Mutagenetix > Incidental Mutation

Incidental Mutation 'R0441:Ndufa5'

39161

Institutional Source

Beutler Lab

Gene Symbol

Ndufa5

Ensembl Gene

ENSMUSG00000023089

Gene Name

NADH:ubiquinone oxidoreductase subunit A5

Synonyms

2900002J19Rik

MMRRC Submission

038642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24518661-24527689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24522750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 31 (T31A)

Ref Sequence

ENSEMBL: ENSMUSP00000023851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023851] [ENSMUST00000118558]

AlphaFold

Q9CPP6

Predicted Effect

probably benign
Transcript: ENSMUST00000023851
AA Change: T31A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023851
Gene: ENSMUSG00000023089
AA Change: T31A

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:ETC_C1_NDUFA5	19	73	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118558

SMART Domains

Protein: ENSMUSP00000112971
Gene: ENSMUSG00000023089

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141274

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality at E9. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,689 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,545,345 (GRCm39)	R5647*	probably null	Het
Agbl2	C	T	2: 90,627,827 (GRCm39)	R211*	probably null	Het
Akap9	A	G	5: 4,011,714 (GRCm39)	K806E	probably benign	Het
Ampd1	C	G	3: 102,995,794 (GRCm39)	L235V	probably benign	Het
Atcay	T	C	10: 81,060,294 (GRCm39)	D14G	possibly damaging	Het
Atp8b4	C	T	2: 126,220,626 (GRCm39)		probably benign	Het
Bmp8b	T	C	4: 123,018,308 (GRCm39)	V393A	probably damaging	Het
Brca2	T	A	5: 150,465,322 (GRCm39)	D1695E	probably damaging	Het
Cdh15	A	G	8: 123,587,705 (GRCm39)	I210V	probably damaging	Het
Cep250	T	C	2: 155,813,924 (GRCm39)	L564P	possibly damaging	Het
Cmpk1	T	C	4: 114,822,220 (GRCm39)	T110A	probably benign	Het
Cpsf3	T	G	12: 21,350,085 (GRCm39)	I268S	probably damaging	Het
Csmd2	C	T	4: 128,414,023 (GRCm39)	A2621V	probably benign	Het
Cyp2c40	T	C	19: 39,795,607 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 103,998,292 (GRCm39)	Y1837F	probably damaging	Het
Degs2	A	G	12: 108,668,469 (GRCm39)	F10S	probably damaging	Het
Dytn	T	A	1: 63,717,933 (GRCm39)		probably benign	Het
Elfn2	G	C	15: 78,557,795 (GRCm39)	P251A	probably benign	Het
Epg5	T	C	18: 78,066,486 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,574,811 (GRCm39)	D1022G	probably damaging	Het
Fat3	A	G	9: 15,856,304 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,151,675 (GRCm39)		probably null	Het
Gm15217	T	C	14: 46,620,676 (GRCm39)		probably null	Het
Gm17611	A	T	13: 50,130,435 (GRCm39)		noncoding transcript	Het
Gpld1	G	A	13: 25,146,303 (GRCm39)	W182*	probably null	Het
Gsc	T	C	12: 104,439,353 (GRCm39)	I8V	probably damaging	Het
Hck	A	G	2: 152,976,052 (GRCm39)	K197R	probably benign	Het
Kat6b	T	C	14: 21,720,301 (GRCm39)	L1551P	probably damaging	Het
Lrch1	C	T	14: 75,184,985 (GRCm39)	G39D	possibly damaging	Het
Macf1	T	C	4: 123,259,148 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,888,331 (GRCm39)	V248E	probably damaging	Het
Mrps15	C	A	4: 125,945,210 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nfyb	A	G	10: 82,586,594 (GRCm39)	V190A	possibly damaging	Het
Nos2	A	G	11: 78,819,409 (GRCm39)	I40M	probably benign	Het
Or2f2	T	C	6: 42,767,108 (GRCm39)	I45T	probably damaging	Het
Or5ar1	A	T	2: 85,671,859 (GRCm39)	I92N	probably damaging	Het
Or8k37	A	T	2: 86,469,674 (GRCm39)	I126K	probably damaging	Het
Otog	T	C	7: 45,955,301 (GRCm39)	S564P	probably damaging	Het
Pak5	C	T	2: 135,958,549 (GRCm39)	A180T	probably benign	Het
Pappa2	T	C	1: 158,590,628 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxnc1	T	A	10: 94,632,344 (GRCm39)	N1431I	probably damaging	Het
Prph	A	T	15: 98,955,319 (GRCm39)	I429L	probably damaging	Het
Prrc2a	A	G	17: 35,368,664 (GRCm39)		probably benign	Het
Pwwp3a	A	T	10: 80,064,859 (GRCm39)	N30Y	probably damaging	Het
Rad54b	A	T	4: 11,563,394 (GRCm39)	T18S	probably benign	Het
Ranbp2	A	G	10: 58,321,590 (GRCm39)	E2629G	probably benign	Het
Rec114	G	A	9: 58,565,053 (GRCm39)	T201I	probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Sec23b	A	G	2: 144,423,917 (GRCm39)	E522G	probably damaging	Het
Sgsm3	G	A	15: 80,893,971 (GRCm39)	R502H	possibly damaging	Het
Sh3pxd2b	C	A	11: 32,373,023 (GRCm39)	A730D	possibly damaging	Het
Spag4	A	G	2: 155,909,899 (GRCm39)	D187G	probably damaging	Het
Srgap2	G	A	1: 131,264,175 (GRCm39)	T465I	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
Tecpr1	C	A	5: 144,132,759 (GRCm39)	R1159L	probably benign	Het
Tmem63b	A	T	17: 45,977,241 (GRCm39)		probably null	Het
Tmtc1	T	A	6: 148,317,256 (GRCm39)	D78V	probably damaging	Het
Tpp2	A	G	1: 44,029,722 (GRCm39)	N68D	possibly damaging	Het
Ttn	C	A	2: 76,770,269 (GRCm39)	A2641S	probably benign	Het
Uimc1	T	C	13: 55,241,032 (GRCm39)	K19E	probably damaging	Het
Utrn	T	A	10: 12,564,038 (GRCm39)	E1274V	probably null	Het
Vmn2r102	A	T	17: 19,914,630 (GRCm39)	I732F	probably damaging	Het
Wrn	A	T	8: 33,758,778 (GRCm39)	M792K	probably benign	Het
Zfp451	A	G	1: 33,816,126 (GRCm39)	I608T	probably damaging	Het

