Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:Atp13a1'

658274

Institutional Source

Beutler Lab

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, Atp13a, catp

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_133224.2; MGI: 2180801

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69791163-69807749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 69797968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 411 (V411G)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

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

AlphaFold

Q9EPE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034326
AA Change: V411G

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

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: V411G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,143,952	D755G	possibly damaging	Het
A430033K04Rik	A	G	5: 138,646,858	E335G	probably benign	Het
Afp	C	T	5: 90,491,713	S34F	probably damaging	Het
Ano6	T	A	15: 95,949,926	I639N	probably damaging	Het
Cadm2	A	T	16: 66,664,423	C383S	probably damaging	Het
Capn2	T	C	1: 182,477,275	I556V	probably benign	Het
Cd34	A	G	1: 194,959,781	E322G	probably benign	Het
Cel	T	C	2: 28,556,188	D557G	probably benign	Het
Cemip	T	C	7: 83,951,426	I996V	probably benign	Het
Clca3a1	A	T	3: 144,747,421	*514R	probably null	Het
Cry2	C	G	2: 92,426,939	R95P	probably damaging	Het
Ctse	T	A	1: 131,664,380	I148N	probably damaging	Het
Cyp4f13	G	C	17: 32,924,859	P497R	probably damaging	Het
Dsn1	C	T	2: 156,997,720	V254M	probably benign	Het
Gm4847	T	A	1: 166,642,192	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,252,468	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,862,082	D33G	probably damaging	Het
Ints6	A	G	14: 62,705,876	Y455H	probably benign	Het
Kctd1	A	T	18: 14,974,171	C150S	probably damaging	Het
Kctd11	T	G	11: 69,880,051	T54P	probably damaging	Het
Kif1b	C	A	4: 149,192,611	G56*	probably null	Het
Kifap3	T	A	1: 163,829,297		probably null	Het
Naip5	G	T	13: 100,212,739	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,170,164	E1198G	probably damaging	Het
Nova1	T	A	12: 46,713,542	K90*	probably null	Het
Odc1	T	A	12: 17,548,395	L179H	probably damaging	Het
Olfr1490	T	A	19: 13,655,024	H193Q	probably damaging	Het
Olfr1496	A	G	19: 13,781,020	N136S	probably benign	Het
Olfr51	T	C	11: 51,007,050	V26A	probably benign	Het
Palm	C	T	10: 79,806,651	T6I	probably benign	Het
Parp10	T	A	15: 76,233,549	D879V	probably damaging	Het
Phf2	A	G	13: 48,817,705	V497A	unknown	Het
Pparg	A	G	6: 115,463,151	I199V	probably benign	Het
Ppm1b	T	A	17: 84,994,232	I180N	probably damaging	Het
Prdx5	A	T	19: 6,908,174	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,798	T236S	probably damaging	Het
Rab5b	G	A	10: 128,682,907	Q119*	probably null	Het
Rdh19	T	A	10: 127,859,600	W228R	probably damaging	Het
Schip1	G	T	3: 68,494,613	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,665,347	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,936,212	V426D	probably damaging	Het
Syne1	T	A	10: 5,228,896	E4526V	probably damaging	Het
Syne1	T	C	10: 5,318,441	K2083E	probably damaging	Het
Tecta	T	A	9: 42,330,251	I2143F	probably benign	Het
Tfap4	T	C	16: 4,551,306	D90G	probably damaging	Het
Ttll12	T	C	15: 83,577,809	Y569C	probably damaging	Het
Zfp326	T	G	5: 105,888,585	S121A	probably damaging	Het

Other mutations in Atp13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Atp13a1	APN	8	69796897	missense	probably damaging	1.00
IGL00949:Atp13a1	APN	8	69800003	splice site	probably benign
IGL01122:Atp13a1	APN	8	69798905	missense	probably damaging	1.00
IGL02399:Atp13a1	APN	8	69807101	missense	probably damaging	1.00
IGL02616:Atp13a1	APN	8	69805313	missense	probably benign
IGL03073:Atp13a1	APN	8	69798502	missense	probably damaging	1.00
yun_nan	UTSW	8	69798679	missense	probably damaging	1.00
P0005:Atp13a1	UTSW	8	69803747	missense	possibly damaging	0.88
R0086:Atp13a1	UTSW	8	69797774	missense	possibly damaging	0.86
R0384:Atp13a1	UTSW	8	69797324	missense	possibly damaging	0.89
R0973:Atp13a1	UTSW	8	69802144	critical splice donor site	probably null
R0973:Atp13a1	UTSW	8	69802144	critical splice donor site	probably null
R0974:Atp13a1	UTSW	8	69802144	critical splice donor site	probably null
R2010:Atp13a1	UTSW	8	69791360	missense	possibly damaging	0.77
R2040:Atp13a1	UTSW	8	69807052	missense	possibly damaging	0.76
R2069:Atp13a1	UTSW	8	69799773	missense	probably benign	0.00
R4274:Atp13a1	UTSW	8	69805292	missense	probably benign
R4288:Atp13a1	UTSW	8	69794078	missense	possibly damaging	0.89
R4470:Atp13a1	UTSW	8	69798679	missense	probably damaging	1.00
R5408:Atp13a1	UTSW	8	69796840	missense	probably benign	0.41
R5916:Atp13a1	UTSW	8	69807098	missense	probably damaging	1.00
R5920:Atp13a1	UTSW	8	69800096	missense	probably benign	0.02
R5951:Atp13a1	UTSW	8	69797285	missense	probably damaging	1.00
R6143:Atp13a1	UTSW	8	69805360	missense	probably benign
R6467:Atp13a1	UTSW	8	69806774	missense	probably damaging	1.00
R6487:Atp13a1	UTSW	8	69799878	missense	probably damaging	0.99
R7166:Atp13a1	UTSW	8	69799316	splice site	probably null
R7652:Atp13a1	UTSW	8	69805559	missense	probably damaging	0.97
R7942:Atp13a1	UTSW	8	69807220	missense	probably damaging	0.96
R8014:Atp13a1	UTSW	8	69799779	nonsense	probably null
R8228:Atp13a1	UTSW	8	69798919	missense	probably damaging	1.00
R8951:Atp13a1	UTSW	8	69793834	missense	probably benign	0.01
R9000:Atp13a1	UTSW	8	69802075	missense	probably damaging	1.00
R9087:Atp13a1	UTSW	8	69803807	missense	probably damaging	1.00
R9721:Atp13a1	UTSW	8	69799437	missense	probably damaging	1.00
RF001:Atp13a1	UTSW	8	69800070	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CGGCTGCATGTCATCTTTGG -3'
(R):5'- AACCCTGAAGCATTTACCAGAG -3'

Sequencing Primer
(F):5'- CATGTCATCTTTGGGGGCAC -3'
(R):5'- CTTAACATCAAACTCCTGGGAATGG -3'

Posted On

2021-01-18