Mutagenetix > Incidental Mutation

Incidental Mutation 'R4389:Ndufb4'

326344

Institutional Source

Beutler Lab

Gene Symbol

Ndufb4

Ensembl Gene

ENSMUSG00000022820

Gene Name

NADH:ubiquinone oxidoreductase subunit B4

Synonyms

1300010H20Rik, 0610006N12Rik

MMRRC Submission

041126-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R4389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37467962-37474779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37468032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 126 (N126S)

Ref Sequence

ENSEMBL: ENSMUSP00000023514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023514]

AlphaFold

Q9CQC7

Predicted Effect

probably benign
Transcript: ENSMUST00000023514
AA Change: N126S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023514
Gene: ENSMUSG00000022820
AA Change: N126S

Domain	Start	End	E-Value	Type
Pfam:NDUF_B4	5	128	5.5e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135019

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 92.6%

Validation Efficiency

87% (26/30)

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,247,878 (GRCm39)	T2542P	probably damaging	Het
Adprm	C	T	11: 66,929,019 (GRCm39)	R324K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cfap54	T	A	10: 92,803,362 (GRCm39)	K1560M	probably benign	Het
Ctps1	T	C	4: 120,415,987 (GRCm39)	D212G	probably damaging	Het
Ercc6	T	A	14: 32,296,865 (GRCm39)	L1285*	probably null	Het
Gzma	G	T	13: 113,234,922 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,843,618 (GRCm39)	I120M	possibly damaging	Het
Lhx3	C	T	2: 26,091,102 (GRCm39)		probably benign	Het
Mtfr1l	T	C	4: 134,259,953 (GRCm39)		probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Nptn	A	G	9: 58,551,055 (GRCm39)	K361E	probably damaging	Het
Or5an1c	A	G	19: 12,218,503 (GRCm39)	V174A	probably damaging	Het
Orc2	T	C	1: 58,514,020 (GRCm39)	D332G	probably benign	Het
Pcdha4	T	C	18: 37,087,842 (GRCm39)	V675A	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Slc13a1	A	T	6: 24,092,397 (GRCm39)		probably null	Het
Tec	A	G	5: 72,939,350 (GRCm39)	Y222H	probably benign	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Vmn1r66	A	T	7: 10,008,715 (GRCm39)	L106*	probably null	Het
Zfp189	A	G	4: 49,529,934 (GRCm39)	R346G	probably damaging	Het

Other mutations in Ndufb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02584:Ndufb4	APN	16	37,469,532 (GRCm39)	splice site	probably benign
R5345:Ndufb4	UTSW	16	37,474,540 (GRCm39)	critical splice donor site	probably null
R8252:Ndufb4	UTSW	16	37,474,637 (GRCm39)	missense	probably benign
R8509:Ndufb4	UTSW	16	37,469,506 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACACTCCGTTGCTGACTAACAG -3'
(R):5'- CGAAGTCCTTGGGCTTTAGG -3'

Sequencing Primer
(F):5'- AACAAATGTGTCTTCACTGACC -3'
(R):5'- CTTTAGGAGATGGGCTTACAGTTAC -3'

Posted On

2015-07-06