Incidental Mutation 'R0090:Idh3b'
ID 20113
Institutional Source Beutler Lab
Gene Symbol Idh3b
Ensembl Gene ENSMUSG00000027406
Gene Name isocitrate dehydrogenase 3 (NAD+) beta
Synonyms
MMRRC Submission 038377-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0090 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 130121229-130126371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 130122899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 297 (A297S)
Ref Sequence ENSEMBL: ENSMUSP00000028892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028890] [ENSMUST00000028892] [ENSMUST00000103198] [ENSMUST00000136621] [ENSMUST00000159373] [ENSMUST00000184538]
AlphaFold Q91VA7
Predicted Effect probably benign
Transcript: ENSMUST00000028890
SMART Domains Protein: ENSMUSP00000028890
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Nop 44 127 1.1e-26 PFAM
coiled coil region 131 176 N/A INTRINSIC
low complexity region 185 204 N/A INTRINSIC
low complexity region 213 228 N/A INTRINSIC
low complexity region 242 264 N/A INTRINSIC
low complexity region 280 292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028892
AA Change: A297S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: A297S

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
Iso_dh 49 375 1.43e-140 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083355
Predicted Effect probably benign
Transcript: ENSMUST00000103198
SMART Domains Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
Pfam:NOP5NT 5 70 4.3e-20 PFAM
NOSIC 167 219 1.18e-30 SMART
internal_repeat_1 257 305 4.06e-5 PROSPERO
coiled coil region 415 460 N/A INTRINSIC
low complexity region 469 488 N/A INTRINSIC
low complexity region 497 512 N/A INTRINSIC
low complexity region 526 548 N/A INTRINSIC
low complexity region 564 576 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145335
Predicted Effect probably benign
Transcript: ENSMUST00000136621
SMART Domains Protein: ENSMUSP00000124616
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
Pfam:NOP5NT 4 70 3.6e-22 PFAM
NOSIC 167 219 1.18e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143547
Predicted Effect probably benign
Transcript: ENSMUST00000149955
SMART Domains Protein: ENSMUSP00000123879
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
NOSIC 2 35 1.24e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146454
SMART Domains Protein: ENSMUSP00000125304
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
Pfam:Nop 1 152 7.8e-66 PFAM
coiled coil region 159 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150401
SMART Domains Protein: ENSMUSP00000123890
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
Pfam:Nop 26 103 3.9e-26 PFAM
coiled coil region 110 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141872
SMART Domains Protein: ENSMUSP00000125305
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
Pfam:NOP5NT 14 79 3.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159373
SMART Domains Protein: ENSMUSP00000124080
Gene: ENSMUSG00000027405

DomainStartEndE-ValueType
Pfam:Nop 10 94 6e-28 PFAM
coiled coil region 98 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162063
Predicted Effect probably benign
Transcript: ENSMUST00000184538
SMART Domains Protein: ENSMUSP00000139331
Gene: ENSMUSG00000027406

DomainStartEndE-ValueType
Pfam:Iso_dh 6 71 1.8e-15 PFAM
Meta Mutation Damage Score 0.1150 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.7%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4933427I04Rik A G 4: 123,754,775 (GRCm39) T230A possibly damaging Het
Acsm1 T C 7: 119,261,412 (GRCm39) probably benign Het
