Incidental Mutation 'R2057:Mdh1b'
ID 228229
Institutional Source Beutler Lab
Gene Symbol Mdh1b
Ensembl Gene ENSMUSG00000025963
Gene Name malate dehydrogenase 1B, NAD (soluble)
Synonyms 1700124B08Rik
MMRRC Submission 040062-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2057 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 63737978-63769477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63760741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 107 (I107V)
Ref Sequence ENSEMBL: ENSMUSP00000109728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114094]
AlphaFold Q5F204
Predicted Effect probably benign
Transcript: ENSMUST00000114094
AA Change: I107V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
AA Change: I107V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,806,477 (GRCm39) K764E probably damaging Het
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apob A T 12: 8,052,164 (GRCm39) R1202* probably null Het
Arfgap3 G T 15: 83,194,501 (GRCm39) D389E probably benign Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atoh8 T C 6: 72,212,112 (GRCm39) K13E probably damaging Het
Bicral G T 17: 47,135,814 (GRCm39) N465K possibly damaging Het
Bves T A 10: 45,219,231 (GRCm39) Y110N probably damaging Het
C4b A G 17: 34,947,594 (GRCm39) Y1695H probably damaging Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Caskin1 G T 17: 24,715,433 (GRCm39) G93V probably damaging Het
Cd34 T C 1: 194,641,450 (GRCm39) V292A probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdh16 C A 8: 105,348,597 (GRCm39) G144* probably null Het
Chaf1b T A 16: 93,691,795 (GRCm39) H280Q probably damaging Het
Chpf2 G A 5: 24,796,220 (GRCm39) G389R probably damaging Het
Crb1 T C 1: 139,242,488 (GRCm39) Y330C probably damaging Het
Cux2 A T 5: 122,007,567 (GRCm39) V698E probably benign Het
Dhtkd1 A G 2: 5,947,430 (GRCm39) V18A unknown Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Enpp1 C G 10: 24,536,090 (GRCm39) A437P probably damaging Het
Fat2 C T 11: 55,172,686 (GRCm39) V2676I possibly damaging Het
Fzd2 A G 11: 102,496,759 (GRCm39) D401G probably damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gnai3 C T 3: 108,019,812 (GRCm39) V233I probably benign Het
Golim4 T A 3: 75,802,194 (GRCm39) D366V possibly damaging Het
Grin1 T A 2: 25,206,832 (GRCm39) T110S probably damaging Het
Grin2a A G 16: 9,487,608 (GRCm39) V430A probably benign Het
Gstp3 G A 19: 4,109,282 (GRCm39) T5I probably damaging Het
Il17rb T A 14: 29,719,111 (GRCm39) M324L probably benign Het
Jmy A G 13: 93,596,211 (GRCm39) Y473H probably damaging Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Lmo7 G C 14: 102,124,614 (GRCm39) A358P probably damaging Het
Mlkl T C 8: 112,060,242 (GRCm39) Q48R probably benign Het
Myh2 G A 11: 67,079,665 (GRCm39) probably null Het
Naip1 T A 13: 100,562,081 (GRCm39) Q1028L probably damaging Het
Ncald T A 15: 37,397,423 (GRCm39) I86F possibly damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Or1p1 A G 11: 74,179,652 (GRCm39) Y60C probably damaging Het
Or9r3 A T 10: 129,947,859 (GRCm39) S267T probably benign Het
Pak1 T A 7: 97,557,004 (GRCm39) probably null Het
Parpbp T A 10: 87,960,824 (GRCm39) M221L probably benign Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Phf19 G T 2: 34,789,620 (GRCm39) R367S probably benign Het
Plcl2 A G 17: 50,975,139 (GRCm39) probably null Het
Plxnb1 A T 9: 108,938,294 (GRCm39) I1283F possibly damaging Het
Pramel6 T A 2: 87,339,059 (GRCm39) N86K possibly damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Prpf40a A T 2: 53,034,851 (GRCm39) I779K probably damaging Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptpn20 A T 14: 33,352,942 (GRCm39) E227V probably damaging Het
