Mutagenetix > Incidental Mutation

Incidental Mutation 'R6614:Ndufv1'

523894

Institutional Source

Beutler Lab

Gene Symbol

Ndufv1

Ensembl Gene

ENSMUSG00000037916

Gene Name

NADH:ubiquinone oxidoreductase core subunit V1

Synonyms

24 kDa (FP)

MMRRC Submission

044737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4057499-4062755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4058749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 253 (T253I)

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: T253I

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916
AA Change: T253I

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: T244I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916
AA Change: T244I

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: T174I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916
AA Change: T174I

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: ENSMUST00000147806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150852

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

noncoding transcript
Transcript: ENSMUST00000148283

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149482

Meta Mutation Damage Score

0.1028

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	A	8: 125,587,986 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,244,371 (GRCm39)	N2078I	probably benign	Het
Abcc2	A	G	19: 43,807,800 (GRCm39)	I814V	probably benign	Het
Adamts4	A	G	1: 171,084,193 (GRCm39)	R557G	probably benign	Het
Bltp3a	T	A	17: 28,095,899 (GRCm39)	I70N	probably benign	Het
Bysl	A	T	17: 47,912,767 (GRCm39)	L341Q	probably damaging	Het
Csmd1	C	T	8: 17,266,803 (GRCm39)	G41D	probably damaging	Het
Dnah11	T	C	12: 117,850,411 (GRCm39)	D4221G	possibly damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnajc21	A	G	15: 10,470,349 (GRCm39)		probably null	Het
Elavl1	C	A	8: 4,339,818 (GRCm39)	A255S	probably damaging	Het
Filip1	C	T	9: 79,723,121 (GRCm39)	G1166D	probably damaging	Het
Gnptg	T	C	17: 25,454,235 (GRCm39)	Y184C	probably damaging	Het
Ifit3b	A	T	19: 34,588,919 (GRCm39)	S32C	probably benign	Het
Kcnh7	T	G	2: 62,607,940 (GRCm39)	Y547S	probably damaging	Het
Lima1	G	A	15: 99,681,461 (GRCm39)	A243V	probably damaging	Het
Mast3	T	A	8: 71,234,610 (GRCm39)	I67F	possibly damaging	Het
Ncor1	A	C	11: 62,221,645 (GRCm39)	M1283R	probably benign	Het
Neurog1	G	T	13: 56,399,637 (GRCm39)	Q37K	probably benign	Het
Nol4	T	G	18: 23,053,913 (GRCm39)	K200Q	probably damaging	Het
Obscn	T	C	11: 58,903,627 (GRCm39)	H7599R	probably benign	Het
Oog4	A	G	4: 143,164,445 (GRCm39)	V362A	possibly damaging	Het
Oosp1	T	A	19: 11,668,314 (GRCm39)	D23V	probably damaging	Het
Or11a4	T	C	17: 37,536,790 (GRCm39)	V258A	probably benign	Het
Or11g24	C	T	14: 50,662,546 (GRCm39)	T190I	probably benign	Het
Or4k1	T	A	14: 50,377,821 (GRCm39)	I92F	probably damaging	Het
Or4n4b	T	A	14: 50,536,494 (GRCm39)	I91L	probably benign	Het
Or7a41	C	A	10: 78,870,925 (GRCm39)	C98*	probably null	Het
P2rx3	A	G	2: 84,865,543 (GRCm39)	I34T	probably damaging	Het
Pate7	A	G	9: 35,688,421 (GRCm39)	W55R	probably damaging	Het
Pla2g4a	A	T	1: 149,717,986 (GRCm39)	V621E	probably benign	Het
Prpf39	T	G	12: 65,089,337 (GRCm39)	V25G	probably benign	Het
Psd	T	C	19: 46,301,851 (GRCm39)	K913E	probably benign	Het
Ptx4	A	T	17: 25,341,676 (GRCm39)	R50S	possibly damaging	Het
Rex2	A	T	4: 147,137,018 (GRCm39)	M16L	probably benign	Het
Serac1	A	T	17: 6,095,937 (GRCm39)	V604E	probably damaging	Het
Sp140l2	A	C	1: 85,179,781 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,127,482 (GRCm39)	N1843Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stxbp6	T	A	12: 44,908,058 (GRCm39)	T187S	probably benign	Het
Tg	G	A	15: 66,607,108 (GRCm39)	C215Y	probably damaging	Het
Top2b	A	T	14: 16,407,142 (GRCm38)	K671*	probably null	Het
Trmt1	G	T	8: 85,415,962 (GRCm39)	V7L	probably benign	Het
Ttn	C	T	2: 76,615,174 (GRCm39)	R15102H	probably benign	Het
Unc79	A	T	12: 102,957,689 (GRCm39)	I35F	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
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
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'- TGAGTTGGCTCCAGGCTTAC -3'
(R):5'- ACTAACAAGAGTCATGTTCCCAG -3'

Sequencing Primer
(F):5'- ACCAGCATGTTTCTCAATCAGC -3'
(R):5'- TGAATCTCGAGTTCAAGGCC -3'

Posted On

2018-06-22