Mutagenetix > Incidental Mutation

Incidental Mutation 'R4993:Ndufs1'

384963

Institutional Source

Beutler Lab

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH:ubiquinone oxidoreductase core subunit S1

Synonyms

9930026A05Rik, 5830412M15Rik

MMRRC Submission

042587-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63182751-63215981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63202935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 210 (I210V)

Ref Sequence

ENSEMBL: ENSMUSP00000126621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027111] [ENSMUST00000168099] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000188370]

AlphaFold

Q91VD9

Predicted Effect

probably benign
Transcript: ENSMUST00000027111
AA Change: I210V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: I210V

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	107	8.5e-20	PFAM
Pfam:Fer2	34	97	1e-11	PFAM
NADH-G_4Fe-4S_3	113	153	6.5e-19	SMART
Pfam:Molybdopterin	301	629	1e-76	PFAM
Pfam:NADH_dhqG_C	658	710	1.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140612

Predicted Effect

probably benign
Transcript: ENSMUST00000168099
AA Change: I210V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: I210V

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	107	4.3e-19	PFAM
Pfam:Fer2	34	97	1e-11	PFAM
NADH-G_4Fe-4S_3	113	153	6.5e-19	SMART
Pfam:Molybdopterin	301	629	1e-76	PFAM
Pfam:DUF1982	657	710	3.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185732

SMART Domains

Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	107	4.4e-18	PFAM
Pfam:Fer2	34	97	6.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185827

Predicted Effect

probably benign
Transcript: ENSMUST00000185847

SMART Domains

Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Molybdopterin	1	60	5.7e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188370

SMART Domains

Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	96	1.1e-13	PFAM
Pfam:Fer2	34	127	1.2e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	Het

Other mutations in Ndufs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Ndufs1	APN	1	63,203,976 (GRCm39)	missense	probably damaging	0.99
IGL01655:Ndufs1	APN	1	63,190,716 (GRCm39)	missense	probably damaging	1.00
IGL02532:Ndufs1	APN	1	63,209,298 (GRCm39)	missense	probably damaging	0.99
IGL02606:Ndufs1	APN	1	63,199,011 (GRCm39)	missense	probably damaging	1.00
IGL02866:Ndufs1	APN	1	63,186,300 (GRCm39)	missense	probably benign	0.00
IGL03036:Ndufs1	APN	1	63,202,855 (GRCm39)	nonsense	probably null
IGL03209:Ndufs1	APN	1	63,203,896 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Ndufs1	UTSW	1	63,198,907 (GRCm39)	unclassified	probably benign
R0165:Ndufs1	UTSW	1	63,198,907 (GRCm39)	critical splice donor site	probably null
R0505:Ndufs1	UTSW	1	63,183,085 (GRCm39)	splice site	probably benign
R1861:Ndufs1	UTSW	1	63,186,576 (GRCm39)	missense	probably benign	0.17
R2294:Ndufs1	UTSW	1	63,200,155 (GRCm39)	missense	probably damaging	1.00
R2872:Ndufs1	UTSW	1	63,203,882 (GRCm39)	splice site	probably benign
R2873:Ndufs1	UTSW	1	63,203,882 (GRCm39)	splice site	probably benign
R4092:Ndufs1	UTSW	1	63,196,405 (GRCm39)	missense	possibly damaging	0.55
R4277:Ndufs1	UTSW	1	63,209,256 (GRCm39)	missense	possibly damaging	0.84
R4782:Ndufs1	UTSW	1	63,200,108 (GRCm39)	missense	probably damaging	1.00
R4799:Ndufs1	UTSW	1	63,200,108 (GRCm39)	missense	probably damaging	1.00
R5051:Ndufs1	UTSW	1	63,204,106 (GRCm39)	critical splice donor site	probably null
R5412:Ndufs1	UTSW	1	63,205,508 (GRCm39)	missense	possibly damaging	0.79
R5632:Ndufs1	UTSW	1	63,189,218 (GRCm39)	missense	probably benign	0.00
R5705:Ndufs1	UTSW	1	63,186,317 (GRCm39)	missense	probably benign	0.05
R5854:Ndufs1	UTSW	1	63,186,548 (GRCm39)	missense	probably benign	0.05
R5919:Ndufs1	UTSW	1	63,182,991 (GRCm39)	makesense	probably null
R6598:Ndufs1	UTSW	1	63,204,109 (GRCm39)	missense	probably null	1.00
R7716:Ndufs1	UTSW	1	63,192,016 (GRCm39)	missense	possibly damaging	0.95
R7744:Ndufs1	UTSW	1	63,200,099 (GRCm39)	missense	possibly damaging	0.89
R7785:Ndufs1	UTSW	1	63,186,558 (GRCm39)	missense	probably damaging	0.98
R8108:Ndufs1	UTSW	1	63,189,171 (GRCm39)	missense	possibly damaging	0.47
R8200:Ndufs1	UTSW	1	63,209,331 (GRCm39)	splice site	probably null
R8491:Ndufs1	UTSW	1	63,196,384 (GRCm39)	missense	probably damaging	1.00
R9007:Ndufs1	UTSW	1	63,198,878 (GRCm39)	unclassified	probably benign
R9179:Ndufs1	UTSW	1	63,209,274 (GRCm39)	missense	probably benign	0.01
Z1176:Ndufs1	UTSW	1	63,202,995 (GRCm39)	missense	probably damaging	1.00
Z1177:Ndufs1	UTSW	1	63,208,410 (GRCm39)	frame shift	probably null
Z1177:Ndufs1	UTSW	1	63,202,967 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTCCAAATATACCTGTATACATCC -3'
(R):5'- GTGTGTTACACTTCAGTTTCAGAG -3'

Sequencing Primer
(F):5'- CTGTATACATCCAGGGGCAC -3'
(R):5'- CACTTCAGTTTCAGAGAAAAATTCAC -3'

Posted On

2016-05-10