Mutagenetix > Incidental Mutation

Incidental Mutation 'R1958:Atp13a5'

218073

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

039972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29050603-29197550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29133419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 411 (Y411H)

Ref Sequence

ENSEMBL: ENSMUSP00000121208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373]

AlphaFold

Q3TYU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075806
AA Change: Y456H

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

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: Y456H

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	4.1e-31	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	228	475	1.5e-35	PFAM
Pfam:Hydrolase	480	759	2.7e-11	PFAM
Pfam:HAD	483	857	1.1e-28	PFAM
Pfam:Cation_ATPase	564	638	1.3e-6	PFAM
transmembrane domain	901	923	N/A	INTRINSIC
transmembrane domain	933	950	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC
transmembrane domain	1042	1061	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142681
AA Change: Y456H

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

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: Y456H

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	7.5e-25	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	229	475	1e-36	PFAM
Pfam:Hydrolase	480	860	5.9e-16	PFAM
Pfam:HAD	483	857	4e-27	PFAM
Pfam:Hydrolase_like2	565	638	3.7e-8	PFAM
transmembrane domain	901	923	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143373
AA Change: Y411H

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

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: Y411H

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	1e-24	PFAM
Pfam:E1-E2_ATPase	196	430	3.2e-34	PFAM
Pfam:Hydrolase	435	815	9.1e-16	PFAM
Pfam:HAD	438	812	6.2e-27	PFAM
Pfam:Hydrolase_like2	520	593	4.8e-8	PFAM
transmembrane domain	856	878	N/A	INTRINSIC
transmembrane domain	888	905	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
transmembrane domain	997	1016	N/A	INTRINSIC
transmembrane domain	1025	1047	N/A	INTRINSIC
transmembrane domain	1062	1084	N/A	INTRINSIC

