Mutagenetix > Incidental Mutation

Incidental Mutation 'R7661:Ndufa5'

591560

Institutional Source

Beutler Lab

Gene Symbol

Ndufa5

Ensembl Gene

ENSMUSG00000023089

Gene Name

NADH:ubiquinone oxidoreductase subunit A5

Synonyms

2900002J19Rik

MMRRC Submission

045736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24518661-24527689 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 24518724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 117 (*117R)

Ref Sequence

ENSEMBL: ENSMUSP00000023851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023851] [ENSMUST00000052277] [ENSMUST00000118558]

AlphaFold

Q9CPP6

Predicted Effect

probably null
Transcript: ENSMUST00000023851
AA Change: *117R

SMART Domains

Protein: ENSMUSP00000023851
Gene: ENSMUSG00000023089
AA Change: *117R

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: ENSMUST00000052277

SMART Domains

Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192

Domain	Start	End	E-Value	Type
PDB:2DAF\|A	119	216	1e-38	PDB
Blast:UBQ	129	199	3e-26	BLAST
low complexity region	218	229	N/A	INTRINSIC
low complexity region	289	306	N/A	INTRINSIC
IQ	333	355	1.74e-1	SMART
low complexity region	357	383	N/A	INTRINSIC
low complexity region	735	742	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118558
AA Change: *78R

SMART Domains

Protein: ENSMUSP00000112971
Gene: ENSMUSG00000023089
AA Change: *78R

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	A	T	12: 107,455,215 (GRCm39)	K100N	unknown	Het
Abi3bp	T	A	16: 56,453,263 (GRCm39)		probably null	Het
Akr1c20	T	C	13: 4,558,218 (GRCm39)	D210G	probably benign	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Ascc1	A	C	10: 59,885,629 (GRCm39)	N227H	probably damaging	Het
Atp5f1a	G	T	18: 77,861,802 (GRCm39)	A18S	possibly damaging	Het
Bcl2l13	A	G	6: 120,842,558 (GRCm39)	T84A	possibly damaging	Het
Blmh	T	A	11: 76,877,341 (GRCm39)	V419D	probably damaging	Het
Cacna1d	G	A	14: 29,769,177 (GRCm39)	P1918S	probably benign	Het
Calr4	T	C	4: 109,110,951 (GRCm39)	V339A	probably benign	Het
Capza3	C	A	6: 139,987,498 (GRCm39)	D32E	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cldn20	T	A	17: 3,583,133 (GRCm39)	M102K	possibly damaging	Het
Dennd1a	T	C	2: 37,734,841 (GRCm39)	Q479R	probably benign	Het
Dpp10	A	T	1: 123,312,681 (GRCm39)	I432N	probably damaging	Het
Dst	T	A	1: 34,295,434 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,617,503 (GRCm39)	D741E	probably benign	Het
Fam135a	C	T	1: 24,111,843 (GRCm39)		probably null	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Focad	G	A	4: 88,221,772 (GRCm39)	R714H	unknown	Het
Hace1	T	G	10: 45,481,649 (GRCm39)	V124G	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,428 (GRCm39)	Y396F	probably damaging	Het
Il22ra2	A	G	10: 19,497,826 (GRCm39)	I13M	probably benign	Het
Kif21a	A	G	15: 90,865,122 (GRCm39)	F517L	possibly damaging	Het
Lrrc4	T	C	6: 28,829,762 (GRCm39)	T618A	probably benign	Het
Mdn1	A	G	4: 32,691,229 (GRCm39)	T952A	probably benign	Het
Mindy3	A	T	2: 12,402,328 (GRCm39)	I208K	probably damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	A	G	14: 103,450,059 (GRCm39)	I1744T	probably damaging	Het
Nanog	A	T	6: 122,690,431 (GRCm39)	R279W	probably damaging	Het
Ncoa2	T	A	1: 13,244,761 (GRCm39)	T646S	probably damaging	Het
Nudt18	A	T	14: 70,817,276 (GRCm39)	E293D	probably benign	Het
Or1e22	A	G	11: 73,377,426 (GRCm39)	S75P	probably damaging	Het
Or51aa2	A	T	7: 103,187,826 (GRCm39)	V205E	probably damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Pih1d2	T	C	9: 50,529,558 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 124,442,696 (GRCm38)	F17L		Het
Ptprk	T	C	10: 28,342,036 (GRCm39)	I481T	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Raet1d	T	C	10: 22,248,156 (GRCm39)	S225P	possibly damaging	Het
Rnf24	T	C	2: 131,164,135 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,687 (GRCm39)	S687G	probably damaging	Het
Rsph9	A	G	17: 46,446,013 (GRCm39)	S186P	probably damaging	Het
Sash1	C	T	10: 8,605,155 (GRCm39)	M1078I	probably benign	Het
Scd4	C	A	19: 44,327,510 (GRCm39)	D195E	probably benign	Het
Spopfm3	C	T	3: 94,105,709 (GRCm39)	T9I	probably damaging	Het
Syn3	A	G	10: 85,904,940 (GRCm39)	C348R	probably damaging	Het
Uspl1	T	C	5: 149,151,827 (GRCm39)	F1009S	probably benign	Het
Vmn1r2	T	A	4: 3,172,149 (GRCm39)	F23I	probably benign	Het
Vmn1r257	A	G	7: 22,391,229 (GRCm39)	S172P	probably benign	Het
Vmn2r-ps158	T	A	7: 42,672,582 (GRCm39)	N72K	probably benign	Het
Zfp747l1	A	T	7: 126,984,135 (GRCm39)	C322*	probably null	Het
Zfp839	C	T	12: 110,835,226 (GRCm39)	T827I	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
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
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
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'- GCATGCTCACTGTGTGACATTG -3'
(R):5'- GTGTTCTAGCAGTTAACTTCTTGCC -3'

Sequencing Primer
(F):5'- GTGCCAGTGCTAAAGGACTC -3'
(R):5'- GCCATTATTCTGAAAATACCTCTGG -3'

Posted On

2019-11-12