Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Atp13a5'

673776

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29231851-29378732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29248176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1060 (F1060I)

Ref Sequence

ENSEMBL: ENSMUSP00000075204 (fasta)

Gene Model

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

AlphaFold

Q3TYU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075806
AA Change: F1060I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: F1060I

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 benign
Transcript: ENSMUST00000142681

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939

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: F1015I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: F1015I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	G	A	13: 64,297,300	Q170*	probably null	Het
Abca7	T	A	10: 80,008,971	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,883,356	D376G	probably damaging	Het
Agbl1	A	G	7: 76,335,311	T159A		Het
Ahnak2	G	A	12: 112,787,036	R89W		Het
Arhgef40	A	C	14: 52,003,708	D1396A	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,545	F105I	probably damaging	Het
Atp9b	C	T	18: 80,765,800	E635K		Het
BC017643	C	T	11: 121,228,723		probably benign	Het
Brix1	T	A	15: 10,479,596	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,230,418		probably benign	Het
Cfap46	A	G	7: 139,615,649	S2208P	unknown	Het
Crisp1	T	A	17: 40,294,419	K234*	probably null	Het
Cryzl1	C	T	16: 91,712,204	V70I	probably benign	Het
Dnah7b	T	C	1: 46,191,793	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,771,199	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,309,508	H329P	unknown	Het
Erbb4	A	T	1: 68,075,468	L939Q	probably damaging	Het
Fst	A	T	13: 114,455,828	C118S	probably damaging	Het
Gfra3	A	G	18: 34,711,136	V117A	possibly damaging	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Gm5538	A	T	3: 59,747,323	T193S	probably benign	Het
Gm996	T	G	2: 25,577,250	D883A		Het
Greb1	A	G	12: 16,688,519	M1481T	probably benign	Het
Hecw2	G	A	1: 53,891,146	R1045C	probably damaging	Het
Hexb	C	T	13: 97,194,254	V84I	probably benign	Het
Hpse	T	C	5: 100,695,586	E240G	probably benign	Het
Hspa12a	T	C	19: 58,805,463	D322G	possibly damaging	Het
Hspa9	A	T	18: 34,948,104		probably null	Het
Kif9	A	G	9: 110,524,930	K790R	probably damaging	Het
Klc2	C	T	19: 5,110,366		probably null	Het
Ldha	C	G	7: 46,850,278	N144K	probably benign	Het
Micalcl	A	G	7: 112,381,196	T126A	probably benign	Het
Mrpl15	A	T	1: 4,782,584	V137D	probably damaging	Het
Muc16	G	A	9: 18,646,069	T2976I	unknown	Het
Mybpc2	A	T	7: 44,512,541	V495D	probably damaging	Het
Olfr597	A	G	7: 103,321,005	K198R		Het
Olfr713	A	G	7: 107,036,682	N176D	probably benign	Het
Olfr772	A	T	10: 129,174,846	Y58*	probably null	Het
Pcnt	G	A	10: 76,382,174	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,033,073	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,350,603	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,521,803	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,378,498	T84S		Het
Ptprq	A	G	10: 107,586,695	V1612A	possibly damaging	Het
Pvrig	T	G	5: 138,342,148		probably benign	Het
Rasl10b	A	T	11: 83,412,676	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,209,006	V98E	probably damaging	Het
Rims2	T	C	15: 39,437,362	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,736,015	H30R	probably benign	Het
Slc28a1	G	A	7: 81,161,046	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,644,574		probably benign	Het
Spag17	T	A	3: 100,125,435	H2320Q	possibly damaging	Het
Speer4a	T	C	5: 26,036,795	E111G	possibly damaging	Het
Ss18l1	T	C	2: 180,067,338	Y397H	unknown	Het
Tbck	T	C	3: 132,838,057	S890P	probably damaging	Het
Tcp11	T	C	17: 28,080,230	E17G	probably benign	Het
Tesk2	C	T	4: 116,802,287	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383	N45S	probably benign	Het
Trim10	C	T	17: 36,869,954	P26S	probably damaging	Het
Vmac	C	A	17: 56,715,573	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,234,032	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,244,836	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 12,153,191	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,466,862	Q261*	probably null	Het
Ybx2	A	G	11: 69,936,237	K88R	probably benign	Het
Zfhx4	G	A	3: 5,398,889	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,774,927	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,223,316	E650G	possibly damaging	Het

