Incidental Mutation 'R4620:Ndufb7'
ID 345245
Institutional Source Beutler Lab
Gene Symbol Ndufb7
Ensembl Gene ENSMUSG00000033938
Gene Name NADH:ubiquinone oxidoreductase subunit B7
Synonyms 1110002H15Rik
MMRRC Submission 042008-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R4620 (G1)
Quality Score 205
Status Validated
Chromosome 8
Chromosomal Location 84293387-84298252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84293487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 14 (S14P)
Ref Sequence ENSEMBL: ENSMUSP00000037341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019382] [ENSMUST00000036996] [ENSMUST00000163837] [ENSMUST00000165740] [ENSMUST00000212005] [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 probably damaging
Transcript: ENSMUST00000036996
AA Change: S14P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037341
Gene: ENSMUSG00000033938
AA Change: S14P

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 probably benign
Transcript: ENSMUST00000212005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212652
Predicted Effect probably benign
Transcript: ENSMUST00000212990
Meta Mutation Damage Score 0.2241 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 99% (80/81)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,335 (GRCm39) Y433* probably null Het
Apba2 C T 7: 64,364,215 (GRCm39) R331C probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
B3gnt5 A T 16: 19,588,632 (GRCm39) M284L probably benign Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Blvra T C 2: 126,938,885 (GRCm39) I287T probably damaging Het
Capn5 T C 7: 97,778,578 (GRCm39) Y347C probably damaging Het
Cdcp2 A G 4: 106,963,927 (GRCm39) E259G probably damaging Het
Cdh2 A G 18: 16,781,665 (GRCm39) V85A probably benign Het
Cdk5rap2 A G 4: 70,184,943 (GRCm39) I1169T probably benign Het
Cenpj A G 14: 56,772,911 (GRCm39) V1043A probably damaging Het
Cfap54 T A 10: 92,805,619 (GRCm39) H1497L probably benign Het
Chat A G 14: 32,175,775 (GRCm39) M95T probably damaging Het
Csmd1 T C 8: 16,052,694 (GRCm39) probably null Het
Csmd3 T C 15: 47,449,149 (GRCm39) E3615G probably benign Het
Cyp2c68 A T 19: 39,701,006 (GRCm39) probably null Het
Dll1 C T 17: 15,590,828 (GRCm39) A332T probably benign Het
Dmrta1 A T 4: 89,577,021 (GRCm39) Q159L probably benign Het
Dnai3 A T 3: 145,748,564 (GRCm39) L850Q probably damaging Het
Eci3 A T 13: 35,132,741 (GRCm39) M212K probably damaging Het
Eml4 T C 17: 83,768,962 (GRCm39) F557L probably benign Het
Fat3 A T 9: 15,908,190 (GRCm39) V2604D probably damaging Het
Frem3 T C 8: 81,395,586 (GRCm39) V1871A possibly damaging Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
H2-M3 C A 17: 37,583,310 (GRCm39) T257K probably damaging Het
Hdgf A G 3: 87,821,883 (GRCm39) N166S possibly damaging Het
Hoxb3 A T 11: 96,236,599 (GRCm39) N226Y probably damaging Het
Itgav T C 2: 83,586,246 (GRCm39) Y169H probably benign Het
Kalrn T G 16: 33,849,075 (GRCm39) I426L probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kif6 T C 17: 50,208,324 (GRCm39) V735A probably benign Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Megf8 G A 7: 25,054,523 (GRCm39) A1880T possibly damaging Het
Miox A T 15: 89,220,324 (GRCm39) Y172F probably benign Het
Myo18a G A 11: 77,708,773 (GRCm39) R48H possibly damaging Het
Npepps A T 11: 97,129,070 (GRCm39) H371Q probably damaging Het
Or10d5j C T 9: 39,868,205 (GRCm39) V9M probably damaging Het
Or52e15 T A 7: 104,645,830 (GRCm39) I94F probably damaging Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or8b12c A G 9: 37,716,115 (GRCm39) T303A probably benign Het
Orc5 A T 5: 22,734,174 (GRCm39) D203E probably damaging Het
Pappa A G 4: 65,245,265 (GRCm39) T1518A probably benign Het
Pde6a A G 18: 61,395,563 (GRCm39) D602G probably damaging Het
Pnliprp2 G A 19: 58,750,718 (GRCm39) V136I possibly damaging Het
Postn A C 3: 54,284,414 (GRCm39) D627A probably damaging Het
Prpf39 T C 12: 65,089,337 (GRCm39) V25A probably benign Het
Pxdc1 A G 13: 34,836,297 (GRCm39) I41T probably damaging Het
Rab11fip1 T A 8: 27,644,243 (GRCm39) E514V probably damaging Het
Rag1 A T 2: 101,474,025 (GRCm39) H372Q probably damaging Het
Ranbp1 A G 16: 18,057,968 (GRCm39) probably benign Het
Rexo5 A G 7: 119,426,526 (GRCm39) I317V probably benign Het
Rragc A G 4: 123,818,622 (GRCm39) Q279R probably damaging Het
Sbf1 A G 15: 89,191,129 (GRCm39) S187P probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Slfn5 G A 11: 82,852,478 (GRCm39) C868Y probably damaging Het
Sorcs2 C T 5: 36,194,838 (GRCm39) A722T probably benign Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Themis2 A G 4: 132,513,333 (GRCm39) W298R probably damaging Het
Tmem168 T G 6: 13,594,952 (GRCm39) N37T probably benign Het
Tmem62 A G 2: 120,826,845 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trav5-4 G T 14: 53,941,853 (GRCm39) M75I probably benign Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Ubap2 C T 4: 41,233,698 (GRCm39) G64E probably damaging Het
Usp32 C A 11: 84,949,953 (GRCm39) probably null Het
Wdfy3 A T 5: 102,054,011 (GRCm39) F1603Y probably damaging Het
Xpo4 A T 14: 57,867,782 (GRCm39) L155Q probably damaging Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zfp780b A T 7: 27,662,178 (GRCm39) Y792* probably null 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
R4916:Ndufb7 UTSW 8 84,297,534 (GRCm39) missense probably damaging 1.00
R5039:Ndufb7 UTSW 8 84,298,094 (GRCm39) unclassified probably benign
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'- GAAGCGTTCCATCGTTCATC -3'
(R):5'- GCAAAGAACATGTCCTAGGCTC -3'

Sequencing Primer
(F):5'- GAAGCGTTCCATCGTTCATCTCTATG -3'
(R):5'- ACCGGGGCAGTCTCATCTTC -3'
Posted On 2015-09-25