Acta1 T C 8: 124,620,396 (GRCm39) N14S probably damaging Het
Aff4 A G 11: 53,283,609 (GRCm39) T362A probably benign Het
Aggf1 A G 13: 95,501,467 (GRCm39) I305T probably benign Het
Ap4b1 A G 3: 103,727,745 (GRCm39) D325G possibly damaging Het
Ap4e1 C T 2: 126,906,905 (GRCm39) T1055I possibly damaging Het
Arhgef2 A T 3: 88,546,655 (GRCm39) Q496L probably damaging Het
Arhgef28 A G 13: 98,211,618 (GRCm39) F122L probably damaging Het
Baiap3 G A 17: 25,469,044 (GRCm39) probably benign Het
Casp8ap2 T A 4: 32,640,327 (GRCm39) H460Q probably damaging Het
Casz1 A G 4: 149,017,868 (GRCm39) T386A probably benign Het
Cd53 A T 3: 106,674,725 (GRCm39) V114E possibly damaging Het
Celsr2 A G 3: 108,300,643 (GRCm39) probably benign Het
Cfap300 T A 9: 8,027,184 (GRCm39) N118I probably benign Het
Chaf1b G T 16: 93,684,012 (GRCm39) A88S possibly damaging Het
Cldn10 A T 14: 119,111,612 (GRCm39) Y194F probably damaging Het
Clec2e A C 6: 129,072,181 (GRCm39) probably null Het
Cmpk2 A T 12: 26,528,021 (GRCm39) T413S probably benign Het
Col9a1 T A 1: 24,262,643 (GRCm39) probably null Het
Dchs1 G T 7: 105,405,139 (GRCm39) Q2468K probably benign Het
Ddx60 A G 8: 62,395,327 (GRCm39) D88G probably damaging Het
Dnah8 A G 17: 31,003,064 (GRCm39) R3588G probably benign Het
Ect2 T C 3: 27,169,625 (GRCm39) T774A probably benign Het
Ect2 C T 3: 27,192,651 (GRCm39) E431K probably null Het
Ern1 A G 11: 106,296,649 (GRCm39) V767A probably damaging Het
Fbln1 A C 15: 85,108,489 (GRCm39) E75A possibly damaging Het
Fgf5 C T 5: 98,409,846 (GRCm39) R132* probably null Het
Folh1 T C 7: 86,375,076 (GRCm39) probably benign Het
Gdf15 A T 8: 71,082,334 (GRCm39) H257Q probably damaging Het
Ghitm T C 14: 36,844,176 (GRCm39) T322A probably benign Het
Gm5709 A G 3: 59,526,192 (GRCm39) noncoding transcript Het
Hbb-y C T 7: 103,501,950 (GRCm39) probably null Het
Hmcn2 A T 2: 31,316,210 (GRCm39) D3771V probably damaging Het
Hspa12a T C 19: 58,787,941 (GRCm39) D627G probably benign Het
Idh2 T C 7: 79,747,662 (GRCm39) E286G probably damaging Het
Igsf3 A G 3: 101,342,968 (GRCm39) E535G probably damaging Het
Ilf3 T A 9: 21,306,710 (GRCm39) D314E probably damaging Het
Itgb8 A G 12: 119,166,298 (GRCm39) S78P probably benign Het
Itih5 G A 2: 10,169,495 (GRCm39) V31I probably benign Het
Kcnj2 T C 11: 110,963,853 (GRCm39) V415A probably benign Het
Kin A G 2: 10,090,584 (GRCm39) Q53R possibly damaging Het
Krt78 A T 15: 101,856,272 (GRCm39) M513K probably benign Het
Krtap4-8 A T 11: 99,671,312 (GRCm39) probably benign Het
Ltbr T C 6: 125,286,412 (GRCm39) probably benign Het
Mgat4a G A 1: 37,529,414 (GRCm39) T146I probably damaging Het
Mrps2 G C 2: 28,358,268 (GRCm39) W19C probably damaging Het
Mthfs T C 9: 89,093,344 (GRCm39) S33P probably damaging Het
Myh6 T C 14: 55,196,161 (GRCm39) D546G probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndst2 T C 14: 20,777,335 (GRCm39) T553A probably damaging Het
Nlrp12 T C 7: 3,288,664 (GRCm39) E616G probably damaging Het
Nrde2 T C 12: 100,095,545 (GRCm39) probably benign Het
Nup210l G A 3: 90,119,086 (GRCm39) V1832I probably benign Het
Or1e1c G A 11: 73,266,402 (GRCm39) V276I probably benign Het
Or4k77 A T 2: 111,199,639 (GRCm39) I221F probably damaging Het
Pcm1 A T 8: 41,709,078 (GRCm39) E9D probably damaging Het
Pear1 A T 3: 87,661,649 (GRCm39) D541E possibly damaging Het
Peg10 A G 6: 4,756,063 (GRCm39) probably benign Het
Prss1 G A 6: 41,438,166 (GRCm39) R31Q probably benign Het
Ptpn13 T C 5: 103,717,369 (GRCm39) V1837A probably damaging Het
Rasgrp3 A G 17: 75,805,456 (GRCm39) D149G probably damaging Het
