: 56,618,406 Q462L probably benign Het
Lypd1 A G 1: 125,910,438 V48A possibly damaging Het
Mapkapk2 A G 1: 131,097,326 I67T possibly damaging Het
Mbd3l1 A T 9: 18,484,858 D93V probably benign Het
Myh7b C T 2: 155,622,286 P569L probably damaging Het
Ncapd3 C A 9: 27,051,809 A470E probably damaging Het
Ndrg2 A G 14: 51,910,445 probably benign Het
Nprl2 A T 9: 107,544,419 I209F probably damaging Het
Ntrk1 A G 3: 87,791,750 probably benign Het
Olfm2 T C 9: 20,668,741 E268G probably damaging Het
Olfr884 T A 9: 38,047,667 Y148* probably null Het
Pcf11 T A 7: 92,658,317 H881L probably benign Het
Pde10a A G 17: 8,977,197 D640G probably damaging Het
Pde9a G A 17: 31,386,356 probably null Het
Pianp G T 6: 125,001,540 G236V probably damaging Het
Polr2g A G 19: 8,793,652 I160T probably damaging Het
Ppp1r3a A G 6: 14,717,661 S1085P possibly damaging Het
Pter G A 2: 13,001,000 G328D probably damaging Het
Rad51 T A 2: 119,116,327 M5K probably benign Het
Rbm43 T A 2: 51,925,667 I181F probably benign Het
Rgs12 T C 5: 35,022,776 probably benign Het
Rnf213 A C 11: 119,441,606 D2547A possibly damaging Het
Slc20a2 C A 8: 22,535,345 A21E probably damaging Het
Stab2 A G 10: 86,843,617 S2503P probably benign Het
Sv2b A T 7: 75,125,641 F479L probably damaging Het
Sybu T C 15: 44,673,500 R349G probably damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tnrc6c T A 11: 117,721,458 N307K probably damaging Het
Ubxn11 C G 4: 134,116,025 probably null Het
Ust T C 10: 8,330,065 probably benign Het
Vmn2r116 T A 17: 23,401,849 N852K probably benign Het
Zgrf1 T C 3: 127,555,397 probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCGTCATGTTGGAAGTGACACCATAG -3'
(R):5'- ACAAGATTGAACTGAGTTCTTGGGCAG -3'

Sequencing Primer
(F):5'- TTGGAAGTGACACCATAGTAAAGC -3'
(R):5'- TGAGTTCTTGGGCAGATTTAATAATG -3'
Posted On2013-08-06