Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02993:Atp13a5'

407031

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02993

Quality Score

Status

Chromosome

Chromosomal Location

29050603-29197550 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 29112322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 606 (Y606*)

Ref Sequence

ENSEMBL: ENSMUSP00000121208 (fasta)

Gene Model

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

AlphaFold

Q3TYU2

Predicted Effect

probably null
Transcript: ENSMUST00000075806
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: Y651*

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 null
Transcript: ENSMUST00000142681
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: Y651*

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 null
Transcript: ENSMUST00000143373
AA Change: Y606*

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: Y606*

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

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,567,659 (GRCm39)	I434S	probably benign	Het
Actr2	C	T	11: 20,022,514 (GRCm39)	R319Q	probably damaging	Het
Baiap3	C	T	17: 25,469,056 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,227,396 (GRCm39)	Y8C	probably benign	Het
Ces1g	T	A	8: 94,043,707 (GRCm39)	M411L	probably benign	Het
Chd6	A	G	2: 160,894,304 (GRCm39)		probably benign	Het
Cyp2d40	C	A	15: 82,645,722 (GRCm39)	K94N	probably benign	Het
Ddx51	T	C	5: 110,803,487 (GRCm39)	V323A	possibly damaging	Het
Dock1	G	A	7: 134,346,027 (GRCm39)	V190I	probably benign	Het
Evc2	A	G	5: 37,576,501 (GRCm39)	T1042A	probably benign	Het
Fat4	T	A	3: 39,011,304 (GRCm39)	S2135T	probably damaging	Het
Gpat2	T	C	2: 127,269,486 (GRCm39)	F46S	probably damaging	Het
Klhl38	T	A	15: 58,185,851 (GRCm39)	K293*	probably null	Het
Map4k4	T	C	1: 40,053,348 (GRCm39)	I916T	probably damaging	Het
Nrap	T	A	19: 56,333,965 (GRCm39)	K964M	probably damaging	Het
Osbpl5	T	C	7: 143,253,071 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,302,236 (GRCm39)	Q260R	probably benign	Het
Ralgapb	T	A	2: 158,279,314 (GRCm39)	N133K	possibly damaging	Het
Scart2	A	G	7: 139,876,486 (GRCm39)	T537A	probably benign	Het
Slfn9	T	C	11: 82,872,022 (GRCm39)	S905G	probably benign	Het
Spata31g1	T	C	4: 42,971,719 (GRCm39)	Y351H	probably damaging	Het
Ssh2	C	T	11: 77,344,370 (GRCm39)	T785I	probably damaging	Het
Stk16	C	A	1: 75,189,648 (GRCm39)	Q69K	probably damaging	Het
Stk36	T	C	1: 74,661,446 (GRCm39)	L491P	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcp11	T	C	17: 28,289,490 (GRCm39)	N194D	probably damaging	Het
Trio	C	A	15: 27,830,325 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,069,850 (GRCm39)	V297A	possibly damaging	Het
Ugt2b5	T	G	5: 87,285,091 (GRCm39)	H282P	probably damaging	Het
Usp53	A	G	3: 122,727,492 (GRCm39)	M1030T	probably damaging	Het
Vmn1r234	T	A	17: 21,449,965 (GRCm39)	I293N	probably damaging	Het
Vmn2r57	T	A	7: 41,077,498 (GRCm39)	T223S	probably benign	Het
Wdr20	G	T	12: 110,760,742 (GRCm39)	E543*	probably null	Het
Zbtb25	T	A	12: 76,396,191 (GRCm39)	N344Y	probably damaging	Het
Zcchc2	T	C	1: 105,957,898 (GRCm39)	F790L	probably damaging	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
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
R1958:Atp13a5	UTSW	16	29,133,419 (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

Posted On

2016-08-02