Mutagenetix > Incidental Mutation

Incidental Mutation 'R7459:Ndufa7'

578356

Institutional Source

Beutler Lab

Gene Symbol

Ndufa7

Ensembl Gene

ENSMUSG00000041881

Gene Name

NADH:ubiquinone oxidoreductase subunit A7

Synonyms

NADH oxidoreductase, 14.5kDa, 2400007M02Rik

MMRRC Submission

045533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34043546-34057290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34057140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 107 (S107T)

Ref Sequence

ENSEMBL: ENSMUSP00000039692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002379] [ENSMUST00000048249] [ENSMUST00000173132]

AlphaFold

Q9Z1P6

Predicted Effect

probably benign
Transcript: ENSMUST00000002379

SMART Domains

Protein: ENSMUSP00000002379
Gene: ENSMUSG00000002308

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LDLa	46	84	1.16e-14	SMART
LDLa	123	161	4.24e-8	SMART
transmembrane domain	207	229	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000048249
AA Change: S107T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881
AA Change: S107T

Domain	Start	End	E-Value	Type
Pfam:CI-B14_5a	5	102	2.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173132

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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. Complex I has been biochemically separated into four fractions. The bovine ortholog of this protein has been reported to be part of the I-lambda fraction, which forms the extrinsic globular domain. In humans, deficiencies in complex I are associated with myopathies, encephalomyopathies, and neurodegenerative disorders. Pseudogenes of this gene are located on chromosomes 7 and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,756,933 (GRCm39)	V730E	probably damaging	Het
Agbl1	G	A	7: 76,069,814 (GRCm39)	D449N	not run	Het
Agr2	A	T	12: 36,047,452 (GRCm39)	E96V	probably benign	Het
Atp1a2	A	C	1: 172,114,862 (GRCm39)	S308A	probably benign	Het
Birc7	T	C	2: 180,571,150 (GRCm39)	S71P	possibly damaging	Het
Brme1	T	G	8: 84,893,981 (GRCm39)	S383A	probably benign	Het
Camk2g	T	C	14: 20,829,275 (GRCm39)	I73V	probably damaging	Het
Carf	C	A	1: 60,167,198 (GRCm39)	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,767,820 (GRCm39)	Q665*	probably null	Het
Cd79a	A	T	7: 24,598,567 (GRCm39)	T39S	possibly damaging	Het
Ces5a	C	A	8: 94,262,369 (GRCm39)		probably benign	Het
Dkk2	C	A	3: 131,880,790 (GRCm39)	T145N	probably benign	Het
Dot1l	C	T	10: 80,609,007 (GRCm39)	A188V	probably damaging	Het
Egfr	T	A	11: 16,846,967 (GRCm39)	V788D	probably damaging	Het
Esyt3	T	A	9: 99,240,117 (GRCm39)	H109L	probably benign	Het
Fam234b	C	T	6: 135,188,899 (GRCm39)	T168I	probably benign	Het
Fan1	G	T	7: 63,998,714 (GRCm39)	S936Y	probably damaging	Het
Fat2	T	C	11: 55,194,745 (GRCm39)	E1098G	probably damaging	Het
Fcgbp	A	G	7: 27,806,710 (GRCm39)	D2226G	possibly damaging	Het
Flacc1	T	G	1: 58,730,911 (GRCm39)	E48D	possibly damaging	Het
Flvcr2	T	C	12: 85,793,831 (GRCm39)	V69A	probably benign	Het
Foxb2	T	A	19: 16,850,436 (GRCm39)	H190L	unknown	Het
Fut4	C	T	9: 14,662,602 (GRCm39)	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,542,426 (GRCm39)	A91V	probably benign	Het
Hip1	A	G	5: 135,443,151 (GRCm39)	S961P	probably damaging	Het
Hsf2bp	C	T	17: 32,165,708 (GRCm39)	V296M	probably benign	Het
Hspbp1	G	T	7: 4,687,577 (GRCm39)	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,944,432 (GRCm39)	E81K	probably benign	Het
Isg20l2	T	C	3: 87,839,485 (GRCm39)	L232P	possibly damaging	Het
Isx	A	G	8: 75,619,392 (GRCm39)	Y181C	probably benign	Het
Kif9	A	G	9: 110,348,109 (GRCm39)	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,727,682 (GRCm39)	V177D	probably benign	Het
