Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00949:Atp13a1'

28042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, catp, Atp13a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00949

Quality Score

Status

Chromosome

Chromosomal Location

70243813-70260399 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 70252653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034326]

AlphaFold

Q9EPE9

Predicted Effect

probably benign
Transcript: ENSMUST00000034326

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862

Domain	Start	End	E-Value	Type
low complexity region	54	62	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
Pfam:E1-E2_ATPase	264	515	3.2e-24	PFAM
Pfam:Hydrolase	524	781	2.2e-11	PFAM
Pfam:HAD	527	870	2.7e-27	PFAM
low complexity region	883	894	N/A	INTRINSIC
transmembrane domain	1045	1067	N/A	INTRINSIC
transmembrane domain	1093	1115	N/A	INTRINSIC
transmembrane domain	1130	1147	N/A	INTRINSIC
low complexity region	1173	1184	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	A	G	X: 141,126,325 (GRCm39)	C303R	probably damaging	Het
Als2	C	T	1: 59,254,731 (GRCm39)	G209S	probably damaging	Het
Ankrd11	T	C	8: 123,635,467 (GRCm39)	T56A	possibly damaging	Het
Arnt	T	A	3: 95,394,579 (GRCm39)	I381N	probably damaging	Het
Cd180	A	T	13: 102,830,268 (GRCm39)	T21S	possibly damaging	Het
Cdc27	T	C	11: 104,420,229 (GRCm39)	Y138C	probably damaging	Het
Dhx16	A	G	17: 36,198,826 (GRCm39)	T753A	probably benign	Het
Dnah1	A	G	14: 31,029,047 (GRCm39)	M561T	probably benign	Het
Dsc3	C	A	18: 20,118,688 (GRCm39)	G259C	probably null	Het
Enox2	A	T	X: 48,129,484 (GRCm39)	D346E	probably benign	Het
Exoc3l	T	C	8: 106,017,130 (GRCm39)	E619G	probably benign	Het
Exosc9	T	C	3: 36,617,415 (GRCm39)		probably benign	Het
Gmpr2	C	T	14: 55,914,207 (GRCm39)		probably benign	Het
Golga1	T	C	2: 38,931,267 (GRCm39)	E289G	probably damaging	Het
H3c1	G	A	13: 23,946,014 (GRCm39)	T108I	probably damaging	Het
Jmy	A	G	13: 93,590,510 (GRCm39)	V531A	probably damaging	Het
Lamp2	T	C	X: 37,524,350 (GRCm39)	N156S	probably benign	Het
Lrrn1	C	A	6: 107,546,261 (GRCm39)	N686K	probably benign	Het
Lyst	T	C	13: 13,810,070 (GRCm39)	V580A	possibly damaging	Het
Ms4a8a	C	A	19: 11,056,808 (GRCm39)	L91F	probably benign	Het
Naip2	A	G	13: 100,298,099 (GRCm39)	F646L	probably damaging	Het
Npat	T	C	9: 53,474,662 (GRCm39)	V818A	probably benign	Het
Or2w4	A	T	13: 21,795,521 (GRCm39)	I206N	probably damaging	Het
Padi3	C	A	4: 140,516,254 (GRCm39)	R542L	possibly damaging	Het
Pid1	A	G	1: 84,016,227 (GRCm39)	V46A	probably damaging	Het
Pld5	A	T	1: 175,803,039 (GRCm39)	C409S	probably damaging	Het
Plet1	A	G	9: 50,410,523 (GRCm39)	T105A	possibly damaging	Het
Polrmt	T	C	10: 79,573,431 (GRCm39)		probably null	Het
Pp2d1	T	C	17: 53,822,667 (GRCm39)	N133S	probably benign	Het
Prpf40b	G	T	15: 99,204,419 (GRCm39)	V228L	probably benign	Het
Ptgfrn	A	T	3: 100,980,161 (GRCm39)	M393K	probably benign	Het
Slc9a1	C	T	4: 133,143,762 (GRCm39)	T416I	probably benign	Het
Slc9c1	T	C	16: 45,413,721 (GRCm39)	S950P	probably benign	Het
Slitrk1	A	T	14: 109,149,241 (GRCm39)	V490D	probably damaging	Het
Th	T	C	7: 142,450,763 (GRCm39)	Y131C	probably benign	Het
Tlr6	A	G	5: 65,110,855 (GRCm39)	L684P	probably damaging	Het
Tpm3	A	G	3: 89,997,165 (GRCm39)	E234G	probably damaging	Het
Tti1	A	G	2: 157,824,319 (GRCm39)	Y1045H	probably benign	Het
Txnl4b	T	A	8: 110,295,707 (GRCm39)	V37D	probably benign	Het
Ufl1	A	T	4: 25,275,822 (GRCm39)	F194I	probably damaging	Het
Usp13	G	A	3: 32,940,726 (GRCm39)	E412K	possibly damaging	Het
Usp46	A	T	5: 74,163,903 (GRCm39)	L251Q	possibly damaging	Het

