Incidental Mutation 'R7791:Ndufv1'
ID 628558
Institutional Source Beutler Lab
Gene Symbol Ndufv1
Ensembl Gene ENSMUSG00000037916
Gene Name NADH:ubiquinone oxidoreductase core subunit V1
Synonyms 24 kDa (FP)
MMRRC Submission 045847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7791 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4057499-4062755 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4061533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025806] [ENSMUST00000042497] [ENSMUST00000128787] [ENSMUST00000129706] [ENSMUST00000133474] [ENSMUST00000134479] [ENSMUST00000136921]
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 benign
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 probably benign
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 probably null
Transcript: ENSMUST00000133474
SMART Domains Protein: ENSMUSP00000120223
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 146 3.3e-48 PFAM
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000136921
SMART Domains Protein: ENSMUSP00000123680
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 114 6.7e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,508 (GRCm39) M108K probably benign Het
AAdacl4fm3 A G 4: 144,430,015 (GRCm39) S325P probably damaging Het
Adamts9 A T 6: 92,849,366 (GRCm39) V1031D probably benign Het
Agap3 C T 5: 24,681,411 (GRCm39) R122C probably damaging Het
Arhgap27 A G 11: 103,230,020 (GRCm39) probably null Het
Atp1a2 T A 1: 172,103,782 (GRCm39) I950F probably benign Het
Bahcc1 T G 11: 120,159,203 (GRCm39) H143Q probably damaging Het
Bcl7b T A 5: 135,199,968 (GRCm39) D40E probably damaging Het
C9 C T 15: 6,519,359 (GRCm39) R399C possibly damaging Het
Capn13 T C 17: 73,689,883 (GRCm39) I43V possibly damaging Het
Ctcf A G 8: 106,391,571 (GRCm39) T289A possibly damaging Het
Cux2 T C 5: 122,005,162 (GRCm39) N1008S probably benign Het
Dst T A 1: 34,193,673 (GRCm39) M294K probably damaging Het
Eml4 G T 17: 83,781,135 (GRCm39) D778Y probably benign Het
Exoc3l4 A C 12: 111,389,974 (GRCm39) D183A probably damaging Het
Eya4 A T 10: 22,989,825 (GRCm39) S511T probably damaging Het
Fbrsl1 T C 5: 110,595,885 (GRCm39) H50R probably benign Het
Gemin5 G A 11: 58,015,819 (GRCm39) P1396S probably benign Het
Gnb4 A G 3: 32,644,192 (GRCm39) F151L possibly damaging Het
Gnptab A G 10: 88,276,084 (GRCm39) probably null Het
Gpbp1l1 T A 4: 116,431,617 (GRCm39) W92R probably damaging Het
Gucy1b1 A T 3: 81,942,704 (GRCm39) Y479* probably null Het
Htr3a T A 9: 48,812,875 (GRCm39) Q188L possibly damaging Het
Ighv5-9-1 A G 12: 113,700,165 (GRCm39) F18S probably damaging Het
Loxhd1 A G 18: 77,471,425 (GRCm39) T1004A probably damaging Het
Mansc4 G A 6: 146,983,042 (GRCm39) L132F unknown Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtor G T 4: 148,547,397 (GRCm39) R460L probably benign Het
Mtus1 A T 8: 41,536,417 (GRCm39) F433Y possibly damaging Het
Myoc T C 1: 162,476,690 (GRCm39) Y465H probably damaging Het
N4bp1 A G 8: 87,579,831 (GRCm39) V657A probably damaging Het
Nectin1 T C 9: 43,703,336 (GRCm39) I198T probably benign Het
Or10h1 T A 17: 33,418,326 (GRCm39) C101* probably null Het
Or8g20 T C 9: 39,396,177 (GRCm39) D124G probably damaging Het
Padi2 C T 4: 140,644,907 (GRCm39) T47I probably benign Het
Pdia4 A T 6: 47,784,056 (GRCm39) I116N probably damaging Het
Pkdrej T A 15: 85,700,132 (GRCm39) I1935L possibly damaging Het
Pnpla7 C A 2: 24,942,078 (GRCm39) A1173D probably damaging Het
Ralgapa1 A T 12: 55,788,304 (GRCm39) L593Q probably damaging Het
Scn5a A G 9: 119,372,402 (GRCm39) S231P possibly damaging Het
Slc13a2 A G 11: 78,312,890 (GRCm39) probably null Het
Spdl1 A G 11: 34,704,304 (GRCm39) S510P possibly damaging Het
Tbxa2r G T 10: 81,170,540 (GRCm39) *342L probably null Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Tmem52b A G 6: 129,489,966 (GRCm39) probably benign Het
Tsc1 T C 2: 28,571,960 (GRCm39) F844L probably damaging Het
Ttc39a A G 4: 109,283,544 (GRCm39) N158S probably benign Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Vgf T C 5: 137,060,885 (GRCm39) L349P unknown Het
Vil1 T C 1: 74,467,295 (GRCm39) Y681H probably damaging Het
Zfp654 A G 16: 64,603,634 (GRCm39) *572R 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
R5853:Ndufv1 UTSW 19 4,058,811 (GRCm39) splice site probably null
R6614:Ndufv1 UTSW 19 4,058,749 (GRCm39) missense probably benign 0.24
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'- ACAGGTTGGTAAAGATCCGGTC -3'
(R):5'- TGAAGTGTGACATGGCTCC -3'

Sequencing Primer
(F):5'- CTTCATCCTTCAGTGAGCCAAATGAG -3'
(R):5'- AGCTTTGTGGCCTTCCCTAAG -3'
Posted On 2020-05-04