Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02399:Atp13a1'

291826

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 #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

70243813-70260399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70259751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1114 (N1114S)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034326] [ENSMUST00000036074] [ENSMUST00000123453]

AlphaFold

Q9EPE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034326
AA Change: N1114S

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

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: N1114S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036074

SMART Domains

Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246

Domain	Start	End	E-Value	Type
PDB:3QWE\|A	85	356	1e-149	PDB
low complexity region	358	367	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
C1	491	536	1.75e-6	SMART
RhoGAP	561	753	1.06e-61	SMART
Blast:RhoGAP	824	971	1e-53	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123453

SMART Domains

Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246

Domain	Start	End	E-Value	Type
PDB:3QWE\|A	85	356	1e-150	PDB
low complexity region	358	367	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
C1	491	536	1.75e-6	SMART
RhoGAP	561	753	1.06e-61	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156620

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,700,413 (GRCm39)		probably benign	Het
Adarb1	G	A	10: 77,131,588 (GRCm39)	P624S	probably benign	Het
Afg3l2	A	T	18: 67,562,110 (GRCm39)	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,381,831 (GRCm39)		probably benign	Het
C3ar1	T	C	6: 122,826,838 (GRCm39)	N460D	probably benign	Het
Cacna1e	A	G	1: 154,279,493 (GRCm39)	Y1988H	probably damaging	Het
Calr	T	C	8: 85,569,415 (GRCm39)		probably benign	Het
D5Ertd579e	A	G	5: 36,773,529 (GRCm39)	S289P	probably damaging	Het
Erbb4	G	A	1: 68,081,596 (GRCm39)		probably benign	Het
Fam98a	A	G	17: 75,845,936 (GRCm39)		probably benign	Het
Gm3739	A	T	14: 18,505,274 (GRCm39)	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,567,071 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,135,396 (GRCm39)	V245A	probably damaging	Het
Kptn	C	A	7: 15,861,038 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,735,661 (GRCm39)	C86R	probably damaging	Het
Lrr1	T	A	12: 69,215,665 (GRCm39)	C12*	probably null	Het
Mcf2	T	C	X: 59,180,812 (GRCm39)	D255G	probably damaging	Het
Med13	A	T	11: 86,174,771 (GRCm39)		probably benign	Het
Mthfd1	C	T	12: 76,364,406 (GRCm39)	T735M	probably damaging	Het
Nlrp2	C	T	7: 5,331,809 (GRCm39)	A196T	probably damaging	Het
Nnmt	T	C	9: 48,514,838 (GRCm39)	I60V	probably damaging	Het
Odad2	G	T	18: 7,285,719 (GRCm39)	Q215K	probably benign	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or6ae1	A	T	7: 139,742,513 (GRCm39)	S117T	probably benign	Het
P2rx3	T	C	2: 84,853,571 (GRCm39)	I140V	probably benign	Het
Patj	A	G	4: 98,480,173 (GRCm39)	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,278,821 (GRCm39)		probably benign	Het
Ppp1r26	T	G	2: 28,343,292 (GRCm39)	V974G	probably benign	Het
Prrc2b	T	A	2: 32,116,973 (GRCm39)	L1376*	probably null	Het
Rab33a	T	A	X: 47,608,584 (GRCm39)	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,855,840 (GRCm39)	N493I	possibly damaging	Het
Scara3	C	A	14: 66,170,559 (GRCm39)	G107*	probably null	Het
Siglec1	T	C	2: 130,913,098 (GRCm39)	E1606G	probably benign	Het
Skint9	A	T	4: 112,246,447 (GRCm39)	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,253,884 (GRCm39)	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,193,020 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,639,711 (GRCm39)	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,639,942 (GRCm39)	I245L	probably benign	Het
Smarcb1	T	C	10: 75,733,328 (GRCm39)	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,877,954 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,639,573 (GRCm39)	I874F	probably damaging	Het
Taar7b	A	T	10: 23,876,050 (GRCm39)	I72F	probably damaging	Het
Tacc2	G	A	7: 130,225,129 (GRCm39)	V605I	probably benign	Het
Tef	T	C	15: 81,699,301 (GRCm39)	L34P	probably damaging	Het
Trak2	A	G	1: 58,949,204 (GRCm39)	V532A	probably benign	Het
Usp13	T	A	3: 32,973,209 (GRCm39)	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,529,913 (GRCm39)	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,615,093 (GRCm39)	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,993,329 (GRCm39)	F615L	probably benign	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het
Zhx1	T	C	15: 57,917,137 (GRCm39)	I370V	probably 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
IGL00949:Atp13a1	APN	8	70,252,653 (GRCm39)	splice site	probably benign
IGL01122:Atp13a1	APN	8	70,251,555 (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

2015-04-16