Rad54b C T 4: 11,606,088 (GRCm39) R499C probably benign Het
Rarg C A 15: 102,147,939 (GRCm39) A291S probably damaging Het
Rnf169 A T 7: 99,574,615 (GRCm39) L660Q probably damaging Het
Scn4a A G 11: 106,226,550 (GRCm39) V670A probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc35g2 G A 9: 100,435,329 (GRCm39) A114V probably damaging Het
Slc7a14 A T 3: 31,291,645 (GRCm39) V211E probably damaging Het
Snrpn A T 7: 59,637,204 (GRCm39) H37Q possibly damaging Het
Spock3 T A 8: 63,698,204 (GRCm39) C185* probably null Het
Tbc1d4 A G 14: 101,714,591 (GRCm39) S627P probably damaging Het
Tgoln1 T C 6: 72,592,653 (GRCm39) T276A probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tnpo2 T C 8: 85,776,742 (GRCm39) L483P probably damaging Het
Tpte T A 8: 22,808,355 (GRCm39) D163E probably benign Het
Trim36 A T 18: 46,329,229 (GRCm39) D70E probably benign Het
Umodl1 G A 17: 31,227,740 (GRCm39) probably null Het
Wdr90 T C 17: 26,074,173 (GRCm39) T691A probably benign Het
Zdhhc8 A G 16: 18,046,210 (GRCm39) S118P probably damaging Het
Zfp438 T C 18: 5,214,085 (GRCm39) E291G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K probably benign Het
Other mutations in Mdh1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Mdh1b APN 1 63,750,265 (GRCm39) splice site probably benign
IGL02314:Mdh1b APN 1 63,750,273 (GRCm39) critical splice donor site probably null
IGL02390:Mdh1b APN 1 63,760,716 (GRCm39) missense probably benign 0.27
IGL02582:Mdh1b APN 1 63,758,756 (GRCm39) missense probably benign 0.08
IGL02864:Mdh1b APN 1 63,760,762 (GRCm39) missense probably benign 0.00
IGL02887:Mdh1b APN 1 63,754,523 (GRCm39) splice site probably benign
IGL03073:Mdh1b APN 1 63,760,646 (GRCm39) critical splice donor site probably null
IGL03372:Mdh1b APN 1 63,759,154 (GRCm39) missense possibly damaging 0.64
IGL02835:Mdh1b UTSW 1 63,757,816 (GRCm39) missense probably damaging 1.00
R0015:Mdh1b UTSW 1 63,760,959 (GRCm39) splice site probably benign
R0015:Mdh1b UTSW 1 63,760,959 (GRCm39) splice site probably benign
R0255:Mdh1b UTSW 1 63,758,777 (GRCm39) missense probably damaging 1.00
R1750:Mdh1b UTSW 1 63,758,681 (GRCm39) missense probably benign
R3177:Mdh1b UTSW 1 63,750,690 (GRCm39) missense possibly damaging 0.93
R3277:Mdh1b UTSW 1 63,750,690 (GRCm39) missense possibly damaging 0.93
R3522:Mdh1b UTSW 1 63,758,927 (GRCm39) missense probably damaging 0.97
R4938:Mdh1b UTSW 1 63,750,663 (GRCm39) missense probably benign 0.00
R4967:Mdh1b UTSW 1 63,759,022 (GRCm39) missense probably damaging 1.00
R5093:Mdh1b UTSW 1 63,750,620 (GRCm39) missense probably benign 0.08
R5160:Mdh1b UTSW 1 63,764,804 (GRCm39) missense probably null 0.01
R5311:Mdh1b UTSW 1 63,759,163 (GRCm39) missense probably benign 0.00
R6345:Mdh1b UTSW 1 63,754,398 (GRCm39) missense possibly damaging 0.52
R6974:Mdh1b UTSW 1 63,760,975 (GRCm39) missense probably benign 0.00
R7073:Mdh1b UTSW 1 63,760,719 (GRCm39) missense probably damaging 1.00
R7728:Mdh1b UTSW 1 63,754,429 (GRCm39) missense probably benign 0.23
R7780:Mdh1b UTSW 1 63,759,133 (GRCm39) missense possibly damaging 0.76
R8271:Mdh1b UTSW 1 63,759,164 (GRCm39) missense possibly damaging 0.62
R8556:Mdh1b UTSW 1 63,750,141 (GRCm39) splice site probably null
R8681:Mdh1b UTSW 1 63,754,360 (GRCm39) missense probably benign
Z1176:Mdh1b UTSW 1 63,750,690 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCATAGGTATTCTTCCACCATG -3'
(R):5'- AGGTACGGGATTGCATTGC -3'

Sequencing Primer
(F):5'- TTTGACTATCCCACCTGG -3'
(R):5'- ATGTGTTCAAACATACCATTCCC -3'
Posted On 2014-09-17