Mutagenetix > Incidental Mutation

Incidental Mutation 'R4799:Ndufs1'

369282

Institutional Source

Beutler Lab

Gene Symbol

Ndufs1

Ensembl Gene

ENSMUSG00000025968

Gene Name

NADH:ubiquinone oxidoreductase core subunit S1

Synonyms

9930026A05Rik, 5830412M15Rik

MMRRC Submission

041997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63182751-63215981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63200108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 268 (G268V)

Ref Sequence

ENSEMBL: ENSMUSP00000126621 (fasta)

Gene Model

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

AlphaFold

Q91VD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027111
AA Change: G268V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: G268V

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 damaging
Transcript: ENSMUST00000168099
AA Change: G268V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: G268V

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

noncoding transcript
Transcript: ENSMUST00000188602

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

Meta Mutation Damage Score

0.1467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (122/126)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Acads	T	A	5: 115,251,149 (GRCm39)	T112S	probably benign	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,527 (GRCm39)	K412E	probably benign	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,260,909 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,733,462 (GRCm39)	T661A	probably benign	Het
Bhmt1b	C	A	18: 87,774,573 (GRCm39)	A32E	probably damaging	Het
Capn7	T	C	14: 31,082,514 (GRCm39)	I455M	probably benign	Het
Capzb	A	G	4: 138,920,310 (GRCm39)		probably benign	Het
Car10	G	A	11: 93,469,492 (GRCm39)	V156I	possibly damaging	Het
Cbs	T	A	17: 31,851,826 (GRCm39)	D59V	probably damaging	Het
Ccar2	T	C	14: 70,377,003 (GRCm39)	E819G	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cdhr4	T	C	9: 107,875,898 (GRCm39)		probably benign	Het
Cfap251	C	T	5: 123,440,835 (GRCm39)	H1131Y	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Cps1	T	C	1: 67,182,145 (GRCm39)	Y120H	probably damaging	Het
Csf2	T	C	11: 54,140,306 (GRCm39)	D44G	probably benign	Het
Cubn	T	A	2: 13,291,835 (GRCm39)	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,355,869 (GRCm39)	S1788P	probably damaging	Het
Cul9	T	C	17: 46,811,770 (GRCm39)	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,762,293 (GRCm39)	S451R	probably damaging	Het
Cyp51	T	A	5: 4,133,256 (GRCm39)	T461S	probably damaging	Het
Cyth1	T	C	11: 118,074,768 (GRCm39)	M164V	probably damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddc	T	C	11: 11,796,632 (GRCm39)		probably null	Het
Ddx21	A	T	10: 62,423,900 (GRCm39)	D589E	probably damaging	Het
Dgkb	C	T	12: 38,164,567 (GRCm39)	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Elp4	T	A	2: 105,639,612 (GRCm39)	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,773,490 (GRCm39)	N77S	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F2rl1	G	A	13: 95,650,477 (GRCm39)	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,607,815 (GRCm39)	M65T	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbh1	C	T	2: 11,760,558 (GRCm39)	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,811,168 (GRCm39)	Q98*	probably null	Het
Flrt3	T	C	2: 140,502,086 (GRCm39)	N514S	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,811,685 (GRCm39)		noncoding transcript	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Gsap	C	A	5: 21,455,941 (GRCm39)	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,760,181 (GRCm39)	Y270F	probably benign	Het
Ift70a2	T	A	2: 75,807,729 (GRCm39)	Y261F	probably benign	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrrcc1	C	T	3: 14,601,156 (GRCm39)	R63*	probably null	Het
Lyar	A	G	5: 38,382,123 (GRCm39)	D35G	probably damaging	Het
Mbd4	C	T	6: 115,822,283 (GRCm39)	R442Q	probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052 (GRCm39)		probably null	Het
Mtmr3	G	A	11: 4,437,764 (GRCm39)	H897Y	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nap1l4	A	T	7: 143,088,200 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,114,124 (GRCm39)		probably null	Het
Ndufa7	T	C	17: 34,057,187 (GRCm39)		probably benign	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,466,145 (GRCm39)	A1528S	possibly damaging	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or4a79	C	T	2: 89,551,706 (GRCm39)	V250I	probably benign	Het
Or52z1	A	T	7: 103,436,688 (GRCm39)	F265L	possibly damaging	Het
Or7a42	T	G	10: 78,791,931 (GRCm39)	D297E	probably null	Het
Or8k39	C	T	2: 86,563,018 (GRCm39)		probably null	Het
Pcdhb8	A	G	18: 37,488,706 (GRCm39)	D128G	probably damaging	Het
Pkp4	A	T	2: 59,172,449 (GRCm39)	I522F	probably damaging	Het
Plod3	G	A	5: 137,019,654 (GRCm39)	A398T	probably benign	Het
Pou4f3	A	G	18: 42,529,052 (GRCm39)	M332V	possibly damaging	Het
Prox1	A	G	1: 189,885,669 (GRCm39)	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Prss50	A	G	9: 110,692,864 (GRCm39)	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126 (GRCm38)	S71N	probably benign	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprr	C	T	10: 115,884,123 (GRCm39)	A60V	probably benign	Het
Raet1e	T	A	10: 22,057,199 (GRCm39)	D174E	probably damaging	Het
Rbfox2	T	C	15: 76,976,018 (GRCm39)	I308M	probably benign	Het
Rnf20	G	C	4: 49,649,962 (GRCm39)		probably null	Het
Rpap2	A	T	5: 107,768,113 (GRCm39)	H317L	probably benign	Het
Rsph6a	T	A	7: 18,799,783 (GRCm39)	Y471*	probably null	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Skint2	G	A	4: 112,509,305 (GRCm39)	A363T	probably benign	Het
Slc22a30	A	G	19: 8,321,768 (GRCm39)	I432T	probably benign	Het
Slc2a2	G	A	3: 28,771,681 (GRCm39)		probably null	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,684,111 (GRCm39)	H290Y	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spag9	T	A	11: 93,939,343 (GRCm39)	F91I	probably damaging	Het
Spag9	A	T	11: 93,939,342 (GRCm39)	K90N	possibly damaging	Het
Stox1	A	C	10: 62,501,516 (GRCm39)	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,738,027 (GRCm39)	V18A	possibly damaging	Het
Syne2	A	G	12: 75,945,941 (GRCm39)	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,012,991 (GRCm39)	Q327L	probably benign	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Timd2	A	T	11: 46,568,094 (GRCm39)	Y233*	probably null	Het
Tmem39a	A	G	16: 38,411,524 (GRCm39)		probably benign	Het
Trappc10	T	C	10: 78,037,424 (GRCm39)	D793G	possibly damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Unc93a	T	C	17: 13,339,782 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,332,369 (GRCm39)	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,196,016 (GRCm39)	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,682,891 (GRCm39)	D771V	probably damaging	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zc3h13	G	A	14: 75,576,863 (GRCm39)	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,523,775 (GRCm39)	K224E	probably damaging	Het
Zfp54	T	A	17: 21,654,402 (GRCm39)	Y299N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zfp960	T	A	17: 17,308,698 (GRCm39)	F471I	probably damaging	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het
Zzef1	G	T	11: 72,750,449 (GRCm39)	S919I	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
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'- TGGGACACACAGATTATCCATAAAAGC -3'
(R):5'- GCTGTTCTGAGTTCCGCTAG -3'

Sequencing Primer
(F):5'- CCTGGTTTTATCAGAGATCCA -3'
(R):5'- GTGGATCTGGTAGTAATCCCAACAC -3'

Posted On

2016-02-04