Incidental Mutation 'R5919:Ndufaf1'
ID 462547
Institutional Source Beutler Lab
Gene Symbol Ndufaf1
Ensembl Gene ENSMUSG00000027305
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 1
Synonyms 2410001M24Rik, CIA30, CGI-65
MMRRC Submission 044116-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # R5919 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119485927-119493302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119490709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 117 (V117G)
Ref Sequence ENSEMBL: ENSMUSP00000106426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028768] [ENSMUST00000110801] [ENSMUST00000110802]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028768
AA Change: V119G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: V119G

DomainStartEndE-ValueType
Pfam:CIA30 128 301 3e-51 PFAM
Pfam:CBM_11 193 315 1.7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110801
AA Change: V117G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: V117G

DomainStartEndE-ValueType
Pfam:CIA30 126 299 1.1e-47 PFAM
Pfam:CBM_11 127 312 1.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110802
AA Change: V117G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: V117G

DomainStartEndE-ValueType
Pfam:CIA30 126 299 1.1e-47 PFAM
Pfam:CBM_11 127 312 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154127
Meta Mutation Damage Score 0.0993 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T C 1: 151,791,249 (GRCm39) D104G probably damaging Het
6030458C11Rik A T 15: 12,823,754 (GRCm39) H40Q probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Adgrl1 G T 8: 84,659,239 (GRCm39) D648Y probably damaging Het
Adgrl3 C A 5: 81,794,417 (GRCm39) D547E probably benign Het
Aebp1 A T 11: 5,821,421 (GRCm39) M607L probably benign Het
Angptl1 T C 1: 156,686,116 (GRCm39) Y401H probably damaging Het
Arl4d A G 11: 101,557,962 (GRCm39) T163A probably benign Het
Bltp2 A T 11: 78,180,176 (GRCm39) N2152I probably damaging Het
Camk2b A G 11: 5,929,718 (GRCm39) S331P probably damaging Het
Ccdc15 C T 9: 37,231,692 (GRCm39) probably null Het
Ccdc168 T C 1: 44,096,146 (GRCm39) N1651D probably benign Het
Ccdc38 A T 10: 93,414,700 (GRCm39) I370F possibly damaging Het
Clstn1 A T 4: 149,719,703 (GRCm39) H416L probably damaging Het
Col12a1 C T 9: 79,509,580 (GRCm39) R3030H probably damaging Het
Cop1 T A 1: 159,147,294 (GRCm39) V540E probably damaging Het
Crebbp C T 16: 3,925,991 (GRCm39) R710H probably damaging Het
Dsel T C 1: 111,787,983 (GRCm39) I851V probably benign Het
Esrp1 A G 4: 11,344,146 (GRCm39) V642A probably damaging Het
Fanci T C 7: 79,094,486 (GRCm39) L1139P probably damaging Het
Fat1 T C 8: 45,479,910 (GRCm39) probably null Het
Fsip2 A G 2: 82,822,953 (GRCm39) N6229D possibly damaging Het
Garin5b T C 7: 4,773,385 (GRCm39) E144G possibly damaging Het
Gas2l3 G A 10: 89,252,917 (GRCm39) R243W probably damaging Het
Hectd1 G A 12: 51,815,855 (GRCm39) R1406W probably damaging Het
Hecw2 T C 1: 53,976,249 (GRCm39) H180R probably damaging Het
Ift172 T A 5: 31,418,006 (GRCm39) Q1261L possibly damaging Het
Il17rd T C 14: 26,818,001 (GRCm39) V230A probably damaging Het
Kif17 A T 4: 137,997,202 (GRCm39) I42F probably damaging Het
Kif24 T C 4: 41,394,477 (GRCm39) K799E possibly damaging Het
Lrp4 A T 2: 91,303,552 (GRCm39) I84F probably damaging Het
Mplkipl1 T C 19: 61,163,907 (GRCm39) Y176C probably damaging Het
Mroh7 T C 4: 106,551,509 (GRCm39) probably null Het
