Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Ndufs7'

345546

Institutional Source

Beutler Lab

Gene Symbol

Ndufs7

Ensembl Gene

ENSMUSG00000020153

Gene Name

NADH:ubiquinone oxidoreductase core subunit S7

Synonyms

1010001M04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80084955-80092628 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80092501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 203 (Y203*)

Ref Sequence

ENSEMBL: ENSMUSP00000101003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020359] [ENSMUST00000020361] [ENSMUST00000105363] [ENSMUST00000105364] [ENSMUST00000156935]

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
AA Change: Y203*

SMART Domains

Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153
AA Change: Y203*

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
AA Change: Y203*

SMART Domains

Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153
AA Change: Y203*

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

noncoding transcript
Transcript: ENSMUST00000144798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155336

Predicted Effect

probably benign
Transcript: ENSMUST00000156935

SMART Domains

Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565

Domain	Start	End	E-Value	Type
RRM	3	75	1.89e-24	SMART
RRM	105	171	6.71e-16	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,037 (GRCm39)	F145L	possibly damaging	Het
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Ago1	C	A	4: 126,354,185 (GRCm39)	M208I	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Amfr	A	G	8: 94,700,849 (GRCm39)	L537P	probably damaging	Het
Apob	A	G	12: 8,058,568 (GRCm39)	D2317G	probably damaging	Het
Asb6	T	A	2: 30,714,483 (GRCm39)	D209V	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Baz2a	T	A	10: 127,957,052 (GRCm39)	C932S	probably damaging	Het
Btnl10	A	G	11: 58,814,426 (GRCm39)	I369V	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clic4	A	T	4: 134,966,300 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,709,626 (GRCm39)	S1857P	unknown	Het
Cracr2a	A	C	6: 127,580,851 (GRCm39)	D9A	probably benign	Het
Cspg4b	A	G	13: 113,455,783 (GRCm39)	R610G	possibly damaging	Het
Dcst1	T	C	3: 89,263,643 (GRCm39)	E384G	probably benign	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah3	T	A	7: 119,689,169 (GRCm39)	M82L	probably benign	Het
Dnhd1	G	T	7: 105,352,851 (GRCm39)	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,831,126 (GRCm39)	G596D	probably benign	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Fam181b	C	A	7: 92,729,992 (GRCm39)	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,372,924 (GRCm39)	D178E	probably benign	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,327,723 (GRCm39)	K54*	probably null	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705 (GRCm39)	A1569T	probably damaging	Het
Grik5	C	G	7: 24,767,489 (GRCm39)	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,805,302 (GRCm39)	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,126,994 (GRCm39)	A160P	possibly damaging	Het
Hydin	A	T	8: 111,293,582 (GRCm39)	T3510S	probably benign	Het
Ift70a1	T	C	2: 75,810,977 (GRCm39)	T369A	probably benign	Het
Itgb2	A	G	10: 77,381,949 (GRCm39)	I84V	probably benign	Het
Itsn1	A	G	16: 91,696,475 (GRCm39)	Q26R	probably damaging	Het
Kat6a	A	G	8: 23,429,327 (GRCm39)	S1561G	probably benign	Het
Khnyn	G	A	14: 56,124,438 (GRCm39)	V231I	probably benign	Het
Kif21b	A	G	1: 136,075,602 (GRCm39)	D243G	probably benign	Het
Klk4	T	A	7: 43,534,762 (GRCm39)	N240K	probably damaging	Het
Knl1	T	C	2: 118,901,025 (GRCm39)	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,373,528 (GRCm39)	D1419A	probably benign	Het
Lin9	T	A	1: 180,508,759 (GRCm39)	V421D	probably damaging	Het
Lipt2	T	C	7: 99,809,519 (GRCm39)	L202P	probably benign	Het
Mbd5	T	G	2: 49,147,209 (GRCm39)	M473R	probably benign	Het
Mcc	A	T	18: 44,652,587 (GRCm39)	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mylk2	G	A	2: 152,759,476 (GRCm39)	V389M	probably damaging	Het
Nup160	T	A	2: 90,515,541 (GRCm39)		probably null	Het
Nup88	G	A	11: 70,860,522 (GRCm39)	R62*	probably null	Het
Or2g7	T	C	17: 38,378,853 (GRCm39)	S264P	probably damaging	Het
Or51af1	T	A	7: 103,141,788 (GRCm39)	Q99L	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Or8g33	A	G	9: 39,337,731 (GRCm39)	M212T	probably benign	Het
Os9	T	C	10: 126,934,223 (GRCm39)	N471S	probably benign	Het
Otof	C	T	5: 30,529,244 (GRCm39)	V1757M	probably damaging	Het
Pakap	A	T	4: 57,709,954 (GRCm39)	T300S	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pappa2	G	A	1: 158,642,015 (GRCm39)	S1347L	probably damaging	Het
Pccb	T	C	9: 100,916,832 (GRCm39)	T27A	probably benign	Het
Pde4dip	A	T	3: 97,603,260 (GRCm39)	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,571,254 (GRCm39)	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,070,120 (GRCm39)	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886 (GRCm39)	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,278,869 (GRCm39)	L301P	probably damaging	Het
Spg21	A	G	9: 65,383,257 (GRCm39)	T148A	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Sult1c2	C	A	17: 54,280,983 (GRCm39)	W40L	probably benign	Het
Sytl2	T	C	7: 90,024,977 (GRCm39)	S322P	probably benign	Het
Telo2	C	A	17: 25,324,122 (GRCm39)	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,131,897 (GRCm39)	V719A	probably damaging	Het
Tlr9	T	A	9: 106,101,732 (GRCm39)	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,024,548 (GRCm39)	N230D	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpo	C	T	12: 30,148,228 (GRCm39)	V558M	probably benign	Het
Trex1	T	G	9: 108,887,352 (GRCm39)	Q213P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,066,586 (GRCm39)	K131E	probably benign	Het
Vipr1	T	A	9: 121,494,202 (GRCm39)		probably null	Het
Vmn1r22	T	C	6: 57,877,860 (GRCm39)	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,522,046 (GRCm39)	C17S	probably benign	Het
Vps41	T	C	13: 18,929,453 (GRCm39)	Y63H	probably damaging	Het
Xdh	G	T	17: 74,217,195 (GRCm39)	T691N	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het
Zfp536	T	A	7: 37,267,918 (GRCm39)	K499N	probably damaging	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	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
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
R7732:Ndufs7	UTSW	10	80,089,618 (GRCm39)	critical splice donor site	probably null
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'- CTTTTCCCTGTGGAGCCATG -3'
(R):5'- TCAAGAGCCAGGAGTGATCAC -3'

Sequencing Primer
(F):5'- CCATGGACAGCTCAGGGATG -3'
(R):5'- CACAGAGGGTGCAGGACCTG -3'

Posted On

2015-09-25