Mutagenetix > Incidental Mutation

Incidental Mutation 'R5188:Ndufv1'

398027

Institutional Source

Beutler Lab

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 #

R5188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4057499-4062755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4059988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 37 (N37K)

Ref Sequence

ENSEMBL: ENSMUSP00000123680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025806] [ENSMUST00000042497] [ENSMUST00000128787] [ENSMUST00000129706] [ENSMUST00000133474] [ENSMUST00000136921] [ENSMUST00000134479] [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 damaging
Transcript: ENSMUST00000042497
AA Change: N116K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916
AA Change: N116K

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 damaging
Transcript: ENSMUST00000128787
AA Change: N107K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916
AA Change: N107K

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

unknown
Transcript: ENSMUST00000129706
AA Change: C120S

SMART Domains

Protein: ENSMUSP00000115653
Gene: ENSMUSG00000037916
AA Change: C120S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132747

Predicted Effect

probably damaging
Transcript: ENSMUST00000133474
AA Change: N37K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120223
Gene: ENSMUSG00000037916
AA Change: N37K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136921
AA Change: N37K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123680
Gene: ENSMUSG00000037916
AA Change: N37K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134479
AA Change: N37K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916
AA Change: N37K

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: ENSMUST00000150852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138917

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca12	T	A	1: 71,330,651 (GRCm39)	I1335F	probably benign	Het
Amigo3	C	A	9: 107,931,882 (GRCm39)	A435E	probably damaging	Het
Atr	T	A	9: 95,803,778 (GRCm39)	N1871K	probably benign	Het
Ctsw	C	T	19: 5,517,120 (GRCm39)	A71T	probably damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Golgb1	A	G	16: 36,738,827 (GRCm39)	T2389A	probably benign	Het
Gpr151	A	G	18: 42,711,820 (GRCm39)	M286T	probably benign	Het
Katnbl1	T	A	2: 112,240,499 (GRCm39)	I262N	probably damaging	Het
Lrp1	A	G	10: 127,443,821 (GRCm39)	C149R	probably damaging	Het
Mpc1	A	T	17: 8,515,215 (GRCm39)		probably benign	Het
Or1n1b	T	A	2: 36,780,405 (GRCm39)	I152L	probably benign	Het
Or5af2	C	A	11: 58,708,146 (GRCm39)	T104K	probably damaging	Het
Or8g50	T	C	9: 39,648,531 (GRCm39)	V140A	probably benign	Het
Or8k1	T	G	2: 86,047,521 (GRCm39)	S178R	probably benign	Het
Pnpla7	C	A	2: 24,887,312 (GRCm39)	P52Q	probably benign	Het
Prh1	A	G	6: 132,548,670 (GRCm39)	Q59R	unknown	Het
Ren1	A	G	1: 133,278,351 (GRCm39)		probably benign	Het
Rnf148	T	C	6: 23,654,139 (GRCm39)	T286A	probably damaging	Het
Sdk1	T	C	5: 141,942,015 (GRCm39)		probably null	Het
Srp72	T	A	5: 77,122,598 (GRCm39)	S10T	possibly damaging	Het
Stk11	G	T	10: 79,962,113 (GRCm39)	G215V	probably damaging	Het
Stk4	T	C	2: 163,930,828 (GRCm39)	M143T	possibly damaging	Het
Supt20	T	A	3: 54,617,849 (GRCm39)	S318T	possibly damaging	Het
Tchh	G	C	3: 93,353,986 (GRCm39)	R1142P	unknown	Het
Vipas39	G	T	12: 87,301,021 (GRCm39)	R161S	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
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
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'- TTGTGCCAGGAAAGACGAC -3'
(R):5'- TCCTGTCATCGGTGTGACAC -3'

Sequencing Primer
(F):5'- AGCCAGCGCTCATGTTC -3'
(R):5'- CTGTCATCGGTGTGACACAAAGAG -3'

Posted On

2016-07-06