Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Ndufs1'

24083

Institutional Source

Beutler Lab

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH:ubiquinone oxidoreductase core subunit S1

Synonyms

9930026A05Rik, 5830412M15Rik

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0165 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

63182751-63215981 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 63198907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126621 (fasta)

Gene Model

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

AlphaFold

Q91VD9

Predicted Effect

probably null
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: ENSMUST00000138611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140612

Predicted Effect

probably null
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

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

noncoding transcript
Transcript: ENSMUST00000188602

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: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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
2700049A03Rik	T	C	12: 71,213,924 (GRCm39)	I717T	possibly damaging	Het
6430571L13Rik	A	G	9: 107,223,383 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,950,126 (GRCm39)		probably benign	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,558,499 (GRCm39)		probably benign	Het
Agap3	A	G	5: 24,684,743 (GRCm39)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,517,445 (GRCm39)	S459P	probably benign	Het
Armh4	A	G	14: 50,011,243 (GRCm39)	S155P	probably benign	Het
Ascc3	T	A	10: 50,718,223 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,613,980 (GRCm39)	N305S	probably damaging	Het
Catip	T	A	1: 74,407,628 (GRCm39)	L320Q	possibly damaging	Het
Cplane1	G	A	15: 8,245,866 (GRCm39)	V1413M	probably damaging	Het
Cttnbp2	G	A	6: 18,435,409 (GRCm39)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,257,481 (GRCm39)	N228T	probably benign	Het
Dapk1	T	C	13: 60,909,407 (GRCm39)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Ddhd1	G	A	14: 45,833,049 (GRCm39)	T849M	probably damaging	Het
Dnah6	A	G	6: 72,998,306 (GRCm39)	S3987P	probably benign	Het
Dst	C	A	1: 34,193,727 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,049,203 (GRCm39)		probably null	Het
Ern2	T	C	7: 121,779,002 (GRCm39)	T281A	probably benign	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Gckr	A	G	5: 31,484,292 (GRCm39)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,293,419 (GRCm39)		probably null	Het
Gm7535	T	C	17: 18,131,437 (GRCm39)		probably benign	Het
Gmps	T	A	3: 63,901,375 (GRCm39)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,917,414 (GRCm39)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 110,401,998 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,657,867 (GRCm39)	I1934F	probably damaging	Het
Lars1	A	T	18: 42,335,762 (GRCm39)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,553,514 (GRCm39)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,111,739 (GRCm39)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Meiob	A	G	17: 25,054,135 (GRCm39)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,250,283 (GRCm39)	T41M	probably damaging	Het
Miga1	C	T	3: 151,996,480 (GRCm39)	E323K	probably damaging	Het
Or5p62	T	C	7: 107,771,882 (GRCm39)	D23G	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,540,208 (GRCm39)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,381,434 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,099,974 (GRCm39)	M1826K	probably benign	Het
Qki	T	A	17: 10,457,892 (GRCm39)	D159V	probably damaging	Het
Rab12	A	T	17: 66,807,312 (GRCm39)	I139N	probably damaging	Het
Rab25	T	A	3: 88,455,362 (GRCm39)	E7D	probably benign	Het
Rala	A	T	13: 18,063,174 (GRCm39)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,230,407 (GRCm39)		probably benign	Het
Rbl2	T	A	8: 91,800,804 (GRCm39)	Y89N	probably damaging	Het
Rho	A	T	6: 115,909,188 (GRCm39)	I75F	probably damaging	Het
Slc38a4	C	A	15: 96,906,830 (GRCm39)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,245,670 (GRCm39)	D551G	probably null	Het
Smyd3	T	C	1: 178,871,437 (GRCm39)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,684,512 (GRCm39)	L180*	probably null	Het
Stat6	T	C	10: 127,493,096 (GRCm39)	V576A	probably damaging	Het
Strn	T	C	17: 78,984,803 (GRCm39)	D127G	possibly damaging	Het
Syne1	T	C	10: 4,983,096 (GRCm39)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,306,678 (GRCm39)		probably null	Het
Tcf3	C	T	10: 80,248,831 (GRCm39)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,103,286 (GRCm39)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,866,020 (GRCm39)		probably benign	Het
Tmprss11c	A	T	5: 86,379,786 (GRCm39)		probably benign	Het
Tnfsf18	A	G	1: 161,322,300 (GRCm39)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,742,871 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,639,433 (GRCm39)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,789,864 (GRCm39)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,551,686 (GRCm39)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,683,460 (GRCm39)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vwce	T	C	19: 10,637,337 (GRCm39)		probably benign	Het
Wdhd1	A	G	14: 47,504,525 (GRCm39)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,752,604 (GRCm39)	S560P	probably damaging	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
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
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'- TCTCTCATATCAGCCCTGACAGAACAA -3'
(R):5'- TGCTGCCACCATCCCTGTGT -3'

Sequencing Primer
(F):5'- tcagtggcagaggcagg -3'
(R):5'- GCTTATGATGGACTAAAACGTCAAAG -3'

Posted On

2013-04-16