Incidental Mutation 'R4555:Ndufaf7'
ID 341850
Institutional Source Beutler Lab
Gene Symbol Ndufaf7
Ensembl Gene ENSMUSG00000024082
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 7
Synonyms 2410091C18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4555 (G1)
Quality Score 222
Status Not validated
Chromosome 17
Chromosomal Location 79244565-79255481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79249516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 138 (S138P)
Ref Sequence ENSEMBL: ENSMUSP00000024887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024887]
AlphaFold Q9CWG8
Predicted Effect probably benign
Transcript: ENSMUST00000024887
AA Change: S138P

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: S138P

DomainStartEndE-ValueType
Pfam:Methyltransf_28 95 349 5.5e-75 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for a gene trap mutation die prenatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,667,937 (GRCm39) probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Afp T G 5: 90,654,546 (GRCm39) I528S possibly damaging Het
Cul9 T C 17: 46,812,755 (GRCm39) D2407G possibly damaging Het
Cyp19a1 T C 9: 54,074,105 (GRCm39) E483G probably damaging Het
Dennd2c G A 3: 103,039,202 (GRCm39) V117I probably benign Het
Inha C T 1: 75,486,227 (GRCm39) P174L possibly damaging Het
Myo15a A G 11: 60,387,763 (GRCm39) R746G probably damaging Het
Osmr T C 15: 6,845,201 (GRCm39) Q855R possibly damaging Het
Pip4k2a C T 2: 18,877,103 (GRCm39) D211N probably damaging Het
Pitpnm1 A G 19: 4,153,085 (GRCm39) Q135R probably benign Het
Plxna1 G T 6: 89,300,310 (GRCm39) T1591K probably damaging Het
Rdh19 T A 10: 127,686,020 (GRCm39) L44Q probably benign Het
Rom1 T C 19: 8,905,380 (GRCm39) T267A possibly damaging Het
Smad3 C T 9: 63,562,070 (GRCm39) V108I possibly damaging Het
Sptb A C 12: 76,659,625 (GRCm39) S1092A probably benign Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmc5 T C 7: 118,269,956 (GRCm39) I902T probably benign Het
Ugt1a6a C T 1: 88,066,349 (GRCm39) R52* probably null Het
Usp54 C T 14: 20,611,090 (GRCm39) R1242H probably benign Het
Vps16 T C 2: 130,285,496 (GRCm39) V813A probably damaging Het
Other mutations in Ndufaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ndufaf7 APN 17 79,254,520 (GRCm39) unclassified probably benign
IGL01571:Ndufaf7 APN 17 79,251,281 (GRCm39) missense probably damaging 0.96
IGL01613:Ndufaf7 APN 17 79,244,931 (GRCm39) missense probably benign 0.01
IGL01763:Ndufaf7 APN 17 79,253,771 (GRCm39) missense possibly damaging 0.76
IGL03149:Ndufaf7 APN 17 79,252,439 (GRCm39) missense possibly damaging 0.86
R0540:Ndufaf7 UTSW 17 79,253,885 (GRCm39) missense probably benign 0.02
R1728:Ndufaf7 UTSW 17 79,245,058 (GRCm39) missense probably damaging 0.99
R1729:Ndufaf7 UTSW 17 79,245,058 (GRCm39) missense probably damaging 0.99
R1784:Ndufaf7 UTSW 17 79,245,058 (GRCm39) missense probably damaging 0.99
R1907:Ndufaf7 UTSW 17 79,249,546 (GRCm39) missense possibly damaging 0.95
R2119:Ndufaf7 UTSW 17 79,252,442 (GRCm39) missense possibly damaging 0.76
R2369:Ndufaf7 UTSW 17 79,252,461 (GRCm39) missense probably damaging 0.99
R4167:Ndufaf7 UTSW 17 79,252,415 (GRCm39) missense probably benign 0.00
R4556:Ndufaf7 UTSW 17 79,249,516 (GRCm39) missense probably benign 0.05
R5236:Ndufaf7 UTSW 17 79,247,060 (GRCm39) missense probably benign 0.23
R5405:Ndufaf7 UTSW 17 79,246,044 (GRCm39) missense probably damaging 1.00
R5514:Ndufaf7 UTSW 17 79,245,051 (GRCm39) missense probably damaging 1.00
R6377:Ndufaf7 UTSW 17 79,250,739 (GRCm39) missense probably null 0.99
R7440:Ndufaf7 UTSW 17 79,249,546 (GRCm39) missense probably damaging 0.98
R8205:Ndufaf7 UTSW 17 79,254,461 (GRCm39) missense probably benign
R8280:Ndufaf7 UTSW 17 79,251,275 (GRCm39) missense possibly damaging 0.95
R8931:Ndufaf7 UTSW 17 79,244,950 (GRCm39) missense possibly damaging 0.55
R9042:Ndufaf7 UTSW 17 79,245,968 (GRCm39) critical splice acceptor site probably null
R9463:Ndufaf7 UTSW 17 79,253,900 (GRCm39) critical splice donor site probably null
R9573:Ndufaf7 UTSW 17 79,246,036 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTTTTACTTGACACAGTGTG -3'
(R):5'- AACATCCTTCAGGTCTCGGTAC -3'

Sequencing Primer
(F):5'- GGCTTAACGGTTTCCAAAGC -3'
(R):5'- TTCAGGTCTCGGTACCAGGAG -3'
Posted On 2015-09-24