Mutagenetix > Incidental Mutations

Incidental Mutation 'R8201:Ndufaf4'

635664

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf4

Ensembl Gene

ENSMUSG00000028261

Gene Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R8201 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24898083-24905001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24898197 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 11 (N11D)

Ref Sequence

ENSEMBL: ENSMUSP00000029925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029925] [ENSMUST00000151249]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029925
AA Change: N11D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261
AA Change: N11D

Domain	Start	End	E-Value	Type
Pfam:UPF0240	1	169	6.4e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151249
AA Change: N8D

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

SMART Domains

Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261
AA Change: N8D

Domain	Start	End	E-Value	Type
Pfam:UPF0240	1	116	2.4e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,401,397	E543G	probably benign	Het
2210408I21Rik	T	A	13: 77,193,159	N302K	possibly damaging	Het
Apbb2	T	C	5: 66,309,115	N609S	probably benign	Het
Atp10a	G	T	7: 58,819,676	G1092*	probably null	Het
Ccdc150	A	G	1: 54,329,487	N618S	probably benign	Het
Cct4	T	A	11: 22,999,115	V287E	probably damaging	Het
Cyp2j7	A	T	4: 96,195,327	I462N	probably damaging	Het
Dnajc6	C	T	4: 101,618,763	A611V	probably benign	Het
Dusp10	C	A	1: 184,037,005	A56E	possibly damaging	Het
Fam189b	T	C	3: 89,185,808	V291A	probably damaging	Het
Fat3	A	C	9: 15,997,477	C2410G	possibly damaging	Het
Fcgrt	T	A	7: 45,095,210	Q274L	possibly damaging	Het
Fdxacb1	G	T	9: 50,770,155		probably benign	Het
Fubp1	T	A	3: 152,222,186	I424N	probably damaging	Het
Gm5114	T	A	7: 39,410,949	T159S	probably damaging	Het
Gm7168	T	C	17: 13,949,780	C470R	probably benign	Het
Hebp1	A	G	6: 135,137,908	V185A	possibly damaging	Het
Il18rap	G	T	1: 40,539,269	R280I	possibly damaging	Het
Mamdc4	T	C	2: 25,566,081	N771S	probably damaging	Het
Nkiras1	T	C	14: 18,276,908		probably benign	Het
Noct	T	C	3: 51,248,023	S135P	probably benign	Het
Olfr18	T	C	9: 20,314,612	M103V	probably benign	Het
Olfr317	A	C	11: 58,733,114	F17C	probably damaging	Het
Olfr330	A	T	11: 58,529,039	*316R	noncoding transcript	Het
Olfr382	T	A	11: 73,517,073	N42I	probably damaging	Het
Olfr873	G	T	9: 20,301,021	G271C	probably damaging	Het
Pcdhac1	A	T	18: 37,090,839	H235L	probably benign	Het
Pcdhb22	G	T	18: 37,518,465		probably benign	Het
Pdlim1	A	T	19: 40,230,514	D224E	probably benign	Het
Plpp3	G	T	4: 105,219,358	G223W	probably damaging	Het
Rcan3	A	G	4: 135,420,373	F81S	probably damaging	Het
Sel1l2	A	C	2: 140,266,392	Y191D	probably damaging	Het
Supt16	A	G	14: 52,170,990	F833L	probably damaging	Het
Tchh	T	C	3: 93,443,474	F74L	probably damaging	Het
Tgfbr3	T	C	5: 107,130,565	D725G	probably benign	Het
Tmem14c	C	T	13: 41,017,710	P10S	probably benign	Het
Ubb	G	A	11: 62,552,227	A28T	probably benign	Het
Vars2	A	T	17: 35,658,310	V833E	probably benign	Het
Zfyve9	T	C	4: 108,650,277	D528G	possibly damaging	Het

Other mutations in Ndufaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03001:Ndufaf4	APN	4	24901747	missense	probably benign	0.44
R2128:Ndufaf4	UTSW	4	24898608	missense	probably damaging	1.00
R2129:Ndufaf4	UTSW	4	24898608	missense	probably damaging	1.00
R5666:Ndufaf4	UTSW	4	24898636	missense	probably damaging	1.00
R5670:Ndufaf4	UTSW	4	24898636	missense	probably damaging	1.00
R6021:Ndufaf4	UTSW	4	24901760	missense	probably benign	0.02
R7393:Ndufaf4	UTSW	4	24903177	missense	probably benign	0.00
R7519:Ndufaf4	UTSW	4	24901847	missense	probably damaging	0.99
R7586:Ndufaf4	UTSW	4	24901829	missense	probably damaging	0.98
R7997:Ndufaf4	UTSW	4	24901919	missense	probably benign	0.01
R8245:Ndufaf4	UTSW	4	24898648	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GCTCATCCTTAAAGACTCCGG -3'
(R):5'- TCTTGGGGCAAACACTTGGAC -3'

Sequencing Primer
(F):5'- GACAACGCCCAGATGTCTG -3'
(R):5'- ACGAGAGTCTGCGTGCAG -3'

Posted On

2020-07-13