Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02616:Atp13a1'

300682

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 #

IGL02616

Quality Score

Status

Chromosome

Chromosomal Location

70243813-70260399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70257963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 906 (V906A)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

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

AlphaFold

Q9EPE9

Predicted Effect

probably benign
Transcript: ENSMUST00000034326
AA Change: V906A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: V906A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,644 (GRCm39)	R190G	probably benign	Het
4931406B18Rik	T	C	7: 43,150,437 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,020,971 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,982,991 (GRCm39)	P1425Q	probably benign	Het
Arih1	A	G	9: 59,319,759 (GRCm39)	V285A	probably benign	Het
Atp2a2	A	T	5: 122,599,747 (GRCm39)	I548N	probably benign	Het
C2cd5	A	T	6: 142,980,837 (GRCm39)	S643T	probably benign	Het
Calcoco1	T	C	15: 102,624,285 (GRCm39)	D210G	probably damaging	Het
Cep128	A	G	12: 91,263,032 (GRCm39)	I289T	probably benign	Het
Ces1c	C	T	8: 93,833,243 (GRCm39)	M407I	probably benign	Het
Cntln	T	G	4: 85,033,689 (GRCm39)		probably null	Het
Cypt12	T	A	3: 18,002,892 (GRCm39)	H88Q	possibly damaging	Het
Ddc	T	A	11: 11,830,645 (GRCm39)		probably benign	Het
Dnajb12	T	C	10: 59,728,685 (GRCm39)		probably null	Het
Gata2	A	G	6: 88,182,462 (GRCm39)	T477A	possibly damaging	Het
Gckr	A	G	5: 31,484,419 (GRCm39)	D619G	probably benign	Het
Gm5699	A	T	1: 31,037,432 (GRCm39)		noncoding transcript	Het
Gm8257	T	A	14: 44,892,683 (GRCm39)	S106C	probably damaging	Het
Gpr15	A	C	16: 58,538,567 (GRCm39)	L174R	probably damaging	Het
Hnrnph3	T	A	10: 62,855,264 (GRCm39)	H7L	possibly damaging	Het
Ide	A	T	19: 37,275,455 (GRCm39)	I518N	unknown	Het
Igdcc4	G	A	9: 65,040,360 (GRCm39)	G957D	probably damaging	Het
Igsf10	G	A	3: 59,226,027 (GRCm39)	P2549S	probably benign	Het
Kcnj9	A	G	1: 172,153,531 (GRCm39)	S198P	probably damaging	Het
Lclat1	T	C	17: 73,476,528 (GRCm39)	I45T	probably benign	Het
Met	T	C	6: 17,553,346 (GRCm39)	L1044S	probably damaging	Het
Msh4	T	C	3: 153,563,160 (GRCm39)	T739A	probably benign	Het
Ncam1	T	C	9: 49,419,988 (GRCm39)	E776G	probably benign	Het
Ndufv3	G	A	17: 31,746,643 (GRCm39)	V178M	probably damaging	Het
Nlgn1	T	C	3: 25,488,409 (GRCm39)	Y613C	probably damaging	Het
Nmbr	T	C	10: 14,636,431 (GRCm39)		probably benign	Het
Orc1	T	A	4: 108,452,676 (GRCm39)	W184R	probably benign	Het
Pde6b	T	C	5: 108,579,407 (GRCm39)	S850P	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,085,505 (GRCm39)		probably benign	Het
Pomt2	T	A	12: 87,171,636 (GRCm39)	H378L	probably damaging	Het
Sh3gl3	C	T	7: 81,934,226 (GRCm39)		probably benign	Het
Thsd7a	A	T	6: 12,408,984 (GRCm39)	N679K	probably damaging	Het
Tns2	T	C	15: 102,019,850 (GRCm39)	M572T	probably benign	Het
Twf2	C	T	9: 106,089,955 (GRCm39)	Q103*	probably null	Het
Uncx	T	C	5: 139,532,523 (GRCm39)	I196T	possibly damaging	Het
Urgcp	A	G	11: 5,667,400 (GRCm39)	S313P	probably damaging	Het
Vmn1r222	A	T	13: 23,416,311 (GRCm39)	C301S	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,031 (GRCm39)	Q325L	possibly damaging	Het
Vps4a	C	T	8: 107,768,909 (GRCm39)	R236W	probably damaging	Het
Wdr19	T	A	5: 65,380,924 (GRCm39)	H344Q	probably damaging	Het
Wiz	A	T	17: 32,578,443 (GRCm39)	D356E	probably damaging	Het
Zc3h10	T	C	10: 128,380,751 (GRCm39)	E202G	probably benign	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
IGL02399:Atp13a1	APN	8	70,259,751 (GRCm39)	missense	probably damaging	1.00
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