Meta Mutation Damage Score

0.6134

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (99/102)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,457,146 (GRCm39)	N155I	probably benign	Het
Abca14	A	G	7: 119,924,382 (GRCm39)	Y1678C	probably damaging	Het
Adamts19	A	T	18: 59,103,078 (GRCm39)	R706S	probably benign	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Adss2	A	G	1: 177,597,544 (GRCm39)	I372T	probably damaging	Het
Arhgap15	T	A	2: 44,133,136 (GRCm39)	D347E	possibly damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Asb8	T	C	15: 98,034,097 (GRCm39)	T153A	possibly damaging	Het
Aspscr1	G	T	11: 120,580,034 (GRCm39)	G191V	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Cadm1	T	G	9: 47,761,633 (GRCm39)	I411S	probably damaging	Het
Cdh23	T	A	10: 60,246,652 (GRCm39)	M927L	probably benign	Het
Cdk15	A	T	1: 59,383,475 (GRCm39)	R423W	probably damaging	Het
Cep250	T	A	2: 155,818,301 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Cfap54	T	C	10: 92,833,204 (GRCm39)	S1141G	probably benign	Het
Clnk	T	C	5: 38,863,969 (GRCm39)	Y428C	possibly damaging	Het
Cnksr1	A	G	4: 133,955,727 (GRCm39)	S668P	probably benign	Het
Cpxm2	A	T	7: 131,663,876 (GRCm39)	I349N	probably damaging	Het
Csmd3	A	G	15: 47,868,035 (GRCm39)		probably null	Het
Cstdc3	T	C	16: 36,132,927 (GRCm39)	L68P	possibly damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dph2	A	T	4: 117,749,041 (GRCm39)	F5I	probably damaging	Het
Dst	T	A	1: 34,202,802 (GRCm39)	F325L	probably damaging	Het
Edem3	T	C	1: 151,680,076 (GRCm39)	L474S	probably damaging	Het
Emilin1	T	A	5: 31,075,160 (GRCm39)	L467Q	probably benign	Het
Fam170a	G	A	18: 50,415,181 (GRCm39)	E276K	probably benign	Het
Farp1	A	T	14: 121,456,787 (GRCm39)		probably null	Het
Fbrs	A	T	7: 127,085,163 (GRCm39)	T584S	possibly damaging	Het
Fbxo22	T	A	9: 55,116,626 (GRCm39)		probably null	Het
Fhod3	T	G	18: 25,223,522 (GRCm39)	L956R	probably damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm11444	A	T	11: 85,738,999 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,011,497 (GRCm39)	I316M	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Hdhd2	A	G	18: 77,052,841 (GRCm39)	T164A	probably benign	Het
Hoxb9	T	A	11: 96,162,880 (GRCm39)	D171E	possibly damaging	Het
Hpx	A	G	7: 105,245,603 (GRCm39)	Y118H	probably damaging	Het
Iqsec1	T	C	6: 90,647,441 (GRCm39)	K858E	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lama2	C	A	10: 26,857,594 (GRCm39)	R3085L	probably damaging	Het
Lyst	C	A	13: 13,791,203 (GRCm39)	A22E	probably damaging	Het
Man2a1	T	C	17: 65,057,830 (GRCm39)	F1079L	probably benign	Het
Marco	C	T	1: 120,412,593 (GRCm39)	G303R	probably damaging	Het
Marveld2	A	C	13: 100,733,858 (GRCm39)	I536R	probably damaging	Het
Mcm5	A	G	8: 75,848,257 (GRCm39)	D502G	probably benign	Het
Mdga1	A	T	17: 30,059,862 (GRCm39)	L653Q	probably damaging	Het
Mical2	A	G	7: 111,980,311 (GRCm39)	D161G	probably benign	Het
Mroh2a	C	T	1: 88,165,213 (GRCm39)	R445*	probably null	Het
Mrpl46	A	T	7: 78,431,146 (GRCm39)		probably null	Het
Nckipsd	C	A	9: 108,691,863 (GRCm39)		probably null	Het
Nek11	T	C	9: 105,170,916 (GRCm39)	D373G	probably benign	Het
Nle1	G	A	11: 82,795,068 (GRCm39)	S321F	probably benign	Het
Noxa1	A	G	2: 24,980,620 (GRCm39)	S130P	probably damaging	Het
Or10a5	A	G	7: 106,635,478 (GRCm39)	T39A	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5l13	A	T	2: 87,779,809 (GRCm39)	L256H	probably damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Parp3	T	G	9: 106,352,021 (GRCm39)		probably null	Het
Pask	A	T	1: 93,249,180 (GRCm39)	I740N	probably benign	Het
Pelp1	A	G	11: 70,289,347 (GRCm39)	F221S	probably damaging	Het
Pkd1l1	T	G	11: 8,824,161 (GRCm39)	K1135Q	probably benign	Het
Plcl2	A	T	17: 50,915,109 (GRCm39)	Q706L	probably damaging	Het
Psg26	T	C	7: 18,212,264 (GRCm39)	T364A	probably benign	Het
Ptprb	C	T	10: 116,177,441 (GRCm39)	T1047M	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab37	C	T	11: 115,051,177 (GRCm39)	A155V	probably damaging	Het
Rbbp6	A	C	7: 122,601,168 (GRCm39)		probably benign	Het
Rbmxl2	A	G	7: 106,809,405 (GRCm39)	D230G	probably benign	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,115 (GRCm39)		probably benign	Het
Sass6	G	T	3: 116,403,945 (GRCm39)	K194N	possibly damaging	Het
Sgpp1	T	G	12: 75,782,222 (GRCm39)	D39A	probably benign	Het
Shank3	T	C	15: 89,387,351 (GRCm39)	V198A	probably damaging	Het
Sin3a	T	A	9: 57,012,893 (GRCm39)	S591T	probably damaging	Het
Slc12a6	C	T	2: 112,185,503 (GRCm39)	T924I	possibly damaging	Het
Sln	T	A	9: 53,760,785 (GRCm39)	I10N	probably benign	Het
St3gal3	A	T	4: 117,797,268 (GRCm39)	M309K	probably damaging	Het
Syne2	T	A	12: 76,016,319 (GRCm39)	D3301E	probably benign	Het
Tgtp2	A	G	11: 48,949,919 (GRCm39)	S218P	probably damaging	Het
Tha1	C	T	11: 117,760,179 (GRCm39)		probably benign	Het
Tmem102	A	G	11: 69,695,225 (GRCm39)	V249A	probably benign	Het
Top3b	G	A	16: 16,702,166 (GRCm39)	E268K	possibly damaging	Het
Trip4	T	C	9: 65,746,307 (GRCm39)	S530G	possibly damaging	Het
Tut1	T	A	19: 8,936,677 (GRCm39)	V167E	probably damaging	Het
Tut4	A	T	4: 108,412,903 (GRCm39)	S1535C	probably damaging	Het
Ube2u	A	T	4: 100,338,833 (GRCm39)	M33L	probably benign	Het
Unc79	T	C	12: 102,957,621 (GRCm39)	I12T	probably damaging	Het
Unc79	A	T	12: 103,041,178 (GRCm39)	D737V	probably benign	Het
Vmn1r26	A	G	6: 57,985,286 (GRCm39)	V301A	probably benign	Het
Vmn1r86	A	G	7: 12,836,621 (GRCm39)	V35A	possibly damaging	Het
Vmn2r98	A	C	17: 19,286,680 (GRCm39)	N393H	possibly damaging	Het
Vps13b	T	G	15: 35,878,835 (GRCm39)	S2945A	probably damaging	Het
Whrn	C	T	4: 63,353,666 (GRCm39)	R367H	possibly damaging	Het
Zfp235	A	T	7: 23,839,771 (GRCm39)	L133F	probably damaging	Het
Zfp74	T	C	7: 29,635,136 (GRCm39)	T191A	probably benign	Het
Zfp943	A	T	17: 22,211,979 (GRCm39)	K355I	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zscan29	A	T	2: 121,000,289 (GRCm39)		probably null	Het