Other mutations in Atp13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp13a5	APN	16	29267014	nonsense	probably null
IGL00583:Atp13a5	APN	16	29275453	splice site	probably benign
IGL01472:Atp13a5	APN	16	29275423	missense	probably damaging	1.00
IGL01473:Atp13a5	APN	16	29316724	missense	probably damaging	1.00
IGL02142:Atp13a5	APN	16	29234563	missense	probably benign	0.01
IGL02346:Atp13a5	APN	16	29327736	nonsense	probably null
IGL02454:Atp13a5	APN	16	29232808	missense	probably benign	0.35
IGL02557:Atp13a5	APN	16	29248182	missense	probably benign	0.24
IGL02651:Atp13a5	APN	16	29334091	splice site	probably benign
IGL02697:Atp13a5	APN	16	29348532	missense	probably benign
IGL02704:Atp13a5	APN	16	29251328	nonsense	probably null
IGL02993:Atp13a5	APN	16	29293504	nonsense	probably null
IGL03329:Atp13a5	APN	16	29334065	nonsense	probably null
IGL03346:Atp13a5	APN	16	29314604	missense	probably benign	0.15
IGL03493:Atp13a5	APN	16	29297524	missense	probably benign
PIT4810001:Atp13a5	UTSW	16	29314564	missense	probably damaging	1.00
R0356:Atp13a5	UTSW	16	29348755	splice site	probably benign
R0393:Atp13a5	UTSW	16	29266929	splice site	probably benign
R0456:Atp13a5	UTSW	16	29232740	missense	probably benign	0.03
R0526:Atp13a5	UTSW	16	29348740	missense	probably damaging	0.97
R0632:Atp13a5	UTSW	16	29298208	missense	probably benign	0.00
R0674:Atp13a5	UTSW	16	29248350	splice site	probably benign
R1417:Atp13a5	UTSW	16	29298235	missense	probably benign	0.00
R1470:Atp13a5	UTSW	16	29349015	missense	probably benign	0.19
R1470:Atp13a5	UTSW	16	29349015	missense	probably benign	0.19
R1515:Atp13a5	UTSW	16	29333974	missense	probably benign	0.23
R1659:Atp13a5	UTSW	16	29293433	missense	probably benign
R1723:Atp13a5	UTSW	16	29232799	missense	possibly damaging	0.88
R1779:Atp13a5	UTSW	16	29314660	missense	possibly damaging	0.67
R1794:Atp13a5	UTSW	16	29321709	missense	probably damaging	1.00
R1958:Atp13a5	UTSW	16	29314601	missense	probably damaging	1.00
R2218:Atp13a5	UTSW	16	29321646	missense	probably damaging	0.99
R2282:Atp13a5	UTSW	16	29237321	missense	probably damaging	1.00
R2356:Atp13a5	UTSW	16	29281069	missense	probably damaging	1.00
R2365:Atp13a5	UTSW	16	29251256	missense	probably benign	0.00
R2497:Atp13a5	UTSW	16	29339071	nonsense	probably null
R2517:Atp13a5	UTSW	16	29297397	missense	possibly damaging	0.79
R3552:Atp13a5	UTSW	16	29310766	missense	probably damaging	1.00
R3685:Atp13a5	UTSW	16	29316755	missense	probably damaging	1.00
R3957:Atp13a5	UTSW	16	29298194	missense	probably benign	0.01
R4433:Atp13a5	UTSW	16	29282024	missense	probably damaging	0.99
R4503:Atp13a5	UTSW	16	29293528	missense	probably benign	0.37