Other mutations in Atp13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Atp13a1	APN	8	70,249,547 (GRCm39)	missense	probably damaging	1.00
IGL01122:Atp13a1	APN	8	70,251,555 (GRCm39)	missense	probably damaging	1.00
IGL02399:Atp13a1	APN	8	70,259,751 (GRCm39)	missense	probably damaging	1.00
IGL02616:Atp13a1	APN	8	70,257,963 (GRCm39)	missense	probably benign
IGL03073:Atp13a1	APN	8	70,251,152 (GRCm39)	missense	probably damaging	1.00
yun_nan	UTSW	8	70,251,329 (GRCm39)	missense	probably damaging	1.00
P0005:Atp13a1	UTSW	8	70,256,397 (GRCm39)	missense	possibly damaging	0.88
R0086:Atp13a1	UTSW	8	70,250,424 (GRCm39)	missense	possibly damaging	0.86
R0384:Atp13a1	UTSW	8	70,249,974 (GRCm39)	missense	possibly damaging	0.89
R0973:Atp13a1	UTSW	8	70,254,794 (GRCm39)	critical splice donor site	probably null
R0973:Atp13a1	UTSW	8	70,254,794 (GRCm39)	critical splice donor site	probably null
R0974:Atp13a1	UTSW	8	70,254,794 (GRCm39)	critical splice donor site	probably null
R2010:Atp13a1	UTSW	8	70,244,010 (GRCm39)	missense	possibly damaging	0.77
R2040:Atp13a1	UTSW	8	70,259,702 (GRCm39)	missense	possibly damaging	0.76
R2069:Atp13a1	UTSW	8	70,252,423 (GRCm39)	missense	probably benign	0.00
R4274:Atp13a1	UTSW	8	70,257,942 (GRCm39)	missense	probably benign
R4288:Atp13a1	UTSW	8	70,246,728 (GRCm39)	missense	possibly damaging	0.89
R4470:Atp13a1	UTSW	8	70,251,329 (GRCm39)	missense	probably damaging	1.00
R5408:Atp13a1	UTSW	8	70,249,490 (GRCm39)	missense	probably benign	0.41
R5916:Atp13a1	UTSW	8	70,259,748 (GRCm39)	missense	probably damaging	1.00
R5920:Atp13a1	UTSW	8	70,252,746 (GRCm39)	missense	probably benign	0.02
R5951:Atp13a1	UTSW	8	70,249,935 (GRCm39)	missense	probably damaging	1.00
R6143:Atp13a1	UTSW	8	70,258,010 (GRCm39)	missense	probably benign
R6467:Atp13a1	UTSW	8	70,259,424 (GRCm39)	missense	probably damaging	1.00
R6487:Atp13a1	UTSW	8	70,252,528 (GRCm39)	missense	probably damaging	0.99
R7166:Atp13a1	UTSW	8	70,251,966 (GRCm39)	splice site	probably null
R7652:Atp13a1	UTSW	8	70,258,209 (GRCm39)	missense	probably damaging	0.97
R7942:Atp13a1	UTSW	8	70,259,870 (GRCm39)	missense	probably damaging	0.96
R8014:Atp13a1	UTSW	8	70,252,429 (GRCm39)	nonsense	probably null
R8228:Atp13a1	UTSW	8	70,251,569 (GRCm39)	missense	probably damaging	1.00
R8496:Atp13a1	UTSW	8	70,250,618 (GRCm39)	missense	probably damaging	1.00
R8951:Atp13a1	UTSW	8	70,246,484 (GRCm39)	missense	probably benign	0.01
R9000:Atp13a1	UTSW	8	70,254,725 (GRCm39)	missense	probably damaging	1.00
R9087:Atp13a1	UTSW	8	70,256,457 (GRCm39)	missense	probably damaging	1.00
R9721:Atp13a1	UTSW	8	70,252,087 (GRCm39)	missense	probably damaging	1.00
RF001:Atp13a1	UTSW	8	70,252,720 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-04-17