Incidental Mutation 'R8253:Ndufaf6'
ID 640115
Institutional Source Beutler Lab
Gene Symbol Ndufaf6
Ensembl Gene ENSMUSG00000050323
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 6
Synonyms 2310030N02Rik
MMRRC Submission 067679-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.385) question?
Stock # R8253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 11051045-11076205 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11059086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 248 (R248W)
Ref Sequence ENSEMBL: ENSMUSP00000062039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058183]
AlphaFold A2AIL4
Predicted Effect probably damaging
Transcript: ENSMUST00000058183
AA Change: R248W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062039
Gene: ENSMUSG00000050323
AA Change: R248W

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
Pfam:SQS_PSY 65 323 3.7e-65 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,874,702 (GRCm39) E493G probably benign Het
Akr1a1 A T 4: 116,493,840 (GRCm39) D313E probably damaging Het
Ap1m1 T A 8: 73,006,730 (GRCm39) V242E probably damaging Het
Atad2b T A 12: 5,024,159 (GRCm39) S670T possibly damaging Het
Atad2b C T 12: 5,024,160 (GRCm39) S670L probably benign Het
Atp23 C T 10: 126,704,543 (GRCm39) G197S probably benign Het
Avpr1b A T 1: 131,537,154 (GRCm39) T313S probably benign Het
Cblc A G 7: 19,520,157 (GRCm39) I362T probably damaging Het
Ccdc171 T A 4: 83,661,207 (GRCm39) S1106T probably damaging Het
Cimap3 T C 3: 105,905,683 (GRCm39) M193V probably benign Het
Csde1 C A 3: 102,946,037 (GRCm39) N10K probably damaging Het
Csnk2a2 T C 8: 96,215,005 (GRCm39) Y24C Het
Cyb5r4 G T 9: 86,941,108 (GRCm39) L420F probably damaging Het
Cyth4 A G 15: 78,486,937 (GRCm39) I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dner C T 1: 84,512,598 (GRCm39) G323E probably damaging Het
Elf1 T C 14: 79,773,792 (GRCm39) M1T probably null Het
Fam13c T C 10: 70,389,033 (GRCm39) S520P probably damaging Het
Fhip1b T A 7: 105,028,294 (GRCm39) H885L possibly damaging Het
Gabra2 A G 5: 71,249,413 (GRCm39) I30T probably benign Het
Gm6793 T A 8: 112,741,640 (GRCm39) M1L probably benign Het
Inpp5a T C 7: 139,061,556 (GRCm39) L76P probably damaging Het
Itih5 T C 2: 10,243,406 (GRCm39) I381T probably benign Het
Lyrm7 T C 11: 54,741,227 (GRCm39) I36V probably null Het
Magi2 A G 5: 20,814,305 (GRCm39) I906V probably benign Het
Mup5 C T 4: 61,752,811 (GRCm39) A71T probably benign Het
Or52z14 A T 7: 103,253,538 (GRCm39) I226L possibly damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Palm A T 10: 79,643,511 (GRCm39) K80* probably null Het
Pcyox1 C T 6: 86,366,044 (GRCm39) R390K probably benign Het
Pdx1 T C 5: 147,207,459 (GRCm39) probably null Het
Pkp2 T A 16: 16,086,406 (GRCm39) V689D probably damaging Het
Prkar2a G T 9: 108,617,638 (GRCm39) R232L probably damaging Het
Rasgrp4 C T 7: 28,838,287 (GRCm39) T87M possibly damaging Het
Ryr2 T A 13: 11,842,439 (GRCm39) Q486L possibly damaging Het
Shd T C 17: 56,283,295 (GRCm39) V309A Het
Skint7 C T 4: 111,834,675 (GRCm39) Q20* probably null Het
Slc35g1 C A 19: 38,391,237 (GRCm39) T173K probably damaging Het
Slit2 T C 5: 48,433,013 (GRCm39) F1073L probably benign Het
Snx18 T A 13: 113,731,317 (GRCm39) D559V probably damaging Het
Tbr1 G T 2: 61,635,585 (GRCm39) Q178H probably benign Het
Tmem145 T G 7: 25,006,939 (GRCm39) Y114D probably damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Uba2 T C 7: 33,850,323 (GRCm39) M377V probably damaging Het
Vps13c T A 9: 67,850,770 (GRCm39) Y2242* probably null Het
Xdh T G 17: 74,225,377 (GRCm39) Q475P possibly damaging Het
Zbtb42 T G 12: 112,646,746 (GRCm39) L307R probably damaging Het
Other mutations in Ndufaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Ndufaf6 APN 4 11,062,127 (GRCm39) missense probably damaging 1.00
IGL01325:Ndufaf6 APN 4 11,070,251 (GRCm39) missense probably benign 0.00
IGL02524:Ndufaf6 APN 4 11,059,091 (GRCm39) missense probably benign 0.10
PIT4366001:Ndufaf6 UTSW 4 11,073,215 (GRCm39) missense probably benign 0.00
R0605:Ndufaf6 UTSW 4 11,051,224 (GRCm39) missense probably damaging 0.99
R0855:Ndufaf6 UTSW 4 11,051,169 (GRCm39) missense probably damaging 1.00
R1674:Ndufaf6 UTSW 4 11,070,264 (GRCm39) missense probably benign 0.04
R1857:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R1858:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R1859:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R2174:Ndufaf6 UTSW 4 11,070,228 (GRCm39) missense probably benign 0.00
R4651:Ndufaf6 UTSW 4 11,062,070 (GRCm39) missense probably damaging 1.00
R4870:Ndufaf6 UTSW 4 11,060,917 (GRCm39) missense probably benign 0.01
R5131:Ndufaf6 UTSW 4 11,060,931 (GRCm39) missense probably damaging 0.99
R5929:Ndufaf6 UTSW 4 11,051,150 (GRCm39) missense probably benign 0.00
R9170:Ndufaf6 UTSW 4 11,070,301 (GRCm39) missense probably benign 0.33
R9224:Ndufaf6 UTSW 4 11,062,089 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCATCATGGTAAGACTCCATAGTATAC -3'
(R):5'- ATGACCTTGGCTTGCCTTG -3'

Sequencing Primer
(F):5'- CTAAGTGACTGGCGAAGA -3'
(R):5'- AGCCTCCAGTGTCAGTTAAGCATG -3'
Posted On 2020-07-28