Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Atp5k'

92448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp5k

Ensembl Gene

ENSMUSG00000050856

Gene Name

ATP synthase, H+ transporting, mitochondrial F1F0 complex, subunit E

Synonyms

2610008D24Rik, Lfm1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

108433244-108434448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108434033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 28 (K28N)

Ref Sequence

ENSEMBL: ENSMUSP00000051222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031456] [ENSMUST00000049628] [ENSMUST00000118632]

AlphaFold

Q06185

Predicted Effect

probably benign
Transcript: ENSMUST00000031456

SMART Domains

Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491

Domain	Start	End	E-Value	Type
GAF	71	230	1.29e-27	SMART
GAF	252	439	5.76e-25	SMART
Blast:HDc	484	538	1e-24	BLAST
HDc	554	732	1.25e-9	SMART
Blast:HDc	757	792	8e-13	BLAST
low complexity region	813	837	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000049628
AA Change: K28N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051222
Gene: ENSMUSG00000050856
AA Change: K28N

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_E	2	69	6.3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118632
AA Change: K28N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134865

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Atp5k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Atp5k	APN	5	108434056	missense	probably benign	0.00
IGL02585:Atp5k	APN	5	108434070	missense	probably damaging	1.00
R6284:Atp5k	UTSW	5	108434059	missense	probably benign	0.00

Posted On

2013-12-09