Mutagenetix > Incidental Mutation

Incidental Mutation 'R7732:Ndufs7'

595919

Institutional Source

Beutler Lab

Gene Symbol

Ndufs7

Ensembl Gene

ENSMUSG00000020153

Gene Name

NADH:ubiquinone oxidoreductase core subunit S7

Synonyms

1010001M04Rik

MMRRC Submission

045788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80084955-80092628 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 80089618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020359] [ENSMUST00000020361] [ENSMUST00000105363] [ENSMUST00000105364]

AlphaFold

Q9DC70

Predicted Effect

probably benign
Transcript: ENSMUST00000020359

SMART Domains

Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150

Domain	Start	End	E-Value	Type
PDB:1XCL\|A	2	252	1e-151	PDB
SCOP:d1khha_	44	252	3e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000020361

SMART Domains

Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
Pfam:Oxidored_q6	98	208	1.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105363

SMART Domains

Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150

Domain	Start	End	E-Value	Type
PDB:1XCL\|A	2	236	1e-155	PDB
SCOP:d1khha_	44	236	2e-34	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105364

SMART Domains

Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
Pfam:Oxidored_q6	98	208	1.9e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,075,451 (GRCm39)	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,478,041 (GRCm39)	M69V		Het
Ap3m2	G	T	8: 23,287,105 (GRCm39)	D192E	probably benign	Het
Arel1	A	G	12: 84,974,663 (GRCm39)	V493A	probably benign	Het
Arhgap27	T	C	11: 103,230,869 (GRCm39)	H140R	probably benign	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Brd4	C	A	17: 32,440,386 (GRCm39)	A318S	unknown	Het
Cabp4	T	A	19: 4,185,994 (GRCm39)	T270S	probably benign	Het
Cd22	G	A	7: 30,569,482 (GRCm39)	R545C	probably damaging	Het
Cdc23	C	A	18: 34,769,755 (GRCm39)		probably null	Het
Chst4	G	A	8: 110,756,514 (GRCm39)	Q450*	probably null	Het
Ctsc	G	A	7: 87,946,367 (GRCm39)	R132Q	probably damaging	Het
Cyp2b19	A	G	7: 26,470,769 (GRCm39)	D470G	possibly damaging	Het
Dcc	C	T	18: 71,579,506 (GRCm39)	G689D	probably benign	Het
Disc1	G	T	8: 125,977,714 (GRCm39)	G779*	probably null	Het
Dock1	T	G	7: 134,346,699 (GRCm39)	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,365,220 (GRCm39)	V14A	probably benign	Het
Dynlt2a3	A	G	17: 15,187,947 (GRCm39)	V109A	probably benign	Het
Epha10	A	G	4: 124,809,092 (GRCm39)	D779G		Het
Eprs1	A	G	1: 185,105,136 (GRCm39)	H137R	probably benign	Het
Eps15l1	A	C	8: 73,134,820 (GRCm39)	L447R	probably damaging	Het
Esyt1	A	G	10: 128,357,694 (GRCm39)		probably null	Het
Fam221a	A	G	6: 49,349,563 (GRCm39)	K43E	probably benign	Het
Fanci	A	G	7: 79,062,400 (GRCm39)	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,903,601 (GRCm39)	W76R	probably damaging	Het
Fgd4	A	G	16: 16,302,459 (GRCm39)	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287 (GRCm39)	D365V	unknown	Het
Gabrd	C	T	4: 155,470,075 (GRCm39)	R378H	probably benign	Het
Greb1	A	G	12: 16,723,864 (GRCm39)	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436 (GRCm39)	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,474,692 (GRCm39)	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,220,415 (GRCm39)	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,659,852 (GRCm39)	V412A	probably damaging	Het
Igsf11	A	G	16: 38,829,160 (GRCm39)	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,603,358 (GRCm39)	M263I	probably benign	Het
Ms4a14	C	T	19: 11,279,047 (GRCm39)	M1170I	probably benign	Het
Nectin4	A	T	1: 171,214,246 (GRCm39)	E467V	probably benign	Het
Or8d1b	A	G	9: 38,887,560 (GRCm39)	E196G	probably damaging	Het
Otogl	G	A	10: 107,642,525 (GRCm39)	H1302Y	probably benign	Het
Pigg	A	G	5: 108,466,841 (GRCm39)	S241G	probably benign	Het
Pip4p1	C	T	14: 51,168,090 (GRCm39)	G48D	possibly damaging	Het
Pom121l12	T	A	11: 14,549,843 (GRCm39)	V183D	probably damaging	Het
Prickle2	T	A	6: 92,388,205 (GRCm39)	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,620,532 (GRCm39)	V488G	probably benign	Het
Ranbp10	A	G	8: 106,499,723 (GRCm39)	I502T	probably benign	Het
Raph1	T	A	1: 60,572,447 (GRCm39)	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 33,152,590 (GRCm39)	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,853,082 (GRCm39)	N158S	probably benign	Het
Serping1	A	T	2: 84,600,448 (GRCm39)	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,414,196 (GRCm39)	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,234,753 (GRCm39)	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,680,472 (GRCm39)	T129A	probably benign	Het
Slit1	T	A	19: 41,592,847 (GRCm39)	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,786,656 (GRCm39)	S130P	probably damaging	Het
Sulf1	A	G	1: 12,913,013 (GRCm39)	D749G	probably benign	Het
Taok3	A	G	5: 117,331,813 (GRCm39)	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,923,136 (GRCm39)	A368D	probably benign	Het
Tdh	T	A	14: 63,733,507 (GRCm39)	H127L	probably damaging	Het
Tmem205	C	A	9: 21,838,703 (GRCm39)		probably null	Het
Tmem30a	A	C	9: 79,687,826 (GRCm39)	F114L	possibly damaging	Het
Tmprss15	T	C	16: 78,800,308 (GRCm39)	K607E	probably benign	Het
Tnxb	A	T	17: 34,913,254 (GRCm39)	D1756V	probably damaging	Het
Trhde	A	G	10: 114,623,969 (GRCm39)	F312L	probably benign	Het
Ttn	G	A	2: 76,656,793 (GRCm39)	P12494L	probably null	Het
Vmn2r61	A	G	7: 41,916,097 (GRCm39)	R237G	probably benign	Het
Vps13c	A	T	9: 67,847,798 (GRCm39)	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,617,495 (GRCm39)	T692A	probably benign	Het
Whamm	A	G	7: 81,221,172 (GRCm39)	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,335 (GRCm39)	S105G	probably damaging	Het
Zfp108	T	A	7: 23,960,952 (GRCm39)	H514Q	probably benign	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Znfx1	T	C	2: 166,884,589 (GRCm39)	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,154,479 (GRCm39)	Y577H	probably damaging	Het

