Incidental Mutation 'R5853:Ndufv1'
ID 454794
Institutional Source Beutler Lab
Gene Symbol Ndufv1
Ensembl Gene ENSMUSG00000037916
Gene Name NADH:ubiquinone oxidoreductase core subunit V1
Synonyms 24 kDa (FP)
MMRRC Submission 044068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5853 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4057499-4062755 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4058811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025806] [ENSMUST00000042497] [ENSMUST00000128787] [ENSMUST00000128787] [ENSMUST00000129706] [ENSMUST00000134479] [ENSMUST00000134479] [ENSMUST00000136921] [ENSMUST00000133474] [ENSMUST00000155405]
AlphaFold Q91YT0
Predicted Effect probably benign
Transcript: ENSMUST00000025806
SMART Domains Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871

DomainStartEndE-ValueType
C2 99 206 1.14e-10 SMART
low complexity region 231 243 N/A INTRINSIC
C2 259 373 5.14e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000042497
SMART Domains Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 80 252 2.4e-52 PFAM
Pfam:SLBB 275 327 5.1e-10 PFAM
NADH_4Fe-4S 364 409 1.05e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127016
Predicted Effect probably null
Transcript: ENSMUST00000128787
SMART Domains Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 71 243 1.6e-52 PFAM
Pfam:SLBB 266 318 8.6e-10 PFAM
NADH_4Fe-4S 355 400 1.05e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000128787
SMART Domains Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 71 243 1.6e-52 PFAM
Pfam:SLBB 266 318 8.6e-10 PFAM
NADH_4Fe-4S 355 400 1.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129706
SMART Domains Protein: ENSMUSP00000115653
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 80 115 1.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132747
Predicted Effect probably null
Transcript: ENSMUST00000134479
SMART Domains Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 173 3.6e-53 PFAM
Pfam:SLBB 196 248 5.2e-11 PFAM
NADH_4Fe-4S 285 330 1.05e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000134479
SMART Domains Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 173 3.6e-53 PFAM
Pfam:SLBB 196 248 5.2e-11 PFAM
NADH_4Fe-4S 285 330 1.05e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149482
Predicted Effect probably benign
Transcript: ENSMUST00000136921
SMART Domains Protein: ENSMUSP00000123680
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 114 6.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133474
SMART Domains Protein: ENSMUSP00000120223
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 146 3.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155405
SMART Domains Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