Other mutations in Atp13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp13a5	APN	16	29,085,766 (GRCm39)	nonsense	probably null
IGL00583:Atp13a5	APN	16	29,094,205 (GRCm39)	splice site	probably benign
IGL01472:Atp13a5	APN	16	29,094,175 (GRCm39)	missense	probably damaging	1.00
IGL01473:Atp13a5	APN	16	29,135,542 (GRCm39)	missense	probably damaging	1.00
IGL02142:Atp13a5	APN	16	29,053,315 (GRCm39)	missense	probably benign	0.01
IGL02346:Atp13a5	APN	16	29,146,554 (GRCm39)	nonsense	probably null
IGL02454:Atp13a5	APN	16	29,051,560 (GRCm39)	missense	probably benign	0.35
IGL02557:Atp13a5	APN	16	29,066,934 (GRCm39)	missense	probably benign	0.24
IGL02651:Atp13a5	APN	16	29,152,909 (GRCm39)	splice site	probably benign
IGL02697:Atp13a5	APN	16	29,167,350 (GRCm39)	missense	probably benign
IGL02704:Atp13a5	APN	16	29,070,080 (GRCm39)	nonsense	probably null
IGL02993:Atp13a5	APN	16	29,112,322 (GRCm39)	nonsense	probably null
IGL03329:Atp13a5	APN	16	29,152,883 (GRCm39)	nonsense	probably null
IGL03346:Atp13a5	APN	16	29,133,422 (GRCm39)	missense	probably benign	0.15
IGL03493:Atp13a5	APN	16	29,116,342 (GRCm39)	missense	probably benign
PIT4810001:Atp13a5	UTSW	16	29,133,382 (GRCm39)	missense	probably damaging	1.00
R0356:Atp13a5	UTSW	16	29,167,573 (GRCm39)	splice site	probably benign
R0393:Atp13a5	UTSW	16	29,085,681 (GRCm39)	splice site	probably benign
R0456:Atp13a5	UTSW	16	29,051,492 (GRCm39)	missense	probably benign	0.03
R0526:Atp13a5	UTSW	16	29,167,558 (GRCm39)	missense	probably damaging	0.97
R0632:Atp13a5	UTSW	16	29,117,026 (GRCm39)	missense	probably benign	0.00
R0674:Atp13a5	UTSW	16	29,067,102 (GRCm39)	splice site	probably benign
R1417:Atp13a5	UTSW	16	29,117,053 (GRCm39)	missense	probably benign	0.00
R1470:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.19
R1470:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.19
R1515:Atp13a5	UTSW	16	29,152,792 (GRCm39)	missense	probably benign	0.23
R1659:Atp13a5	UTSW	16	29,112,251 (GRCm39)	missense	probably benign
R1723:Atp13a5	UTSW	16	29,051,551 (GRCm39)	missense	possibly damaging	0.88
R1779:Atp13a5	UTSW	16	29,133,478 (GRCm39)	missense	possibly damaging	0.67
R1794:Atp13a5	UTSW	16	29,140,527 (GRCm39)	missense	probably damaging	1.00
R2218:Atp13a5	UTSW	16	29,140,464 (GRCm39)	missense	probably damaging	0.99
R2282:Atp13a5	UTSW	16	29,056,073 (GRCm39)	missense	probably damaging	1.00
R2356:Atp13a5	UTSW	16	29,099,887 (GRCm39)	missense	probably damaging	1.00
R2365:Atp13a5	UTSW	16	29,070,008 (GRCm39)	missense	probably benign	0.00
R2497:Atp13a5	UTSW	16	29,157,889 (GRCm39)	nonsense	probably null
R2517:Atp13a5	UTSW	16	29,116,215 (GRCm39)	missense	possibly damaging	0.79
R3552:Atp13a5	UTSW	16	29,129,584 (GRCm39)	missense	probably damaging	1.00
R3685:Atp13a5	UTSW	16	29,135,573 (GRCm39)	missense	probably damaging	1.00
R3957:Atp13a5	UTSW	16	29,117,012 (GRCm39)	missense	probably benign	0.01
R4433:Atp13a5	UTSW	16	29,100,842 (GRCm39)	missense	probably damaging	0.99
R4503:Atp13a5	UTSW	16	29,112,346 (GRCm39)	missense	probably benign	0.37
R4579:Atp13a5	UTSW	16	29,067,090 (GRCm39)	critical splice acceptor site	probably null
R4632:Atp13a5	UTSW	16	29,167,537 (GRCm39)	missense	probably damaging	1.00
