Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02585:Atp5me'

299516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp5me

Ensembl Gene

ENSMUSG00000050856

Gene Name

ATP synthase membrane subunit e

Synonyms

2610008D24Rik, Atp5k, Lfm1

Accession Numbers

Essential gene?

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

Stock #

IGL02585

Quality Score

Status

Chromosome

Chromosomal Location

108581112-108582265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108581936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 16 (Y16C)

Ref Sequence

ENSEMBL: ENSMUSP00000113882 (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: Y16C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051222
Gene: ENSMUSG00000050856
AA Change: Y16C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118632
AA Change: Y16C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,592,121 (GRCm39)	I603T	possibly damaging	Het
Aebp1	A	G	11: 5,820,855 (GRCm39)		probably null	Het
Ccdc122	A	T	14: 77,330,202 (GRCm39)		probably benign	Het
Ccdc83	C	T	7: 89,886,120 (GRCm39)	R213Q	probably damaging	Het
Cd38	G	A	5: 44,067,644 (GRCm39)	V292M	probably damaging	Het
Eps8l1	T	C	7: 4,472,212 (GRCm39)	S26P	probably damaging	Het
Gdpd1	A	T	11: 86,964,802 (GRCm39)	M1K	probably null	Het
Inmt	T	A	6: 55,150,431 (GRCm39)	I69F	probably damaging	Het
Lrrc19	A	T	4: 94,531,562 (GRCm39)	S17T	probably benign	Het
Macf1	G	T	4: 123,366,077 (GRCm39)	Q1330K	probably benign	Het
Map4k3	C	A	17: 80,961,348 (GRCm39)		probably benign	Het
Musk	A	G	4: 58,347,849 (GRCm39)	T329A	probably benign	Het
Nhs	T	C	X: 160,624,760 (GRCm39)	E863G	probably damaging	Het
Nts	T	A	10: 102,318,329 (GRCm39)	I125F	probably benign	Het
Odr4	T	A	1: 150,239,272 (GRCm39)	T384S	probably damaging	Het
Phip	G	A	9: 82,785,241 (GRCm39)	L825F	probably benign	Het
Prr14l	T	C	5: 32,986,828 (GRCm39)	H889R	possibly damaging	Het
Rbm15b	T	C	9: 106,763,025 (GRCm39)	Q381R	probably benign	Het
Rtn1	C	A	12: 72,354,929 (GRCm39)		probably null	Het
Ryr3	A	G	2: 112,542,648 (GRCm39)	L3167P	probably damaging	Het
Scfd1	G	A	12: 51,433,890 (GRCm39)	E61K	probably damaging	Het
Sgce	A	G	6: 4,711,388 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,275,097 (GRCm39)	V52E	probably benign	Het
Slc38a11	T	C	2: 65,166,135 (GRCm39)	D212G	probably benign	Het
Snx14	T	C	9: 88,286,571 (GRCm39)	K356R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssc4d	A	G	5: 135,999,192 (GRCm39)	S4P	possibly damaging	Het
Tas2r119	A	G	15: 32,177,679 (GRCm39)	T82A	probably benign	Het
Ush2a	A	T	1: 188,460,530 (GRCm39)	Q2597L	probably benign	Het
Uspl1	C	T	5: 149,150,872 (GRCm39)	Q691*	probably null	Het
Ythdf3	T	C	3: 16,243,642 (GRCm39)	V17A	probably benign	Het
Zscan29	T	A	2: 120,994,357 (GRCm39)	R543*	probably null	Het

Other mutations in Atp5me

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Atp5me	APN	5	108,581,922 (GRCm39)	missense	probably benign	0.00
IGL01618:Atp5me	APN	5	108,581,899 (GRCm39)	missense	probably damaging	0.96
R6284:Atp5me	UTSW	5	108,581,925 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16