Mutagenetix > Incidental Mutation

Incidental Mutation 'R2270:Ndufv1'

242428

Institutional Source

Beutler Lab

Gene Symbol

Ndufv1

Ensembl Gene

ENSMUSG00000037916

Gene Name

NADH:ubiquinone oxidoreductase core subunit V1

Synonyms

24 kDa (FP)

MMRRC Submission

040270-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2270 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

4057499-4062755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4058347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 359 (R359L)

Ref Sequence

ENSEMBL: ENSMUSP00000042967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025806] [ENSMUST00000042497] [ENSMUST00000128787] [ENSMUST00000129706] [ENSMUST00000133474] [ENSMUST00000134479] [ENSMUST00000136921] [ENSMUST00000155405]

AlphaFold

Q91YT0

Predicted Effect

probably benign
Transcript: ENSMUST00000025806

SMART Domains

Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871

Domain	Start	End	E-Value	Type
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
AA Change: R359L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916
AA Change: R359L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000128787
AA Change: R350L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916
AA Change: R350L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	80	115	1.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132747

Predicted Effect

probably benign
Transcript: ENSMUST00000133474

SMART Domains

Protein: ENSMUSP00000120223
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	1	146	3.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134479
AA Change: R280L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916
AA Change: R280L

Domain	Start	End	E-Value	Type
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: ENSMUST00000148283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150852

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

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	1	114	6.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155405

SMART Domains

Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

Domain	Start	End	E-Value	Type
Pfam:NUDIX	29	159	8.1e-15	PFAM

Meta Mutation Damage Score

0.2621

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,065,863 (GRCm39)	R54W	possibly damaging	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atp11b	A	G	3: 35,864,283 (GRCm39)		probably null	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Chat	T	C	14: 32,176,538 (GRCm39)	R79G	probably damaging	Het
Chek1	A	G	9: 36,630,982 (GRCm39)	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Crip2	A	C	12: 113,108,486 (GRCm39)	K62N	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnm3	A	T	1: 162,305,358 (GRCm39)	L12Q	probably damaging	Het
Eftud2	T	C	11: 102,755,607 (GRCm39)	N200S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpr143	T	A	X: 151,573,566 (GRCm39)	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,310,462 (GRCm39)	I498V	probably null	Het
Ipo4	A	G	14: 55,871,557 (GRCm39)	L168P	probably damaging	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,726,470 (GRCm39)	E411G	probably benign	Het
Mybpc1	C	A	10: 88,387,269 (GRCm39)	V106F	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,535,132 (GRCm39)	N352K	probably benign	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,115,019 (GRCm39)	V515A	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Olfm4	C	A	14: 80,249,315 (GRCm39)	T144K	probably damaging	Het
Or11g25	G	T	14: 50,723,494 (GRCm39)	C193F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Phf12	G	T	11: 77,875,001 (GRCm39)	A76S	possibly damaging	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,556,031 (GRCm39)	V610A	probably benign	Het
Prrc2a	T	C	17: 35,368,512 (GRCm39)	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,291,749 (GRCm39)	V252A	probably benign	Het
Rcn3	A	G	7: 44,738,075 (GRCm39)	S98P	probably damaging	Het
Rere	T	C	4: 150,561,837 (GRCm39)	S248P	unknown	Het
Rnaseh2a	T	C	8: 85,692,048 (GRCm39)	E75G	probably benign	Het
Slc15a1	A	T	14: 121,717,406 (GRCm39)	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,566,339 (GRCm39)	L14R	probably damaging	Het
Slfn2	C	T	11: 82,960,761 (GRCm39)	R247C	probably damaging	Het
Ttn	T	C	2: 76,778,708 (GRCm39)	I1218M	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Yme1l1	T	C	2: 23,065,232 (GRCm39)	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,569,587 (GRCm39)	M1478T	probably benign	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Znhit2	A	G	19: 6,111,261 (GRCm39)	E2G	probably damaging	Het
Zpbp	A	T	11: 11,368,272 (GRCm39)	M133K	probably benign	Het

Other mutations in Ndufv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGTGCACAGACATCTTAGCC -3'
(R):5'- GGAGAGCCATGACAATCCTTTTG -3'

Sequencing Primer
(F):5'- GCACAGACATCTTAGCCTCCCTC -3'
(R):5'- CCTTTTGCAAATTGTCACAGGTG -3'

Posted On

2014-10-16