R4718:Atp13a5	UTSW	16	29,066,922 (GRCm39)	missense	probably damaging	1.00
R4865:Atp13a5	UTSW	16	29,066,912 (GRCm39)	missense	probably damaging	0.98
R4899:Atp13a5	UTSW	16	29,197,318 (GRCm39)	missense	probably damaging	1.00
R4909:Atp13a5	UTSW	16	29,152,846 (GRCm39)	missense	possibly damaging	0.81
R5011:Atp13a5	UTSW	16	29,169,566 (GRCm39)	missense	probably damaging	1.00
R5013:Atp13a5	UTSW	16	29,169,566 (GRCm39)	missense	probably damaging	1.00
R5032:Atp13a5	UTSW	16	29,082,202 (GRCm39)	missense	probably damaging	1.00
R5226:Atp13a5	UTSW	16	29,067,031 (GRCm39)	missense	probably damaging	1.00
R5485:Atp13a5	UTSW	16	29,100,760 (GRCm39)	critical splice donor site	probably null
R5598:Atp13a5	UTSW	16	29,075,829 (GRCm39)	intron	probably benign
R5945:Atp13a5	UTSW	16	29,055,995 (GRCm39)	missense	probably benign	0.06
R5958:Atp13a5	UTSW	16	29,157,860 (GRCm39)	missense	probably damaging	1.00
R6194:Atp13a5	UTSW	16	29,127,057 (GRCm39)	missense	probably damaging	1.00
R6214:Atp13a5	UTSW	16	29,070,159 (GRCm39)	missense	probably damaging	1.00
R6273:Atp13a5	UTSW	16	29,167,555 (GRCm39)	missense	probably benign	0.10
R6376:Atp13a5	UTSW	16	29,056,004 (GRCm39)	missense	probably benign	0.00
R6431:Atp13a5	UTSW	16	29,070,154 (GRCm39)	missense	possibly damaging	0.93
R6495:Atp13a5	UTSW	16	29,140,440 (GRCm39)	critical splice donor site	probably null
R6619:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.05
R6853:Atp13a5	UTSW	16	29,140,480 (GRCm39)	missense	possibly damaging	0.94
R6932:Atp13a5	UTSW	16	29,100,769 (GRCm39)	missense	probably damaging	1.00
R7070:Atp13a5	UTSW	16	29,152,879 (GRCm39)	missense	possibly damaging	0.88
R7343:Atp13a5	UTSW	16	29,140,567 (GRCm39)	missense	probably benign	0.01
R7425:Atp13a5	UTSW	16	29,116,278 (GRCm39)	nonsense	probably null
R7570:Atp13a5	UTSW	16	29,085,715 (GRCm39)	missense	probably damaging	1.00
R7781:Atp13a5	UTSW	16	29,116,226 (GRCm39)	missense	probably benign	0.00
R7876:Atp13a5	UTSW	16	29,140,566 (GRCm39)	missense	possibly damaging	0.93
R8358:Atp13a5	UTSW	16	29,167,805 (GRCm39)	missense	probably damaging	1.00
R8427:Atp13a5	UTSW	16	29,167,820 (GRCm39)	missense	possibly damaging	0.65
R8435:Atp13a5	UTSW	16	29,099,747 (GRCm39)	critical splice donor site	probably null
R8830:Atp13a5	UTSW	16	29,066,928 (GRCm39)	missense	probably damaging	1.00
R8946:Atp13a5	UTSW	16	29,146,601 (GRCm39)	missense	probably damaging	0.99
R8950:Atp13a5	UTSW	16	29,197,314 (GRCm39)	missense	probably damaging	1.00
R9222:Atp13a5	UTSW	16	29,133,472 (GRCm39)	missense	probably damaging	1.00
R9454:Atp13a5	UTSW	16	29,133,338 (GRCm39)	missense	possibly damaging	0.55
R9756:Atp13a5	UTSW	16	29,051,583 (GRCm39)	frame shift	probably null
R9769:Atp13a5	UTSW	16	29,167,513 (GRCm39)	nonsense	probably null
R9797:Atp13a5	UTSW	16	29,133,491 (GRCm39)	missense	probably benign	0.00
X0023:Atp13a5	UTSW	16	29,129,600 (GRCm39)	missense	probably damaging	1.00
Z1088:Atp13a5	UTSW	16	29,100,880 (GRCm39)	missense	probably benign	0.06
Z1177:Atp13a5	UTSW	16	29,099,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACCGCCTTCCTCTGTAACTG -3'
(R):5'- TGCCAAGTGTTATAGGAGGC -3'

Sequencing Primer
(F):5'- GAATGTTAGGAAAGCCGTTCTC -3'
(R):5'- CCAAGTGTTATAGGAGGCAGCTG -3'

Posted On

2014-08-01