Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02532:Ndufs1'

297360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH dehydrogenase (ubiquinone) Fe-S protein 1

Synonyms

9930026A05Rik, 5830412M15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

63143596-63176833 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63170139 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 22 (R22C)

Ref Sequence

ENSEMBL: ENSMUSP00000140467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027111] [ENSMUST00000168099] [ENSMUST00000185412] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000188370] [ENSMUST00000189664]

Predicted Effect

probably benign
Transcript: ENSMUST00000027111
AA Change: R22C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: R22C

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: ENSMUST00000140612

Predicted Effect

probably benign
Transcript: ENSMUST00000168099
AA Change: R22C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: R22C

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 damaging
Transcript: ENSMUST00000185412
AA Change: R22C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968
AA Change: R22C

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	79	5.3e-10	PFAM
Pfam:Fer2	34	79	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185732
AA Change: R22C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968
AA Change: R22C

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
AA Change: R22C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968
AA Change: R22C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189664

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,164,790	S424R	probably damaging	Het
2200002D01Rik	T	C	7: 29,248,220	K15E	possibly damaging	Het
Abca2	A	G	2: 25,435,136	T381A	probably benign	Het
Adcy1	T	A	11: 7,144,737	N554K	probably benign	Het
Adcy5	A	G	16: 35,272,083	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,833,676	S754*	probably null	Het
Arhgef28	T	A	13: 98,029,883	D319V	probably damaging	Het
Brca2	A	G	5: 150,550,862	D2410G	probably damaging	Het
Carmil2	T	A	8: 105,692,431		probably null	Het
Catip	A	G	1: 74,364,616	N189S	probably damaging	Het
Cd177	T	C	7: 24,745,249	K636E	probably benign	Het
Cep290	A	G	10: 100,545,065	T145A	probably benign	Het
Cthrc1	T	C	15: 39,077,165		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fas	C	A	19: 34,316,599	T118N	probably damaging	Het
Fgd3	G	A	13: 49,285,761	A253V	probably damaging	Het
Fig4	A	G	10: 41,285,281		probably benign	Het
Fubp3	T	C	2: 31,600,559		probably benign	Het
Gria2	T	A	3: 80,706,999	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,720,077	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,813,874		probably benign	Het
Ighv6-5	T	A	12: 114,416,804	D50V	probably benign	Het
Inpp5k	T	C	11: 75,633,184		probably benign	Het
Kalrn	T	C	16: 34,360,846	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,126,536	T389A	probably benign	Het
Klhl6	C	A	16: 19,957,082	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,586,889		probably benign	Het
Krt13	A	T	11: 100,119,369	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,720,591	S297P	probably benign	Het
Nlrp5	T	A	7: 23,409,973	S115T	possibly damaging	Het
Pfpl	A	T	19: 12,428,845	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Psme1	T	A	14: 55,581,138	Y223*	probably null	Het
R3hdm1	T	C	1: 128,197,099		probably null	Het
Rnf103	A	G	6: 71,509,825	D480G	probably benign	Het
Rnf103	T	G	6: 71,509,652	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,255,966	V213A	probably damaging	Het
Sort1	G	T	3: 108,325,720	K203N	probably benign	Het
Sugp1	A	T	8: 70,059,819	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,416,258	R176K	probably benign	Het
Usp34	T	A	11: 23,370,291	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,957,150	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,328,813	T303K	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
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
R4993:Ndufs1	UTSW	1	63163776	missense	probably benign
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

Posted On

2015-04-16