Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Ndufs7'

428431

Institutional Source

Beutler Lab

Gene Symbol

Ndufs7

Ensembl Gene

ENSMUSG00000020153

Gene Name

NADH dehydrogenase (ubiquinone) Fe-S protein 7

Synonyms

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80249121-80256794 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80254924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 116 (R116C)

Ref Sequence

ENSEMBL: ENSMUSP00000101003 (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

possibly damaging
Transcript: ENSMUST00000020361
AA Change: R116C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153
AA Change: R116C

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

possibly damaging
Transcript: ENSMUST00000105364
AA Change: R116C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153
AA Change: R116C

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: ENSMUST00000155336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157063

Meta Mutation Damage Score

0.9689

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Ndufs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Ndufs7	APN	10	80256005	nonsense	probably null
IGL00940:Ndufs7	APN	10	80255121	missense	probably damaging	0.98
BB007:Ndufs7	UTSW	10	80253785	critical splice donor site	probably null
BB017:Ndufs7	UTSW	10	80253785	critical splice donor site	probably null
R0539:Ndufs7	UTSW	10	80254831	splice site	probably benign
R1727:Ndufs7	UTSW	10	80256019	splice site	probably benign
R3714:Ndufs7	UTSW	10	80252421	missense	probably benign	0.00
R4600:Ndufs7	UTSW	10	80256667	nonsense	probably null
R4603:Ndufs7	UTSW	10	80256667	nonsense	probably null
R7604:Ndufs7	UTSW	10	80253697	missense	probably benign	0.00
R7732:Ndufs7	UTSW	10	80253784	critical splice donor site	probably null
R7930:Ndufs7	UTSW	10	80253785	critical splice donor site	probably null
R8898:Ndufs7	UTSW	10	80253785	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCATGATGGCCAGAGCAGC -3'
(R):5'- TGGTCGTACACCTACAAGACAC -3'

Sequencing Primer
(F):5'- GGGTGCTACCTAGAGTCCTAG -3'
(R):5'- CACACAGGTCAGATAACTGCAGG -3'

Posted On

2016-09-01