Incidental Mutation 'R8873:Ndufa4'
ID 676416
Institutional Source Beutler Lab
Gene Symbol Ndufa4
Ensembl Gene ENSMUSG00000029632
Gene Name Ndufa4, mitochondrial complex associated
Synonyms MLRQ
MMRRC Submission 068686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R8873 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 11900371-11907449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11907360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 2 (L2P)
Ref Sequence ENSEMBL: ENSMUSP00000144932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031637] [ENSMUST00000155037] [ENSMUST00000203459] [ENSMUST00000204084] [ENSMUST00000204714] [ENSMUST00000204978]
AlphaFold Q62425
Predicted Effect probably benign
Transcript: ENSMUST00000031637
SMART Domains Protein: ENSMUSP00000031637
Gene: ENSMUSG00000029632

DomainStartEndE-ValueType
Pfam:B12D 11 79 5.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155037
SMART Domains Protein: ENSMUSP00000144981
Gene: ENSMUSG00000029629

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
coiled coil region 61 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203459
Predicted Effect probably benign
Transcript: ENSMUST00000204084
Predicted Effect probably benign
Transcript: ENSMUST00000204714
AA Change: L2P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000145413
Gene: ENSMUSG00000029632
AA Change: L2P

DomainStartEndE-ValueType
Pfam:B12D 11 79 5.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204978
AA Change: L2P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144932
Gene: ENSMUSG00000029632
AA Change: L2P

DomainStartEndE-ValueType
Pfam:B12D 11 79 5.3e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C A 11: 77,406,577 (GRCm39) R185S probably damaging Het
Aoah A G 13: 21,089,852 (GRCm39) N157D probably benign Het
Arhgap35 T C 7: 16,295,415 (GRCm39) N1217D possibly damaging Het
Asah2 A T 19: 32,022,288 (GRCm39) probably null Het
Asb2 T C 12: 103,299,725 (GRCm39) N236D probably damaging Het
Auts2 A G 5: 131,472,502 (GRCm39) F317L Het
Cfap74 T C 4: 155,539,465 (GRCm39) I930T unknown Het
Cmip T C 8: 118,103,929 (GRCm39) V51A probably damaging Het
Col15a1 T C 4: 47,247,552 (GRCm39) probably null Het
Cstf3 A T 2: 104,475,355 (GRCm39) H97L possibly damaging Het
Dip2c A T 13: 9,625,182 (GRCm39) M559L probably benign Het
Dnah5 A G 15: 28,219,334 (GRCm39) N51D probably benign Het
Dock4 T A 12: 40,726,767 (GRCm39) Y348* probably null Het
Ehhadh C T 16: 21,581,598 (GRCm39) G465R probably damaging Het
Fam110b C T 4: 5,799,103 (GRCm39) Q174* probably null Het
Fam124a A G 14: 62,844,024 (GRCm39) T511A probably benign Het
Fbxl17 A G 17: 63,691,971 (GRCm39) V528A probably damaging Het
Fbxw24 C A 9: 109,453,996 (GRCm39) W50L probably damaging Het
Fyb2 A T 4: 104,856,538 (GRCm39) E582V probably damaging Het
Ganab G A 19: 8,888,243 (GRCm39) W463* probably null Het
Gm11569 G T 11: 99,689,210 (GRCm39) T163N unknown Het
Gm8237 G T 14: 5,862,453 (GRCm38) Y86* probably null Het
Hrh4 T A 18: 13,140,195 (GRCm39) M30K Het
Ifi209 A G 1: 173,470,156 (GRCm39) Y248C probably damaging Het
Jazf1 T A 6: 52,789,165 (GRCm39) H103L probably damaging Het
Ltbp1 A G 17: 75,486,172 (GRCm39) T66A probably damaging Het
Npnt G A 3: 132,655,816 (GRCm39) probably benign Het
Nrxn1 G T 17: 90,872,821 (GRCm39) C1052* probably null Het
Nsmce4a G T 7: 130,148,886 (GRCm39) A40E unknown Het
Or2t6 A T 14: 14,175,344 (GRCm38) V246E probably damaging Het
Pcdhgb2 T C 18: 37,824,341 (GRCm39) V444A probably damaging Het
Pcdhgb7 C T 18: 37,886,575 (GRCm39) P582S possibly damaging Het
Phf3 T C 1: 30,843,773 (GRCm39) T1729A possibly damaging Het
Plod2 T A 9: 92,489,112 (GRCm39) probably benign Het
Pramel15 G T 4: 144,099,871 (GRCm39) A298E probably benign Het
Rbm20 G T 19: 53,665,911 (GRCm39) V25F probably benign Het
Recql G T 6: 142,308,013 (GRCm39) Q53K Het
Rps18-ps6 T A 13: 97,896,843 (GRCm39) N85I probably damaging Het
Rtel1 CAAA CAA 2: 180,997,816 (GRCm39) probably null Het
Serpine2 A G 1: 79,799,267 (GRCm39) probably benign Het
Siglecg A G 7: 43,067,448 (GRCm39) T672A probably benign Het
Skil T C 3: 31,152,075 (GRCm39) L199P probably damaging Het
Tmprss11f C T 5: 86,692,733 (GRCm39) A64T probably damaging Het
Ttc3 C T 16: 94,243,842 (GRCm39) T1282M probably damaging Het
Other mutations in Ndufa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0238:Ndufa4 UTSW 6 11,906,023 (GRCm39) missense probably benign 0.14
R1785:Ndufa4 UTSW 6 11,900,574 (GRCm39) missense probably benign 0.08
R1786:Ndufa4 UTSW 6 11,900,574 (GRCm39) missense probably benign 0.08
R5677:Ndufa4 UTSW 6 11,900,574 (GRCm39) missense probably benign 0.04
R6754:Ndufa4 UTSW 6 11,906,052 (GRCm39) missense probably benign 0.00
R7237:Ndufa4 UTSW 6 11,906,018 (GRCm39) critical splice donor site probably null
R7272:Ndufa4 UTSW 6 11,905,209 (GRCm39) nonsense probably null
R7574:Ndufa4 UTSW 6 11,906,092 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAGAGCCACAGTGTTCCAAC -3'
(R):5'- TCAGGCACCTTAGAGGACAG -3'

Sequencing Primer
(F):5'- ACCCCAGGTAGAGGCTTCAAG -3'
(R):5'- TTAGAGGACAGCCGCATCC -3'
Posted On 2021-07-15