Incidental Mutation 'R5968:Ndufb7'
ID 470699
Institutional Source Beutler Lab
Gene Symbol Ndufb7
Ensembl Gene ENSMUSG00000033938
Gene Name NADH:ubiquinone oxidoreductase subunit B7
Synonyms 1110002H15Rik
MMRRC Submission 043249-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5968 (G1)
Quality Score 167
Status Not validated
Chromosome 8
Chromosomal Location 84293387-84298252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84293530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 28 (D28G)
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 benign
Transcript: ENSMUST00000036996
AA Change: D28G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037341
Gene: ENSMUSG00000033938
AA Change: D28G

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 probably benign
Transcript: ENSMUST00000212990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212187
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,077 (GRCm39) T978A probably benign Het
Adcy9 A G 16: 4,116,606 (GRCm39) L638P probably damaging Het
Adgrf2 A G 17: 43,026,063 (GRCm39) probably null Het
Anxa6 T C 11: 54,885,167 (GRCm39) I461V probably damaging Het
Arap1 T C 7: 101,043,945 (GRCm39) L668P probably damaging Het
Ces2e G T 8: 105,659,627 (GRCm39) G498W probably damaging Het
Crb1 A G 1: 139,170,739 (GRCm39) C823R probably damaging Het
Ehmt1 C T 2: 24,726,469 (GRCm39) R772H probably damaging Het
Enpep A G 3: 129,074,587 (GRCm39) L721S probably benign Het
Flii T G 11: 60,611,038 (GRCm39) I464L probably benign Het
Gm57858 T C 3: 36,064,840 (GRCm39) Q511R probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ift172 T C 5: 31,418,828 (GRCm39) E1162G probably damaging Het
Meioc A G 11: 102,566,657 (GRCm39) S758G probably damaging Het
Ndst1 A C 18: 60,846,148 (GRCm39) S54A probably benign Het
Ndufaf8 G T 11: 119,990,055 (GRCm39) E56* probably null Het
Or1e16 T C 11: 73,286,018 (GRCm39) M277V possibly damaging Het
Or2a25 A G 6: 42,888,480 (GRCm39) I8V probably benign Het
Prkg1 A T 19: 30,570,324 (GRCm39) F443I probably damaging Het
Pspc1 C T 14: 57,001,693 (GRCm39) R227H probably benign Het
Ptpn21 A G 12: 98,677,149 (GRCm39) Y120H probably damaging Het
Runx1t1 A T 4: 13,841,890 (GRCm39) probably null Het
Ryr3 T C 2: 112,477,394 (GRCm39) D4449G probably benign Het
Sacs C A 14: 61,427,078 (GRCm39) A159E probably damaging Het
Slc16a14 T C 1: 84,890,226 (GRCm39) I360V possibly damaging Het
Tcstv5 T C 13: 120,411,618 (GRCm39) probably benign Het
Thop1 A G 10: 80,911,393 (GRCm39) D93G probably benign Het
Tmem92 A C 11: 94,669,564 (GRCm39) M85R probably benign Het
Ttn T C 2: 76,688,017 (GRCm39) probably benign Het
Zdhhc5 T C 2: 84,524,719 (GRCm39) probably null Het
Zfp335 T C 2: 164,734,314 (GRCm39) H1291R probably damaging Het
Zfp957 C T 14: 79,451,496 (GRCm39) C101Y 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
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
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'- TGACCCGGAAGACACTGAAG -3'
(R):5'- AAGAACATGTCCTAGGCTCCG -3'

Sequencing Primer
(F):5'- ACTGAAGGGGCAGTGCTTC -3'
(R):5'- ACCGGGGCAGTCTCATCTTC -3'
Posted On 2017-03-31