Mutagenetix > Incidental Mutations

Incidental Mutation 'R4993:Ndufs1'

384963

Institutional Source

Beutler Lab

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH dehydrogenase (ubiquinone) Fe-S protein 1

Synonyms

9930026A05Rik, 5830412M15Rik

MMRRC Submission

042587-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63143596-63176833 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63163776 bp

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]

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: 30,426,349	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 40,880,161	Q126K	probably benign	Het
Abca15	C	A	7: 120,401,718	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,918,040	D402N	probably damaging	Het
Akap11	A	G	14: 78,512,968	F660L	probably damaging	Het
Bcl3	T	C	7: 19,820,177	T89A	probably benign	Het
Bub1b	T	C	2: 118,636,770	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,476,218	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,618,329	D202V	probably damaging	Het
Dip2c	T	G	13: 9,575,223	Y584*	probably null	Het
Dpf3	A	T	12: 83,331,861		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Emid1	G	T	11: 5,131,512	Q212K	probably benign	Het
Esm1	C	T	13: 113,213,399	Q118*	probably null	Het
Fahd2a	T	G	2: 127,436,364	I308L	probably benign	Het
Fam208a	T	A	14: 27,429,114	W16R	possibly damaging	Het
Fanci	T	C	7: 79,435,378	*851Q	probably null	Het
Fastkd1	C	A	2: 69,702,740	V428F	probably damaging	Het
Fat2	A	T	11: 55,283,092	I2265N	probably damaging	Het
Gale	C	A	4: 135,966,860	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,372,254	V153E	possibly damaging	Het
Gm10696	C	T	3: 94,176,316	G63R	probably damaging	Het
Gpc6	A	G	14: 117,624,539	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,300,711	Y153F	probably damaging	Het
Ints3	T	C	3: 90,415,507	T139A	probably benign	Het
Irf2bp2	A	G	8: 126,592,671	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,312,537	H117P	probably damaging	Het
Lpl	A	G	8: 68,895,793	K225E	probably benign	Het
Lrba	T	A	3: 86,360,037	V1678D	probably damaging	Het
Med1	A	T	11: 98,163,904	F398Y	probably damaging	Het
Mfap2	T	C	4: 141,015,578	*186Q	probably null	Het
Mfsd3	T	C	15: 76,701,982	L105P	probably damaging	Het
Mlxip	T	G	5: 123,395,294	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,396,398	Y107F	probably damaging	Het
Mtg1	G	T	7: 140,140,283	D88Y	probably null	Het
Mutyh	T	A	4: 116,817,935	S426R	probably benign	Het
Myo16	C	T	8: 10,476,094	T878I	probably damaging	Het
Myo9a	T	A	9: 59,861,472	Y912*	probably null	Het
Ncor1	A	C	11: 62,343,341	I669R	probably damaging	Het
Nek9	A	G	12: 85,310,420	C657R	probably damaging	Het
Noct	C	T	3: 51,250,021	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,498,180	M102K	probably benign	Het
Obscn	G	A	11: 59,124,761	R1054C	possibly damaging	Het
Olfr1124	T	A	2: 87,435,152	F222I	probably benign	Het
Olfr352	C	A	2: 36,869,988	Q141K	probably benign	Het
Olfr47	A	G	6: 43,236,456	M283V	possibly damaging	Het
Olfr501-ps1	G	A	7: 108,508,243	M62I	probably damaging	Het
Olfr615	T	A	7: 103,561,317	I280N	possibly damaging	Het
Olfr619	A	T	7: 103,603,656	M1L	probably benign	Het
Otol1	C	A	3: 70,018,878	Q129K	probably benign	Het
Otx1	A	T	11: 21,998,532		probably null	Het
Pcdhac2	C	A	18: 37,146,251	N761K	probably damaging	Het
Pde1c	A	T	6: 56,150,624	M452K	probably damaging	Het
Phkg2	T	C	7: 127,573,941	Y24H	probably damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Prg4	C	T	1: 150,460,681	C97Y	probably damaging	Het
Ptdss1	T	C	13: 66,945,288	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,447,311	K324E	probably damaging	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Riiad1	T	C	3: 94,472,863	T42A	probably benign	Het
Rims2	T	C	15: 39,454,445	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,263,032	S592Y	possibly damaging	Het
Scap	T	C	9: 110,378,390	L431P	probably damaging	Het
Siglec1	T	A	2: 131,073,361	I1437F	possibly damaging	Het
Skint1	T	C	4: 112,028,333		probably null	Het
Slc44a1	A	G	4: 53,543,644	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,434,869	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,175,061	S394R	probably damaging	Het
Socs1	A	G	16: 10,784,685	S63P	probably benign	Het
Sun1	T	G	5: 139,225,333	S20A	possibly damaging	Het
Tac4	A	T	11: 95,265,242	K50*	probably null	Het
Tcaf2	A	G	6: 42,642,640	I151T	probably damaging	Het
Tcf4	T	C	18: 69,681,769	V587A	probably damaging	Het
Ttc37	T	A	13: 76,182,936	M1495K	probably damaging	Het
Ttn	T	A	2: 76,740,909	K24801*	probably null	Het
Tuba3b	G	T	6: 145,621,273	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,139,673	I212L	probably benign	Het
Umodl1	A	G	17: 30,986,485	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,944,810	V183D	probably damaging	Het
Ush2a	A	G	1: 188,910,720	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,505,228	S121N	probably damaging	Het
Vmn1r47	A	G	6: 90,022,758	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,481,187	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,837,752	H573L	probably benign	Het
Xirp1	C	T	9: 120,018,792	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,439,029	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,316,401	K599N	probably damaging	Het
Zfp819	C	A	7: 43,617,296	T401K	probably benign	Het