DomainStartEndE-ValueType
Pfam:NUDIX 29 159 8.1e-15 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. This gene is a core subunit and is conserved in prokaryotes and eukaryotes. The human ortholog of this protein has been characterized. It has consensus motifs for NADH, flavin mononucleotide, and iron-sulfur binding sites and participates in the oxidation of NADH as part of the dehydrogenase module of complex I. In humans, deficiencies in complex I are associated with myopathies, encephalomyopathies, and neurodegenerative disorders. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 119,939,806 (GRCm39) V303I probably benign Het
Abca4 G T 3: 121,897,180 (GRCm39) V620L probably benign Het
Ankk1 A T 9: 49,329,995 (GRCm39) V320E possibly damaging Het
Aoah G T 13: 21,184,072 (GRCm39) A379S probably benign Het
Apol7e A G 15: 77,598,667 (GRCm39) D44G probably benign Het
Atf2 T C 2: 73,658,813 (GRCm39) probably null Het
Cd209b T C 8: 3,976,549 (GRCm39) probably null Het
Chek1 G A 9: 36,624,983 (GRCm39) S366L probably damaging Het
Chpf2 T C 5: 24,797,190 (GRCm39) L712P probably damaging Het
Clmn C A 12: 104,750,161 (GRCm39) probably null Het
Cnksr3 T C 10: 7,092,977 (GRCm39) D178G probably benign Het
Cpox T C 16: 58,495,780 (GRCm39) Y366H probably damaging Het
Dnah3 A G 7: 119,538,056 (GRCm39) F3632S probably damaging Het
Eif5b T A 1: 38,076,388 (GRCm39) D645E probably damaging Het
Emilin1 G A 5: 31,075,966 (GRCm39) E736K probably damaging Het
Gcnt4 G A 13: 97,083,160 (GRCm39) R152Q probably benign Het
Il6st T C 13: 112,618,071 (GRCm39) S162P probably damaging Het
Iqub T C 6: 24,491,601 (GRCm39) K362E probably benign Het
Kif22 G T 7: 126,632,539 (GRCm39) P257Q possibly damaging Het
Lhx2 T C 2: 38,259,053 (GRCm39) V378A probably damaging Het
Lipo3 A G 19: 33,759,630 (GRCm39) V202A probably benign Het
Lrp1b T A 2: 40,553,738 (GRCm39) N366I unknown Het
Mbip T C 12: 56,382,662 (GRCm39) D268G probably damaging Het
Mc5r A G 18: 68,472,564 (GRCm39) M308V probably benign Het
Mndal C A 1: 173,690,070 (GRCm39) G420V probably damaging Het
Nbea A T 3: 55,899,822 (GRCm39) N1442K probably damaging Het
Ofcc1 A G 13: 40,360,193 (GRCm39) S279P probably benign Het
Or4k2 A T 14: 50,424,326 (GRCm39) M116K possibly damaging Het
Or6b2b T C 1: 92,419,439 (GRCm39) I13V probably benign Het
Pabpc1l A T 2: 163,891,438 (GRCm39) H552L probably benign Het
Pigr T A 1: 130,774,341 (GRCm39) C440* probably null Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Prss30 C T 17: 24,191,820 (GRCm39) V271I probably damaging Het
Psme4 T A 11: 30,741,234 (GRCm39) probably null Het
Qrich1 T A 9: 108,410,807 (GRCm39) probably benign Het
Rem1 C G 2: 152,470,200 (GRCm39) A62G possibly damaging Het
Rftn1 T C 17: 50,354,354 (GRCm39) N58S probably damaging Het
Rp9 G A 9: 22,360,065 (GRCm39) probably benign Het
Rrp1b G A 17: 32,275,658 (GRCm39) V402I possibly damaging Het
Slc25a33 A T 4: 149,838,349 (GRCm39) Y108N probably benign Het
Slc3a1 A G 17: 85,340,008 (GRCm39) M189V probably damaging Het
Slc44a1 A C 4: 53,528,682 (GRCm39) K144T probably benign Het
Tbc1d13 T A 2: 30,027,393 (GRCm39) H100Q probably damaging Het
Timm29 T C 9: 21,504,749 (GRCm39) V139A probably damaging Het
Tmem70 T C 1: 16,735,556 (GRCm39) W9R possibly damaging Het
Tspan1 A G 4: 116,020,502 (GRCm39) probably null Het
Unc13a T C 8: 72,107,773 (GRCm39) probably null Het
Uroc1 T C 6: 90,323,738 (GRCm39) F395S probably damaging Het
Uvrag A C 7: 98,537,284 (GRCm39) L637R possibly damaging Het
Vmn1r213 T G 13: 23,195,684 (GRCm39) L3W probably benign Het
Zfp280d C T 9: 72,238,224 (GRCm39) T528I probably benign Het
Zfp526 C T 7: 24,924,601 (GRCm39) Q287* probably null Het
Other mutations in Ndufv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Ndufv1 APN 19 4,058,803 (GRCm39) missense probably benign 0.03
IGL02376:Ndufv1 APN 19 4,057,823 (GRCm39) splice site probably null
R1929:Ndufv1 UTSW 19 4,058,347 (GRCm39) missense probably benign 0.11
R2270:Ndufv1 UTSW 19 4,058,347 (GRCm39) missense probably benign 0.11
R2271:Ndufv1 UTSW 19 4,058,347 (GRCm39) missense probably benign 0.11
R3917:Ndufv1 UTSW 19 4,060,002 (GRCm39) missense probably damaging 1.00
R4844:Ndufv1 UTSW 19 4,062,574 (GRCm39) missense probably benign 0.00
R4875:Ndufv1 UTSW 19 4,062,653 (GRCm39) splice site probably null
R5188:Ndufv1 UTSW 19 4,059,988 (GRCm39) missense probably damaging 1.00
R6614:Ndufv1 UTSW 19 4,058,749 (GRCm39) missense probably benign 0.24
R7791:Ndufv1 UTSW 19 4,061,533 (GRCm39) splice site probably null
R9155:Ndufv1 UTSW 19 4,059,912 (GRCm39) missense probably damaging 0.97
R9253:Ndufv1 UTSW 19 4,059,412 (GRCm39) missense probably damaging 1.00
R9443:Ndufv1 UTSW 19 4,057,614 (GRCm39) missense probably benign 0.00
R9626:Ndufv1 UTSW 19 4,058,064 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTGGCACAGACATCTCTTCC -3'
(R):5'- TCCCACTAACAAGAGTCATGTTCC -3'

Sequencing Primer
(F):5'- TCTTCCTCCACAGTGCAGGG -3'
(R):5'- CTAACAAGAGTCATGTTCCCAGTGG -3'
Posted On 2017-02-10