Reg3d A T 6: 78,355,466 (GRCm39) H8Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Sacs T A 14: 61,442,889 (GRCm39) L1645H probably damaging Het
Slc16a5 A T 11: 115,355,751 (GRCm39) S71C probably damaging Het
Slc9a3 A G 13: 74,306,847 (GRCm39) E324G probably damaging Het
Smgc T C 15: 91,743,960 (GRCm39) V574A possibly damaging Het
Stac3 C T 10: 127,339,799 (GRCm39) probably benign Het
Supv3l1 A G 10: 62,265,485 (GRCm39) L685P probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tas2r125 G T 6: 132,887,361 (GRCm39) A250S probably benign Het
Tdrd6 C T 17: 43,939,132 (GRCm39) V639I probably benign Het
Thap12 T G 7: 98,365,100 (GRCm39) W423G probably damaging Het
Tmem245 T C 4: 56,899,410 (GRCm39) I217V probably benign Het
Trip12 T A 1: 84,709,857 (GRCm39) probably benign Het
Tshz3 T C 7: 36,468,317 (GRCm39) V102A probably benign Het
Ubap1 T C 4: 41,379,826 (GRCm39) S347P probably damaging Het
Usp10 C T 8: 120,679,935 (GRCm39) Q612* probably null Het
Vmn2r72 T C 7: 85,404,084 (GRCm39) I36V probably benign Het
Vps37a T C 8: 40,980,030 (GRCm39) I63T possibly damaging Het
Whrn C A 4: 63,350,969 (GRCm39) R9L possibly damaging Het
Xrcc1 T C 7: 24,269,642 (GRCm39) Y401H probably damaging Het
Ylpm1 GCCTAAGCAGCAACCTAAG GCCTAAG 12: 85,075,814 (GRCm39) probably benign Het
Zfhx3 G A 8: 109,676,689 (GRCm39) D2580N possibly damaging Het
Zfhx4 A G 3: 5,308,685 (GRCm39) N637S probably damaging Het
Zfp268 A T 4: 145,349,195 (GRCm39) K211* probably null Het
Zyg11a A T 4: 108,058,544 (GRCm39) probably benign Het
Other mutations in Idh3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Idh3b APN 2 130,123,817 (GRCm39) missense possibly damaging 0.87
IGL02821:Idh3b APN 2 130,126,321 (GRCm39) missense probably benign 0.00
IGL03057:Idh3b APN 2 130,126,321 (GRCm39) missense probably benign 0.00
IGL03106:Idh3b APN 2 130,126,321 (GRCm39) missense probably benign 0.00
IGL03159:Idh3b APN 2 130,126,321 (GRCm39) missense probably benign 0.00
R1191:Idh3b UTSW 2 130,123,810 (GRCm39) missense probably benign 0.43
R1443:Idh3b UTSW 2 130,125,974 (GRCm39) splice site probably null
R1634:Idh3b UTSW 2 130,123,665 (GRCm39) missense probably benign 0.39
R1644:Idh3b UTSW 2 130,123,430 (GRCm39) missense possibly damaging 0.95
R5784:Idh3b UTSW 2 130,121,591 (GRCm39) missense probably damaging 1.00
R5847:Idh3b UTSW 2 130,125,948 (GRCm39) missense probably benign 0.00
R6469:Idh3b UTSW 2 130,121,593 (GRCm39) frame shift probably null
R6473:Idh3b UTSW 2 130,121,593 (GRCm39) frame shift probably null
R6532:Idh3b UTSW 2 130,121,593 (GRCm39) frame shift probably null
R6536:Idh3b UTSW 2 130,121,593 (GRCm39) frame shift probably null
R6959:Idh3b UTSW 2 130,123,447 (GRCm39) missense probably damaging 1.00
R7019:Idh3b UTSW 2 130,122,886 (GRCm39) missense probably damaging 1.00
R7305:Idh3b UTSW 2 130,123,413 (GRCm39) missense possibly damaging 0.89
R7505:Idh3b UTSW 2 130,126,153 (GRCm39) missense probably benign
R7505:Idh3b UTSW 2 130,126,147 (GRCm39) missense probably benign
R7608:Idh3b UTSW 2 130,122,900 (GRCm39) missense probably damaging 1.00
R7887:Idh3b UTSW 2 130,123,678 (GRCm39) missense probably damaging 1.00
R8165:Idh3b UTSW 2 130,122,420 (GRCm39) missense possibly damaging 0.73
R8880:Idh3b UTSW 2 130,126,004 (GRCm39) unclassified probably benign
R9338:Idh3b UTSW 2 130,122,392 (GRCm39) missense probably damaging 0.98
R9445:Idh3b UTSW 2 130,123,572 (GRCm39) missense probably benign 0.02
Z1176:Idh3b UTSW 2 130,123,462 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGTCATTTCCAAGTGGGGCACTG -3'
(R):5'- CCCTTTGTGAGTTTCCAGAGAGCAG -3'

Sequencing Primer
(F):5'- TACAGCAGAACTACCTGAGGTC -3'
(R):5'- GTGGAAGCCAGTCCATTCATC -3'
Posted On 2013-04-11