Mutagenetix > Incidental Mutation

Incidental Mutation 'R2873:Ndufs1'

260372

Institutional Source

Beutler Lab

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH:ubiquinone oxidoreductase core subunit S1

Synonyms

9930026A05Rik, 5830412M15Rik

MMRRC Submission

040461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63182751-63215981 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 63203882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139664 (fasta)

Gene Model

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

AlphaFold

Q91VD9

Predicted Effect

probably benign
Transcript: ENSMUST00000027111

SMART Domains

Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968

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

SMART Domains

Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968

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: ENSMUST00000185412

SMART Domains

Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968

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

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: 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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (81/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Acvr1	G	A	2: 58,367,808 (GRCm39)	Q118*	probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd40	T	C	11: 94,224,771 (GRCm39)	V60A	possibly damaging	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp13a2	T	C	4: 140,730,294 (GRCm39)	I773T	probably benign	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Ccdc162	G	T	10: 41,531,095 (GRCm39)	T537N	possibly damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd101	A	T	3: 100,911,164 (GRCm39)	D831E	probably benign	Het
Ch25h	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Chek2	C	A	5: 111,011,202 (GRCm39)	Y333*	probably null	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Flnc	A	G	6: 29,447,542 (GRCm39)	D1115G	probably damaging	Het
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm5519	A	C	19: 33,802,410 (GRCm39)	D151A	possibly damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notch1	A	G	2: 26,350,247 (GRCm39)	C2298R	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pms2	G	A	5: 143,848,732 (GRCm39)		probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Ptger4	T	C	15: 5,264,286 (GRCm39)	R457G	probably benign	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Ralgds	A	G	2: 28,438,781 (GRCm39)		probably null	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Sgk2	A	G	2: 162,836,449 (GRCm39)		probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc4a4	G	T	5: 89,283,623 (GRCm39)	V481L	probably damaging	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Slit3	G	T	11: 35,435,620 (GRCm39)	E184*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tet2	C	T	3: 133,192,715 (GRCm39)	G573E	probably damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Usp9y	T	A	Y: 1,310,502 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	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
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
R4993:Ndufs1	UTSW	1	63,202,935 (GRCm39)	missense	probably benign
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'- TCATTTCCAGTGTTGTTATTCGAAG -3'
(R):5'- AGCAGCATTAGATTGACTGTCTC -3'

Sequencing Primer
(F):5'- TAACATATCAAAGTGGGCCTGGTCC -3'
(R):5'- GTCTCGTAATCTACTTAAGGACCAG -3'

Posted On

2015-01-23