Lpin3	T	C	2: 160,739,220 (GRCm39)	S343P	probably benign	Het
Mat1a	A	T	14: 40,842,141 (GRCm39)	Q246L	probably benign	Het
Mlkl	T	C	8: 112,060,162 (GRCm39)	I75V	probably benign	Het
Niban3	T	A	8: 72,057,671 (GRCm39)	C516S	possibly damaging	Het
Nip7	T	A	8: 107,783,968 (GRCm39)	C69*	probably null	Het
Nipa2	A	T	7: 55,583,089 (GRCm39)	W219R	probably damaging	Het
Oas2	A	C	5: 120,887,775 (GRCm39)	S22A	unknown	Het
Obscn	A	G	11: 59,022,483 (GRCm39)	V754A	probably benign	Het
Or4a76	G	A	2: 89,461,012 (GRCm39)	P77S	probably damaging	Het
Osbpl1a	C	T	18: 13,066,642 (GRCm39)	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,612,606 (GRCm39)	Y522F	probably benign	Het
Pced1a	T	G	2: 130,261,744 (GRCm39)	D303A	possibly damaging	Het
Peli1	T	A	11: 21,098,190 (GRCm39)	Y308*	probably null	Het
Pfas	T	A	11: 68,879,481 (GRCm39)	R243W		Het
Pik3r5	C	A	11: 68,383,416 (GRCm39)	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,852,428 (GRCm39)	I1135N		Het
Prune1	C	A	3: 95,189,021 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,587,564 (GRCm39)	K926N	probably damaging	Het
Ptpre	A	G	7: 135,269,329 (GRCm39)	N277S	probably benign	Het
Raver2	A	T	4: 100,964,410 (GRCm39)	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,980,857 (GRCm39)	V187A	probably benign	Het
Rgs3	A	G	4: 62,543,391 (GRCm39)	E242G	probably benign	Het
Rims2	T	G	15: 39,381,235 (GRCm39)	S1055R	probably benign	Het
Rnf146	T	C	10: 29,223,640 (GRCm39)	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,378,016 (GRCm39)	S455G	probably benign	Het
Samm50	T	C	15: 84,080,057 (GRCm39)		probably null	Het
Sh3bgr	A	G	16: 96,007,122 (GRCm39)	K31E	probably benign	Het
Slc39a8	T	C	3: 135,592,672 (GRCm39)	I449T	probably damaging	Het
Slc5a3	A	T	16: 91,875,905 (GRCm39)	Y654F	probably benign	Het
Spata1	T	A	3: 146,181,977 (GRCm39)	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,838,512 (GRCm39)		probably benign	Het
Stard13	A	C	5: 150,971,064 (GRCm39)	S848A	probably damaging	Het
Stat2	A	G	10: 128,112,434 (GRCm39)	S25G	possibly damaging	Het
Tet2	C	T	3: 133,186,050 (GRCm39)	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,563,384 (GRCm39)	T670A	probably benign	Het
Tmem266	T	C	9: 55,303,883 (GRCm39)	L3P	unknown	Het
Tns3	A	T	11: 8,442,793 (GRCm39)	D523E	probably benign	Het
Trim3	A	T	7: 105,267,015 (GRCm39)	S455T	probably damaging	Het
Trim31	T	C	17: 37,220,554 (GRCm39)	V490A	probably damaging	Het
Trmt11	A	C	10: 30,466,039 (GRCm39)	N168K	probably benign	Het
Trpc4	G	A	3: 54,198,653 (GRCm39)	V526M	probably damaging	Het
Ttn	C	A	2: 76,749,482 (GRCm39)	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,169,227 (GRCm39)	D377N	probably damaging	Het
Ubl7	A	G	9: 57,821,875 (GRCm39)	T75A	probably damaging	Het
Ugt2b34	T	G	5: 87,049,134 (GRCm39)	D297A	possibly damaging	Het
Usp34	A	T	11: 23,314,458 (GRCm39)	H800L	possibly damaging	Het
Utp3	C	A	5: 88,703,412 (GRCm39)	L314M	probably damaging	Het
Zer1	A	G	2: 30,003,337 (GRCm39)	Y27H	probably damaging	Het

Other mutations in Ndufa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01715:Ndufa7	APN	17	34,057,122 (GRCm39)	missense	probably benign
IGL01765:Ndufa7	APN	17	34,048,786 (GRCm39)	nonsense	probably null
IGL02902:Ndufa7	APN	17	34,048,632 (GRCm39)	splice site	probably benign
R4799:Ndufa7	UTSW	17	34,057,187 (GRCm39)	utr 3 prime	probably benign
R5023:Ndufa7	UTSW	17	34,043,577 (GRCm39)	unclassified	probably benign
R7302:Ndufa7	UTSW	17	34,048,687 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTGCTCTTACCCACTGAACC -3'
(R):5'- AGCATGTATTCACACACCCGG -3'

Sequencing Primer
(F):5'- TTACCCACTGAACCATCTCGC -3'
(R):5'- GCACACAGTAATATCAAATCCAATCG -3'

Posted On

2019-10-07