Incidental Mutation 'IGL00916:Ndufa13'
ID28011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa13
Ensembl Gene ENSMUSG00000036199
Gene NameNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
SynonymsCDA016, 2700054G14Rik, GRIM-19, Grim19, CGI-39
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00916
Quality Score
Status
Chromosome8
Chromosomal Location69894180-69902558 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 69894419 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110167] [ENSMUST00000152938] [ENSMUST00000180068]
Predicted Effect probably benign
Transcript: ENSMUST00000110167
SMART Domains Protein: ENSMUSP00000105796
Gene: ENSMUSG00000036199

DomainStartEndE-ValueType
Pfam:GRIM-19 5 129 9.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152938
SMART Domains Protein: ENSMUSP00000118931
Gene: ENSMUSG00000048967

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:YjeF_N 17 187 5.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180068
SMART Domains Protein: ENSMUSP00000136145
Gene: ENSMUSG00000048967

DomainStartEndE-ValueType
Pfam:YjeF_N 2 159 8.8e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality, failed gastrulation, absent organogenesis, small and abnormal inner cell mass and trophoblast, and abnormal mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Ano4 T C 10: 88,998,098 I459V probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Eapp T C 12: 54,692,808 T75A possibly damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mreg T A 1: 72,164,132 T96S probably benign Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rgs2 T A 1: 144,002,229 I78F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tfcp2 T G 15: 100,520,678 H201P probably damaging Het
Tnfaip2 T G 12: 111,453,549 I705R probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Ndufa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2169:Ndufa13 UTSW 8 69894519 missense probably damaging 1.00
R3849:Ndufa13 UTSW 8 69901610 missense probably damaging 1.00
R5026:Ndufa13 UTSW 8 69895270 nonsense probably null
R8024:Ndufa13 UTSW 8 69894537 missense not run
X0013:Ndufa13 UTSW 8 69895287 missense probably benign 0.02
Posted On2013-04-17