Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Ndufs1'

594892

Institutional Source

Beutler Lab

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH:ubiquinone oxidoreductase core subunit S1

Synonyms

9930026A05Rik, 5830412M15Rik

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63182751-63215981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63192016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 437 (D437G)

Ref Sequence

ENSEMBL: ENSMUSP00000027111 (fasta)

Gene Model

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

AlphaFold

Q91VD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027111
AA Change: D437G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: D437G

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

possibly damaging
Transcript: ENSMUST00000168099
AA Change: D437G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: D437G

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: ENSMUST00000185847

SMART Domains

Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,162 (GRCm39)	C41Y	possibly damaging	Het
Abcg1	A	G	17: 31,328,493 (GRCm39)	I421V	probably benign	Het
Ank2	G	T	3: 126,736,815 (GRCm39)	T3023K	unknown	Het
Asb5	T	A	8: 55,038,021 (GRCm39)	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,386,902 (GRCm39)	V242I	probably benign	Het
Atp2a1	C	A	7: 126,061,359 (GRCm39)	G46V	possibly damaging	Het
Birc6	A	G	17: 74,869,056 (GRCm39)	S335G	probably damaging	Het
Bmp1	A	T	14: 70,715,362 (GRCm39)	Y924*	probably null	Het
Ccdc3	T	A	2: 5,143,113 (GRCm39)	F123L	probably benign	Het
Col6a6	C	A	9: 105,661,102 (GRCm39)	V336L	possibly damaging	Het
Cpe	T	C	8: 65,064,431 (GRCm39)	Y256C	probably damaging	Het
Creb1	T	A	1: 64,605,420 (GRCm39)	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,458,283 (GRCm39)	Y38N	probably damaging	Het
Cyren	T	C	6: 34,852,516 (GRCm39)	N60D	possibly damaging	Het
Dnajc1	A	G	2: 18,224,684 (GRCm39)	S390P	probably benign	Het
Edrf1	G	A	7: 133,245,455 (GRCm39)	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,774,511 (GRCm39)	S98P	probably damaging	Het
Emsy	G	A	7: 98,248,973 (GRCm39)	A812V	unknown	Het
Eppk1	A	T	15: 75,991,703 (GRCm39)	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274 (GRCm38)	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,662,209 (GRCm39)	R40W	probably damaging	Het
Gnpat	A	G	8: 125,603,673 (GRCm39)	R194G	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Il17re	T	C	6: 113,439,930 (GRCm39)		probably null	Het
Inpp5d	G	A	1: 87,593,121 (GRCm39)	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,687,969 (GRCm39)	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Klhdc4	T	A	8: 122,556,159 (GRCm39)	M21L	unknown	Het
Lgalsl2	T	C	7: 5,362,819 (GRCm39)	I150T	possibly damaging	Het
Lrguk	C	T	6: 34,072,474 (GRCm39)	A588V	probably damaging	Het
Marchf5	T	C	19: 37,197,822 (GRCm39)	Y164H	probably benign	Het
Mbip	T	A	12: 56,392,473 (GRCm39)	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Myh8	A	T	11: 67,189,478 (GRCm39)	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,830,589 (GRCm39)	I56K	probably benign	Het
Nlrc4	A	G	17: 74,753,651 (GRCm39)	L244P	probably damaging	Het
Or11h6	A	G	14: 50,879,815 (GRCm39)	T20A	probably benign	Het
Or14a258	A	T	7: 86,035,262 (GRCm39)	M202K	probably benign	Het
Pdc	A	C	1: 150,206,534 (GRCm39)	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,460 (GRCm39)	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,705,295 (GRCm39)	G900V	probably benign	Het
Plpp1	A	T	13: 112,993,323 (GRCm39)	H86L	probably benign	Het
Plpp1	T	G	13: 112,996,186 (GRCm39)	F168C	probably damaging	Het
Pms1	G	A	1: 53,246,767 (GRCm39)	P312S	probably damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,850,208 (GRCm39)	D19G	probably damaging	Het
Sdr42e1	T	A	8: 118,400,386 (GRCm39)		probably benign	Het
Serpinb8	C	T	1: 107,532,438 (GRCm39)	R177*	probably null	Het
Serpini1	A	C	3: 75,524,021 (GRCm39)	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Smco3	T	A	6: 136,808,247 (GRCm39)	Y209F	probably damaging	Het
Smtn	C	G	11: 3,474,708 (GRCm39)	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Sri	T	A	5: 8,106,641 (GRCm39)		probably null	Het
Strn	G	A	17: 78,963,204 (GRCm39)	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,466,213 (GRCm39)	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,937,573 (GRCm39)	F628I	probably damaging	Het
Trrap	T	A	5: 144,713,956 (GRCm39)	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,633,090 (GRCm39)	G201C	probably damaging	Het
Tti1	T	A	2: 157,842,618 (GRCm39)	I804F	probably benign	Het
Unc5b	C	T	10: 60,613,217 (GRCm39)	G340R	probably damaging	Het
Usp13	C	A	3: 32,892,005 (GRCm39)	Y61*	probably null	Het
Vmn1r230	T	C	17: 21,067,144 (GRCm39)	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,704 (GRCm39)	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,308,018 (GRCm39)	V740A	probably benign	Het
Zbtb14	A	G	17: 69,694,415 (GRCm39)	I38V	probably benign	Het
Zfp623	T	C	15: 75,820,271 (GRCm39)	I409T	probably damaging	Het
Zfp764l1	T	A	7: 126,991,259 (GRCm39)	M243L	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
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
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'- CGGAAGCCCTTGTAGAGTAG -3'
(R):5'- TTGCCACACAACAGATTTACTC -3'

Sequencing Primer
(F):5'- TGGGGTCAATTCCTAGCACAC -3'
(R):5'- ACAACACTCTTATCTTGAAAGGTAC -3'

Posted On

2019-11-12