Incidental Mutation 'IGL00502:Ndufb5'
ID6916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufb5
Ensembl Gene ENSMUSG00000027673
Gene NameNADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5
Synonyms0610007D05Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.702) question?
Stock #IGL00502
Quality Score
Status
Chromosome3
Chromosomal Location32736990-32751566 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32744899 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 55 (V55D)
Ref Sequence ENSEMBL: ENSMUSP00000115088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029217] [ENSMUST00000121778] [ENSMUST00000122290] [ENSMUST00000127477] [ENSMUST00000139593] [ENSMUST00000154257]
Predicted Effect silent
Transcript: ENSMUST00000029217
Predicted Effect probably damaging
Transcript: ENSMUST00000121778
AA Change: V57D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673
AA Change: V57D

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 163 5.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122290
SMART Domains Protein: ENSMUSP00000113602
Gene: ENSMUSG00000027673

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 119 1.1e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127477
AA Change: V57D

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673
AA Change: V57D

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 189 3.5e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139593
AA Change: V55D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: V55D

DomainStartEndE-ValueType
Pfam:NDUF_B5 6 172 6e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154257
AA Change: V42D

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673
AA Change: V42D

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 135 8.4e-69 PFAM
Predicted Effect silent
Transcript: ENSMUST00000156174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195565
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,403,397 I82N probably damaging Het
Ampd2 A T 3: 108,077,396 L422H probably damaging Het
Angptl2 T A 2: 33,228,394 V60E probably damaging Het
Ano3 G A 2: 110,771,050 probably benign Het
Arhgap40 A G 2: 158,531,158 D112G probably benign Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Btrc A T 19: 45,527,265 E553V probably damaging Het
Cacna1b A T 2: 24,651,200 Y1323* probably null Het
Ccdc146 A G 5: 21,301,422 C674R possibly damaging Het
Ccdc170 A G 10: 4,546,836 D458G probably damaging Het
Cfap57 T A 4: 118,581,001 M898L probably benign Het
Crybg1 C T 10: 43,958,313 V1961I probably damaging Het
Dsp T C 13: 38,197,846 S2257P probably damaging Het
Dytn A G 1: 63,678,840 V12A probably benign Het
Foxk2 A G 11: 121,297,099 probably benign Het
Gfi1b G A 2: 28,614,785 Q70* probably null Het
Gm20388 T C 8: 124,328,098 M204T probably damaging Het
Gsdmc T C 15: 63,804,421 T58A probably benign Het
Hikeshi G A 7: 89,923,610 T26I probably benign Het
Mpdz T C 4: 81,369,723 D433G probably damaging Het
Nostrin T C 2: 69,183,992 S431P probably benign Het
Papd5 C T 8: 88,252,258 Q63* probably null Het
Pdcd1lg2 A T 19: 29,446,062 T169S possibly damaging Het
Plekha7 A T 7: 116,135,184 M1006K probably damaging Het
Rgs6 A T 12: 83,051,323 I94F probably benign Het
Rims2 A T 15: 39,506,984 D938V probably damaging Het
Slc4a8 A G 15: 100,807,438 T842A possibly damaging Het
Spata21 C A 4: 141,111,364 probably null Het
Stk32a C T 18: 43,310,445 T229I possibly damaging Het
Trim33 C T 3: 103,330,182 P185S probably benign Het
Tspoap1 A G 11: 87,777,821 probably null Het
Vcan A G 13: 89,692,319 V742A probably benign Het
Vrtn A T 12: 84,649,063 I196F probably benign Het
Wasf1 A T 10: 40,920,297 I8F probably damaging Het
Ythdc2 A G 18: 44,847,812 I491M probably damaging Het
Zfp292 T C 4: 34,809,775 T1095A possibly damaging Het
Other mutations in Ndufb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Ndufb5 APN 3 32746464 nonsense probably null
IGL02629:Ndufb5 APN 3 32737199 missense probably benign 0.02
R0084:Ndufb5 UTSW 3 32737203 missense probably benign 0.02
R2851:Ndufb5 UTSW 3 32746451 missense probably damaging 1.00
R5663:Ndufb5 UTSW 3 32747749 missense possibly damaging 0.90
R5742:Ndufb5 UTSW 3 32747781 missense probably damaging 0.99
R6609:Ndufb5 UTSW 3 32741683 missense probably benign 0.01
Z31818:Ndufb5 UTSW 3 32746461 missense probably benign 0.19
Posted On2012-04-20