R4579:Atp13a5	UTSW	16	29248338	critical splice acceptor site	probably null
R4632:Atp13a5	UTSW	16	29348719	missense	probably damaging	1.00
R4718:Atp13a5	UTSW	16	29248170	missense	probably damaging	1.00
R4865:Atp13a5	UTSW	16	29248160	missense	probably damaging	0.98
R4899:Atp13a5	UTSW	16	29378500	missense	probably damaging	1.00
R4909:Atp13a5	UTSW	16	29334028	missense	possibly damaging	0.81
R5011:Atp13a5	UTSW	16	29350748	missense	probably damaging	1.00
R5013:Atp13a5	UTSW	16	29350748	missense	probably damaging	1.00
R5032:Atp13a5	UTSW	16	29263450	missense	probably damaging	1.00
R5226:Atp13a5	UTSW	16	29248279	missense	probably damaging	1.00
R5485:Atp13a5	UTSW	16	29281942	critical splice donor site	probably null
R5598:Atp13a5	UTSW	16	29257077	intron	probably benign
R5945:Atp13a5	UTSW	16	29237243	missense	probably benign	0.06
R5958:Atp13a5	UTSW	16	29339042	missense	probably damaging	1.00
R6194:Atp13a5	UTSW	16	29308239	missense	probably damaging	1.00
R6214:Atp13a5	UTSW	16	29251407	missense	probably damaging	1.00
R6273:Atp13a5	UTSW	16	29348737	missense	probably benign	0.10
R6376:Atp13a5	UTSW	16	29237252	missense	probably benign	0.00
R6431:Atp13a5	UTSW	16	29251402	missense	possibly damaging	0.93
R6495:Atp13a5	UTSW	16	29321622	critical splice donor site	probably null
R6619:Atp13a5	UTSW	16	29349015	missense	probably benign	0.05
R6853:Atp13a5	UTSW	16	29321662	missense	possibly damaging	0.94
R6932:Atp13a5	UTSW	16	29281951	missense	probably damaging	1.00
R7070:Atp13a5	UTSW	16	29334061	missense	possibly damaging	0.88
R7343:Atp13a5	UTSW	16	29321749	missense	probably benign	0.01
R7425:Atp13a5	UTSW	16	29297460	nonsense	probably null
R7570:Atp13a5	UTSW	16	29266963	missense	probably damaging	1.00
R7781:Atp13a5	UTSW	16	29297408	missense	probably benign	0.00
R7876:Atp13a5	UTSW	16	29321748	missense	possibly damaging	0.93
R8358:Atp13a5	UTSW	16	29348987	missense	probably damaging	1.00
R8427:Atp13a5	UTSW	16	29349002	missense	possibly damaging	0.65
R8435:Atp13a5	UTSW	16	29280929	critical splice donor site	probably null
R8946:Atp13a5	UTSW	16	29327783	missense	probably damaging	0.99
R8950:Atp13a5	UTSW	16	29378496	missense	probably damaging	1.00
R9222:Atp13a5	UTSW	16	29314654	missense	probably damaging	1.00
R9454:Atp13a5	UTSW	16	29314520	missense	possibly damaging	0.55
X0023:Atp13a5	UTSW	16	29310782	missense	probably damaging	1.00
Z1088:Atp13a5	UTSW	16	29282062	missense	probably benign	0.06
Z1177:Atp13a5	UTSW	16	29280969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGCTAAGACCACTTTATTCAG -3'
(R):5'- AAAGCTGAAGTCACCTGGTAG -3'

Sequencing Primer
(F):5'- CAGTTATCATGCCAAAGAGATGC -3'
(R):5'- GCATAGACAGTTTTCATAATGCTGG -3'

Posted On

2021-07-15