Other mutations in Ndufa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02439:Ndufa5	APN	6	24,519,201 (GRCm39)	missense	probably damaging	1.00
BB004:Ndufa5	UTSW	6	24,527,291 (GRCm39)	missense	possibly damaging	0.89
BB014:Ndufa5	UTSW	6	24,527,291 (GRCm39)	missense	possibly damaging	0.89
R0609:Ndufa5	UTSW	6	24,519,248 (GRCm39)	missense	possibly damaging	0.95
R4891:Ndufa5	UTSW	6	24,519,246 (GRCm39)	missense	possibly damaging	0.67
R7014:Ndufa5	UTSW	6	24,519,190 (GRCm39)	critical splice donor site	probably null
R7661:Ndufa5	UTSW	6	24,518,724 (GRCm39)	makesense	probably null
R7927:Ndufa5	UTSW	6	24,527,291 (GRCm39)	missense	possibly damaging	0.89
R8139:Ndufa5	UTSW	6	24,522,757 (GRCm39)	nonsense	probably null
R9349:Ndufa5	UTSW	6	24,522,749 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAACTGAAATACTCCTTACCAGCCA -3'
(R):5'- ACATGTGCGGCCATGCATACA -3'

Sequencing Primer
(F):5'- TGAAATACTCCTTACCAGCCATACTG -3'
(R):5'- cattctacatctgctgctgtc -3'

Posted On

2013-05-23