Incidental Mutation 'R5039:Ndufb7'
ID 395705
Institutional Source Beutler Lab
Gene Symbol Ndufb7
Ensembl Gene ENSMUSG00000033938
Gene Name NADH:ubiquinone oxidoreductase subunit B7
Synonyms 1110002H15Rik
MMRRC Submission 042629-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5039 (G1)
Quality Score 220
Status Validated
Chromosome 8
Chromosomal Location 84293387-84298252 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 84298094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019382] [ENSMUST00000036996] [ENSMUST00000163837] [ENSMUST00000165740] [ENSMUST00000212005] [ENSMUST00000212703] [ENSMUST00000212630] [ENSMUST00000212990]
AlphaFold Q9CR61
Predicted Effect probably benign
Transcript: ENSMUST00000019382
SMART Domains Protein: ENSMUSP00000019382
Gene: ENSMUSG00000031708

DomainStartEndE-ValueType
PDB:2DZJ|A 1 81 2e-49 PDB
Blast:UBQ 5 81 8e-13 BLAST
transmembrane domain 85 107 N/A INTRINSIC
Pfam:Steroid_dh 154 308 3.4e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000036996
AA Change: E105G
SMART Domains Protein: ENSMUSP00000037341
Gene: ENSMUSG00000033938
AA Change: E105G

DomainStartEndE-ValueType
Pfam:NDUF_B7 40 102 3.8e-32 PFAM
low complexity region 103 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127162
Predicted Effect probably benign
Transcript: ENSMUST00000163837
SMART Domains Protein: ENSMUSP00000128329
Gene: ENSMUSG00000031708

DomainStartEndE-ValueType
PDB:2DZJ|A 1 135 2e-27 PDB
Blast:UBQ 91 135 1e-7 BLAST
transmembrane domain 139 161 N/A INTRINSIC
Pfam:Steroid_dh 208 362 6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165740
SMART Domains Protein: ENSMUSP00000131389
Gene: ENSMUSG00000031708

DomainStartEndE-ValueType
PDB:2DZJ|A 1 66 1e-31 PDB
transmembrane domain 70 92 N/A INTRINSIC
Pfam:Steroid_dh 139 293 3.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211972
Predicted Effect probably benign
Transcript: ENSMUST00000212005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212418
Predicted Effect probably benign
Transcript: ENSMUST00000212703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212575
Predicted Effect probably benign
Transcript: ENSMUST00000212630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212187
Predicted Effect probably benign
Transcript: ENSMUST00000212990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212285
Meta Mutation Damage Score 0.5594 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
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 is located 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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,192,863 (GRCm39) A161V probably damaging Het
Anapc2 T C 2: 25,164,808 (GRCm39) I64T possibly damaging Het
Arfgef1 T C 1: 10,269,961 (GRCm39) D396G probably benign Het
Ark2c A G 18: 77,550,608 (GRCm39) S107P probably damaging Het
Axl C T 7: 25,485,340 (GRCm39) V163M probably damaging Het
Blm G A 7: 80,155,621 (GRCm39) P353S possibly damaging Het
Btaf1 T C 19: 36,968,162 (GRCm39) Y1116H probably benign Het
Ccdc18 T A 5: 108,306,514 (GRCm39) probably null Het
Ccdc87 T C 19: 4,890,429 (GRCm39) probably null Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ctr9 C A 7: 110,642,064 (GRCm39) H297Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,734 (GRCm39) probably null Het
Dock4 C A 12: 40,867,745 (GRCm39) N1440K probably damaging Het
Etnk1 T A 6: 143,141,043 (GRCm39) probably null Het
Fam120a A T 13: 49,063,726 (GRCm39) probably null Het
Fanca T C 8: 124,010,785 (GRCm39) D908G probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3633 A C 14: 42,461,161 (GRCm39) N42K possibly damaging Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gpr139 A G 7: 118,744,165 (GRCm39) V140A probably benign Het
Ighv1-62-3 G T 12: 115,425,014 (GRCm39) T13K probably benign Het
Itgb2l T C 16: 96,226,205 (GRCm39) T629A possibly damaging Het
Kcnb2 T C 1: 15,779,724 (GRCm39) S199P probably damaging Het
Kdm1b G A 13: 47,230,962 (GRCm39) G663D probably damaging Het
Lama1 A G 17: 68,052,888 (GRCm39) D407G possibly damaging Het
Macf1 T C 4: 123,405,013 (GRCm39) K391R probably damaging Het
Magi3 A T 3: 104,013,107 (GRCm39) S127T probably damaging Het
Map2 A T 1: 66,477,955 (GRCm39) D1759V probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myrfl T C 10: 116,658,616 (GRCm39) D447G probably damaging Het
Nt5e T A 9: 88,245,634 (GRCm39) N301K probably benign Het
Or10d4b A T 9: 39,534,856 (GRCm39) T146S possibly damaging Het
Or8g27 T A 9: 39,129,410 (GRCm39) Y252* probably null Het
Pcdh10 A G 3: 45,336,296 (GRCm39) N870S probably damaging Het
Pcdh18 A G 3: 49,709,305 (GRCm39) V670A probably benign Het
Phf8-ps A C 17: 33,286,734 (GRCm39) C23G probably damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ric3 G C 7: 108,637,930 (GRCm39) S274R probably benign Het
Rimbp3 A G 16: 17,031,195 (GRCm39) T1540A probably damaging Het
Rp1l1 A T 14: 64,268,805 (GRCm39) M1464L probably benign Het
Slc41a3 A G 6: 90,603,399 (GRCm39) Y140C probably damaging Het
Ssb A T 2: 69,696,581 (GRCm39) E38D possibly damaging Het
Syt14 A T 1: 192,709,292 (GRCm39) I16N probably damaging Het
Tet3 T C 6: 83,352,878 (GRCm39) T973A probably damaging Het
Tial1 T C 7: 128,045,692 (GRCm39) probably benign Het
Tnfrsf1a A G 6: 125,337,675 (GRCm39) T89A possibly damaging Het
Trpv5 T C 6: 41,652,879 (GRCm39) Y98C possibly damaging Het
Ylpm1 T A 12: 85,062,267 (GRCm39) S265T probably damaging Het
Ylpm1 A G 12: 85,089,013 (GRCm39) D1006G probably damaging Het
Other mutations in Ndufb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2204:Ndufb7 UTSW 8 84,297,528 (GRCm39) missense probably damaging 1.00
R4603:Ndufb7 UTSW 8 84,293,494 (GRCm39) missense probably damaging 0.98
R4620:Ndufb7 UTSW 8 84,293,487 (GRCm39) missense probably damaging 0.99
R4916:Ndufb7 UTSW 8 84,297,534 (GRCm39) missense probably damaging 1.00
R5120:Ndufb7 UTSW 8 84,293,606 (GRCm39) unclassified probably benign
R5532:Ndufb7 UTSW 8 84,298,063 (GRCm39) missense probably damaging 1.00
R5968:Ndufb7 UTSW 8 84,293,530 (GRCm39) missense probably benign 0.03
R7117:Ndufb7 UTSW 8 84,297,490 (GRCm39) missense probably benign 0.11
R7456:Ndufb7 UTSW 8 84,293,482 (GRCm39) missense probably benign 0.03
R8745:Ndufb7 UTSW 8 84,297,518 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCTATCCACACCTCGGC -3'
(R):5'- TGAAGTTTAGGCAGGTGACC -3'

Sequencing Primer
(F):5'- CCACATGGGCATGGGAAG -3'
(R):5'- GCAGGTGACCCAAAGCTTTTATTTC -3'
Posted On 2016-06-21