Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Ndufv1'

291095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufv1

Ensembl Gene

ENSMUSG00000037916

Gene Name

NADH:ubiquinone oxidoreductase core subunit V1

Synonyms

24 kDa (FP)

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

4057499-4062755 bp(-) (GRCm39)

Type of Mutation

splice site (1639 bp from exon)

DNA Base Change (assembly)

T to C at 4057823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123680 (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: I419V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916
AA Change: I419V

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: I410V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916
AA Change: I410V

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 null
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: I340V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916
AA Change: I340V

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: ENSMUST00000134049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148283

Predicted Effect

probably null
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

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably damaging	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
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
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

Posted On

2015-04-16