Ms4a14 C A 19: 11,291,661 (GRCm39) V13F possibly damaging Het
Muc2 T A 7: 141,281,171 (GRCm39) V445D probably damaging Het
Muc6 A T 7: 141,227,837 (GRCm39) M1317K possibly damaging Het
Myof T A 19: 38,012,818 (GRCm39) D39V possibly damaging Het
Ndufs1 C G 1: 63,182,991 (GRCm39) *728S probably null Het
Nup188 A T 2: 30,229,906 (GRCm39) N1375Y probably damaging Het
Oasl1 T A 5: 115,066,329 (GRCm39) I149N probably damaging Het
Or9i16 A G 19: 13,865,209 (GRCm39) Y122H probably damaging Het
Pelo C A 13: 115,225,845 (GRCm39) C204F possibly damaging Het
Phf11d A C 14: 59,593,712 (GRCm39) probably benign Het
Rars2 T C 4: 34,657,232 (GRCm39) L526P probably damaging Het
Rrp1 A G 10: 78,241,422 (GRCm39) L177P probably damaging Het
S100a9 A G 3: 90,602,495 (GRCm39) L33P probably damaging Het
Slc4a7 A G 14: 14,791,092 (GRCm38) D1045G probably benign Het
Slc9a3 C T 13: 74,306,859 (GRCm39) T328I probably damaging Het
Spata6 A G 4: 111,636,405 (GRCm39) D232G probably damaging Het
Taar6 A T 10: 23,861,168 (GRCm39) I126N probably damaging Het
Tmeff2 C A 1: 51,171,311 (GRCm39) C182* probably null Het
Tmem178 T A 17: 81,297,187 (GRCm39) C190S probably damaging Het
Trerf1 T G 17: 47,634,208 (GRCm39) noncoding transcript Het
Trgv6 A G 13: 19,374,782 (GRCm39) Y16C probably benign Het
Ubn2 A G 6: 38,468,423 (GRCm39) I1046V possibly damaging Het
Vmn1r221 A T 13: 23,401,466 (GRCm39) noncoding transcript Het
Vmn2r2 T C 3: 64,044,723 (GRCm39) N141S probably benign Het
Zfp64 T A 2: 168,768,419 (GRCm39) N398Y probably benign Het
Zfp787 T G 7: 6,135,834 (GRCm39) Q139P probably damaging Het
Other mutations in Ndufaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Ndufaf1 APN 2 119,490,950 (GRCm39) missense probably damaging 1.00
IGL01871:Ndufaf1 APN 2 119,488,768 (GRCm39) nonsense probably null
IGL02452:Ndufaf1 APN 2 119,486,907 (GRCm39) missense probably damaging 1.00
IGL03087:Ndufaf1 APN 2 119,486,280 (GRCm39) splice site probably benign
R1211:Ndufaf1 UTSW 2 119,486,156 (GRCm39) missense probably damaging 1.00
R2420:Ndufaf1 UTSW 2 119,486,218 (GRCm39) missense probably damaging 1.00
R2421:Ndufaf1 UTSW 2 119,486,218 (GRCm39) missense probably damaging 1.00
R2422:Ndufaf1 UTSW 2 119,486,218 (GRCm39) missense probably damaging 1.00
R3824:Ndufaf1 UTSW 2 119,490,752 (GRCm39) missense probably benign 0.30
R4942:Ndufaf1 UTSW 2 119,490,547 (GRCm39) missense possibly damaging 0.83
R5382:Ndufaf1 UTSW 2 119,490,893 (GRCm39) missense possibly damaging 0.75
R5460:Ndufaf1 UTSW 2 119,490,958 (GRCm39) missense probably benign 0.02
R5732:Ndufaf1 UTSW 2 119,490,521 (GRCm39) nonsense probably null
R5777:Ndufaf1 UTSW 2 119,490,963 (GRCm39) nonsense probably null
R6371:Ndufaf1 UTSW 2 119,490,534 (GRCm39) missense probably damaging 1.00
R6378:Ndufaf1 UTSW 2 119,486,207 (GRCm39) missense probably damaging 0.99
R7202:Ndufaf1 UTSW 2 119,488,907 (GRCm39) missense probably benign 0.39
R7224:Ndufaf1 UTSW 2 119,488,877 (GRCm39) missense probably damaging 1.00
R7847:Ndufaf1 UTSW 2 119,490,534 (GRCm39) missense probably damaging 1.00
R8208:Ndufaf1 UTSW 2 119,490,827 (GRCm39) missense probably benign 0.01
R8319:Ndufaf1 UTSW 2 119,490,568 (GRCm39) missense probably damaging 1.00
R9236:Ndufaf1 UTSW 2 119,490,712 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GTGGAATCCTGGAGATCATGG -3'
(R):5'- GGCTTACAAGGACATGACCAC -3'

Sequencing Primer
(F):5'- AATCCTGGAGATCATGGCACAGTATC -3'
(R):5'- CAAAGAAGTTGCTTTGGATGCACC -3'
Posted On 2017-02-28