Incidental Mutation 'R6754:Ndufa4'
ID 530953
Institutional Source Beutler Lab
Gene Symbol Ndufa4
Ensembl Gene ENSMUSG00000029632
Gene Name Ndufa4, mitochondrial complex associated
Synonyms MLRQ
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6754 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 11900371-11907449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11906052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 33 (V33A)
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 noncoding transcript
Transcript: ENSMUST00000203801
Predicted Effect probably benign
Transcript: ENSMUST00000204084
Predicted Effect probably benign
Transcript: ENSMUST00000204714
AA Change: V33A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000145413
Gene: ENSMUSG00000029632
AA Change: V33A

DomainStartEndE-ValueType
Pfam:B12D 11 79 5.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204978
AA Change: V33A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144932
Gene: ENSMUSG00000029632
AA Change: V33A

DomainStartEndE-ValueType
Pfam:B12D 11 79 5.3e-38 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T C 17: 57,190,358 (GRCm39) F352L probably damaging Het
Acta2 T C 19: 34,222,383 (GRCm39) D246G probably damaging Het
Ank2 A G 3: 126,890,488 (GRCm39) probably benign Het
Bmpr2 T A 1: 59,909,439 (GRCm39) I971N probably damaging Het
C9 C A 15: 6,519,424 (GRCm39) C8* probably null Het
Casp2 T A 6: 42,246,264 (GRCm39) N207K probably damaging Het
Cd302 T G 2: 60,102,451 (GRCm39) D56A probably benign Het
Cecr2 C T 6: 120,734,539 (GRCm39) P605S probably damaging Het
Cep152 A G 2: 125,429,588 (GRCm39) V723A probably damaging Het
Col17a1 C T 19: 47,639,160 (GRCm39) probably null Het
Ctsk T C 3: 95,409,996 (GRCm39) V168A probably damaging Het
Cyp2c54 A T 19: 40,060,004 (GRCm39) N176K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
F5 A G 1: 164,021,332 (GRCm39) D1269G probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Hivep2 G A 10: 14,005,382 (GRCm39) G660D probably benign Het
Hspb3 A T 13: 113,799,688 (GRCm39) I114K probably damaging Het
Irag1 G A 7: 110,528,719 (GRCm39) P43S probably damaging Het
Itgb7 T G 15: 102,124,595 (GRCm39) *807C probably null Het
Kbtbd2 A G 6: 56,756,239 (GRCm39) V499A probably damaging Het
Lemd3 A T 10: 120,769,565 (GRCm39) I589N probably damaging Het
Mettl13 T C 1: 162,375,692 (GRCm39) Y45C probably damaging Het
Mllt6 C T 11: 97,565,273 (GRCm39) T571I probably damaging Het
Nabp1 A G 1: 51,513,699 (GRCm39) I99T probably damaging Het
Nr1h5 A G 3: 102,856,913 (GRCm39) S200P probably damaging Het
Ntsr1 G A 2: 180,184,476 (GRCm39) R393H probably benign Het
Obi1 C T 14: 104,740,850 (GRCm39) E191K probably damaging Het
Or14j4 T C 17: 37,921,046 (GRCm39) N199D probably benign Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Pcdhb21 A T 18: 37,647,736 (GRCm39) K288N probably benign Het
Pla2g6 T C 15: 79,190,510 (GRCm39) N351D probably benign Het
Polg T C 7: 79,109,584 (GRCm39) E411G probably damaging Het
Prdm11 A G 2: 92,844,137 (GRCm39) L31P probably damaging Het
Rab27b G A 18: 70,129,174 (GRCm39) T40I probably damaging Het
Ruvbl2 T C 7: 45,078,182 (GRCm39) D97G probably benign Het
Saxo4 A T 19: 10,454,453 (GRCm39) Y328N probably damaging Het
Sema3a T C 5: 13,649,243 (GRCm39) V664A possibly damaging Het
Sh2d3c T C 2: 32,644,542 (GRCm39) S842P probably damaging Het
Spam1 A G 6: 24,796,315 (GRCm39) T89A probably damaging Het
Stab1 C T 14: 30,863,038 (GRCm39) G2187E probably benign Het
Tff2 C A 17: 31,363,207 (GRCm39) A6S probably benign Het
Trim80 T C 11: 115,339,000 (GRCm39) V610A probably damaging Het
Trp53bp1 A G 2: 121,101,057 (GRCm39) V47A possibly damaging Het
Ufl1 G A 4: 25,267,796 (GRCm39) Q292* probably null Het
Ulk1 A T 5: 110,938,259 (GRCm39) V571E possibly damaging Het
Usp24 A T 4: 106,217,617 (GRCm39) N447Y probably damaging Het
Vmn1r81 A T 7: 11,993,774 (GRCm39) I278K 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
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
R8873:Ndufa4 UTSW 6 11,907,360 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AACTACAACTTGGGGAGGCG -3'
(R):5'- ATTCCCATTGTAGGACAAATTAGCC -3'

Sequencing Primer
(F):5'- GGCGAGATTGAGATGAGCTC -3'
(R):5'- CCAAATAGCAGATTTAGAGGTTGGC -3'
Posted On 2018-08-01