Other mutations in Ndufs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Ndufs1	APN	1	63164817	missense	probably damaging	0.99
IGL01655:Ndufs1	APN	1	63151557	missense	probably damaging	1.00
IGL02532:Ndufs1	APN	1	63170139	missense	probably damaging	0.99
IGL02606:Ndufs1	APN	1	63159852	missense	probably damaging	1.00
IGL02866:Ndufs1	APN	1	63147141	missense	probably benign	0.00
IGL03036:Ndufs1	APN	1	63163696	nonsense	probably null
IGL03209:Ndufs1	APN	1	63164737	missense	probably damaging	1.00
PIT4142001:Ndufs1	UTSW	1	63159748	unclassified	probably benign
R0165:Ndufs1	UTSW	1	63159748	critical splice donor site	probably null
R0505:Ndufs1	UTSW	1	63143926	splice site	probably benign
R1861:Ndufs1	UTSW	1	63147417	missense	probably benign	0.17
R2294:Ndufs1	UTSW	1	63160996	missense	probably damaging	1.00
R2872:Ndufs1	UTSW	1	63164723	splice site	probably benign
R2873:Ndufs1	UTSW	1	63164723	splice site	probably benign
R4092:Ndufs1	UTSW	1	63157246	missense	possibly damaging	0.55
R4277:Ndufs1	UTSW	1	63170097	missense	possibly damaging	0.84
R4782:Ndufs1	UTSW	1	63160949	missense	probably damaging	1.00
R4799:Ndufs1	UTSW	1	63160949	missense	probably damaging	1.00
R5051:Ndufs1	UTSW	1	63164947	critical splice donor site	probably null
R5412:Ndufs1	UTSW	1	63166349	missense	possibly damaging	0.79
R5632:Ndufs1	UTSW	1	63150059	missense	probably benign	0.00
R5705:Ndufs1	UTSW	1	63147158	missense	probably benign	0.05
R5854:Ndufs1	UTSW	1	63147389	missense	probably benign	0.05
R5919:Ndufs1	UTSW	1	63143832	makesense	probably null
R6598:Ndufs1	UTSW	1	63164950	missense	probably null	1.00
R7716:Ndufs1	UTSW	1	63152857	missense	possibly damaging	0.95
R7744:Ndufs1	UTSW	1	63160940	missense	possibly damaging	0.89
R7785:Ndufs1	UTSW	1	63147399	missense	probably damaging	0.98
R8108:Ndufs1	UTSW	1	63150012	missense	possibly damaging	0.47
R8200:Ndufs1	UTSW	1	63170172	splice site	probably null
R8491:Ndufs1	UTSW	1	63157225	missense	probably damaging	1.00
Z1176:Ndufs1	UTSW	1	63163836	missense	probably damaging	1.00
Z1177:Ndufs1	UTSW	1	63163808	missense	probably damaging	1.00
Z1177:Ndufs1	UTSW	1	63169251	frame shift	probably null

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