Other mutations in Ndufs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Ndufs7	APN	10	80,091,839 (GRCm39)	nonsense	probably null
IGL00940:Ndufs7	APN	10	80,090,955 (GRCm39)	missense	probably damaging	0.98
BB007:Ndufs7	UTSW	10	80,089,619 (GRCm39)	critical splice donor site	probably null
BB017:Ndufs7	UTSW	10	80,089,619 (GRCm39)	critical splice donor site	probably null
R0539:Ndufs7	UTSW	10	80,090,665 (GRCm39)	splice site	probably benign
R1727:Ndufs7	UTSW	10	80,091,853 (GRCm39)	splice site	probably benign
R3714:Ndufs7	UTSW	10	80,088,255 (GRCm39)	missense	probably benign	0.00
R4600:Ndufs7	UTSW	10	80,092,501 (GRCm39)	nonsense	probably null
R4603:Ndufs7	UTSW	10	80,092,501 (GRCm39)	nonsense	probably null
R5437:Ndufs7	UTSW	10	80,090,758 (GRCm39)	missense	possibly damaging	0.63
R7604:Ndufs7	UTSW	10	80,089,531 (GRCm39)	missense	probably benign	0.00
R7930:Ndufs7	UTSW	10	80,089,619 (GRCm39)	critical splice donor site	probably null
R8898:Ndufs7	UTSW	10	80,089,619 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGGACCTCAGGGATGATG -3'
(R):5'- GGAAGTTCCAAGGCAAACAAATTC -3'

Sequencing Primer
(F):5'- ACCTCAGGGATGATGTGGTTC -3'
(R):5'- CAGATCCTGGAACCCATGTGTTG -3'

Posted On

2019-11-12