Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Ndufs7'

345798

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 #

R4603 (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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,029,019 (GRCm39)	V60A	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,798 (GRCm39)	V397A	probably benign	Het
Afg3l1	A	G	8: 124,228,674 (GRCm39)	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,370,740 (GRCm39)	S408P	probably damaging	Het
Ank2	T	C	3: 126,825,665 (GRCm39)	T445A	probably benign	Het
Antxrl	A	G	14: 33,797,792 (GRCm39)	E589G	possibly damaging	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bpnt2	T	C	4: 4,767,878 (GRCm39)	I299M	probably damaging	Het
Brca2	T	A	5: 150,459,630 (GRCm39)	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,058,226 (GRCm39)	M4K	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cdc73	T	C	1: 143,553,595 (GRCm39)		probably null	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cse1l	T	C	2: 166,786,452 (GRCm39)	V604A	probably benign	Het
Cxcr1	G	C	1: 74,231,896 (GRCm39)	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erp27	A	G	6: 136,896,947 (GRCm39)	V85A	probably damaging	Het
Fam3d	T	A	14: 8,358,429 (GRCm38)	S57C	probably damaging	Het
Fgf8	T	G	19: 45,726,592 (GRCm39)	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,851,401 (GRCm39)	V106D	probably damaging	Het
Gaa	T	C	11: 119,169,784 (GRCm39)	W613R	probably damaging	Het
Gabarap	A	G	11: 69,885,287 (GRCm39)	N66S	probably benign	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,629,969 (GRCm39)	Y48C	probably damaging	Het
Iqcg	C	T	16: 32,861,134 (GRCm39)	R194K	probably null	Het
Iqcg	C	G	16: 32,861,133 (GRCm39)		probably null	Het
Kcnj3	C	T	2: 55,336,991 (GRCm39)	R286*	probably null	Het
Klhl38	T	A	15: 58,186,616 (GRCm39)	I38F	possibly damaging	Het
Kmo	C	A	1: 175,479,208 (GRCm39)	P248Q	probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mprip	T	C	11: 59,622,399 (GRCm39)	V162A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,078,571 (GRCm39)	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,892,539 (GRCm39)	T59A	probably benign	Het
Ndufb7	A	G	8: 84,293,494 (GRCm39)	E16G	probably damaging	Het
Nploc4	C	T	11: 120,276,613 (GRCm39)	V478I	probably benign	Het
Nrap	A	G	19: 56,323,456 (GRCm39)		probably null	Het
Or5e1	A	T	7: 108,354,834 (GRCm39)	Y257F	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pdss2	T	C	10: 43,248,197 (GRCm39)	S234P	probably damaging	Het
Pias2	T	A	18: 77,217,803 (GRCm39)	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,682,861 (GRCm39)	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 66,120,459 (GRCm39)	C181G	probably damaging	Het
Pramel27	T	A	4: 143,579,451 (GRCm39)	H345Q	probably benign	Het
Prkdc	G	A	16: 15,628,688 (GRCm39)	E3478K	probably damaging	Het
Prpf4b	T	C	13: 35,072,147 (GRCm39)		probably benign	Het
Psme3	T	A	11: 101,208,435 (GRCm39)		probably null	Het
Ptpre	C	A	7: 135,269,372 (GRCm39)	Y284*	probably null	Het
Scnn1a	A	G	6: 125,299,123 (GRCm39)	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Shc2	T	C	10: 79,459,690 (GRCm39)	D418G	probably benign	Het
Sidt1	A	T	16: 44,075,389 (GRCm39)	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorcs1	A	G	19: 50,301,402 (GRCm39)		probably null	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tmem270	C	A	5: 134,930,482 (GRCm39)	E260*	probably null	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Trim46	A	G	3: 89,150,958 (GRCm39)	F188S	probably benign	Het
Trim7	T	A	11: 48,728,355 (GRCm39)	M1K	probably null	Het
Txnip	A	G	3: 96,465,604 (GRCm39)	E18G	probably benign	Het
Usp34	A	G	11: 23,414,633 (GRCm39)	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,477,647 (GRCm39)	I255F	probably benign	Het
Xkr5	T	A	8: 18,983,733 (GRCm39)	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,637,570 (GRCm39)	A497V	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	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
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'- TTTTCCCTGTGGAGCCATGG -3'
(R):5'- CTCAAGAGCCAGGAGTGATCAC -3'

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

Posted On

2015-09-25