Mutagenetix > Incidental Mutation

Incidental Mutation 'BB004:Ndufa5'

642265

Institutional Source

Beutler Lab

Gene Symbol

Ndufa5

Ensembl Gene

ENSMUSG00000023089

Gene Name

NADH:ubiquinone oxidoreductase subunit A5

Synonyms

2900002J19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

BB004

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24518661-24527689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24527291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 16 (V16A)

Ref Sequence

ENSEMBL: ENSMUSP00000023851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023851] [ENSMUST00000031696] [ENSMUST00000118558]

AlphaFold

Q9CPP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023851
AA Change: V16A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023851
Gene: ENSMUSG00000023089
AA Change: V16A

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: ENSMUST00000031696

SMART Domains

Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685

Domain	Start	End	E-Value	Type
ANK	110	139	1.59e-3	SMART
ANK	143	172	2.97e-3	SMART
ANK	176	205	1.93e-2	SMART
ANK	209	238	2.1e-3	SMART
ANK	242	273	5.01e-1	SMART
ANK	275	304	2.63e2	SMART
ANK	307	336	1.99e-4	SMART
ANK	349	378	5.24e-4	SMART
ANK	379	408	1.27e-2	SMART
ANK	417	444	2.35e3	SMART
SOCS_box	534	576	2.34e-11	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000118558
AA Change: V16A

SMART Domains

Protein: ENSMUSP00000112971
Gene: ENSMUSG00000023089
AA Change: V16A

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

Meta Mutation Damage Score

0.2685

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,123,539 (GRCm39)	M111T	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Agrn	C	T	4: 156,257,266 (GRCm39)	G1188D	probably damaging	Het
Amz2	A	G	11: 109,319,884 (GRCm39)	K90R	probably damaging	Het
Arhgef4	G	T	1: 34,846,334 (GRCm39)	Q227H	probably damaging	Het
B4galt3	T	A	1: 171,099,342 (GRCm39)	C10*	probably null	Het
Banf2	T	A	2: 143,915,718 (GRCm39)	M53K	probably benign	Het
BC034090	A	T	1: 155,117,371 (GRCm39)	L249*	probably null	Het
Cftr	A	G	6: 18,267,970 (GRCm39)	D673G	possibly damaging	Het
Cntnap2	G	T	6: 47,072,621 (GRCm39)	C1063F	possibly damaging	Het
Cstpp1	T	A	2: 91,252,250 (GRCm39)	D37V	probably damaging	Het
Dnah3	A	G	7: 119,550,494 (GRCm39)	I296T	probably damaging	Het
Dpy19l2	A	G	9: 24,607,197 (GRCm39)	V88A	probably benign	Het
Fbln5	T	C	12: 101,784,647 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,225,656 (GRCm39)	D532G	possibly damaging	Het
Fnta	G	A	8: 26,494,454 (GRCm39)	R258*	probably null	Het
Gch1	G	A	14: 47,393,380 (GRCm39)	H201Y	probably damaging	Het
Grik2	A	T	10: 49,116,890 (GRCm39)	S624T	probably damaging	Het
Grm5	T	A	7: 87,685,382 (GRCm39)	S500T	probably benign	Het
Hmcn1	T	A	1: 150,485,526 (GRCm39)	I4359F	probably damaging	Het
Hrc	T	A	7: 44,985,477 (GRCm39)	H209Q	possibly damaging	Het
Hsd17b14	T	C	7: 45,215,395 (GRCm39)	M164T	probably damaging	Het
Hydin	T	C	8: 111,307,476 (GRCm39)	F3952L	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lig4	A	T	8: 10,023,629 (GRCm39)	H50Q	possibly damaging	Het
Lrp6	G	T	6: 134,497,513 (GRCm39)	R165S	probably damaging	Het
Muc4	A	G	16: 32,592,011 (GRCm39)	T958A		Het
Myo19	A	G	11: 84,791,046 (GRCm39)	E419G	probably damaging	Het
Or10a2	T	C	7: 106,673,496 (GRCm39)	F154L	probably benign	Het
Phf24	A	C	4: 42,934,774 (GRCm39)	T137P	probably damaging	Het
Pkp4	A	T	2: 59,142,098 (GRCm39)	N467I	probably damaging	Het
Pramel25	T	A	4: 143,519,536 (GRCm39)	I99N	probably benign	Het
Rbm12b2	C	T	4: 12,095,417 (GRCm39)	R759C	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf34	T	A	5: 122,988,288 (GRCm39)		probably benign	Het
Scaf8	T	A	17: 3,209,495 (GRCm39)	S73T	unknown	Het
Scn4a	T	A	11: 106,233,209 (GRCm39)	E454D	probably damaging	Het
Serpina1e	A	G	12: 103,917,450 (GRCm39)	V73A	probably benign	Het
Sh3rf2	A	G	18: 42,244,487 (GRCm39)	T350A	probably benign	Het
Slc35a1	A	G	4: 34,669,021 (GRCm39)	V264A	probably damaging	Het
Slf2	A	G	19: 44,923,740 (GRCm39)	K185E	probably damaging	Het
Spmip8	T	A	8: 96,039,786 (GRCm39)	S68T	probably benign	Het
Spsb2	T	C	6: 124,786,336 (GRCm39)	F23S	probably benign	Het
Ssx2ip	T	G	3: 146,138,365 (GRCm39)	L404R	probably damaging	Het
Strn4	T	A	7: 16,560,556 (GRCm39)	L236Q	probably null	Het
Tcp10b	A	G	17: 13,288,579 (GRCm39)	T202A	probably benign	Het
Tdp1	G	T	12: 99,878,555 (GRCm39)	V448L	probably damaging	Het
Tecrl	T	C	5: 83,502,666 (GRCm39)	E61G	probably damaging	Het
Trim50	T	C	5: 135,382,465 (GRCm39)	F106L	probably benign	Het
Usp5	G	T	6: 124,801,192 (GRCm39)	F224L	probably benign	Het
Vmn2r114	G	C	17: 23,510,619 (GRCm39)	N620K	probably damaging	Het
Vmn2r45	C	A	7: 8,486,513 (GRCm39)	M258I	probably benign	Het
Zfp574	T	A	7: 24,779,572 (GRCm39)	V198E	probably benign	Het
Zmym4	A	G	4: 126,799,170 (GRCm39)	I722T	probably benign	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
BB014:Ndufa5	UTSW	6	24,527,291 (GRCm39)	missense	possibly damaging	0.89
R0441:Ndufa5	UTSW	6	24,522,750 (GRCm39)	missense	probably benign	0.30
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'- CGTCTTAATTAAGAGGTCACGGC -3'
(R):5'- TCACCGTGATGCTGCGAATG -3'

Sequencing Primer
(F):5'- TCTTAATTAAGAGGTCACGGCGAAGG -3'
(R):5'- TGATGCTGCGAATGGGGAC -3'

Posted On

2020-08-01