Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02346:Atp13a5'

289284

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 #

IGL02346

Quality Score

Status

Chromosome

Chromosomal Location

29050603-29197550 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29146554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 247 (K247*)

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: K292*

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: K292*

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: K292*

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: K292*

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: K247*

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: K247*

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,376,760 (GRCm39)	I1948F	probably damaging	Het
Adgre1	T	C	17: 57,750,919 (GRCm39)	V531A	probably benign	Het
Ano3	A	T	2: 110,601,271 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,257,875 (GRCm39)	F125I	possibly damaging	Het
Arhgap21	A	G	2: 20,884,762 (GRCm39)		probably benign	Het
Col9a1	C	T	1: 24,262,690 (GRCm39)	A585V	probably damaging	Het
Eef1akmt3	A	G	10: 126,868,805 (GRCm39)	V223A	probably benign	Het
Eml1	T	C	12: 108,503,700 (GRCm39)	S766P	possibly damaging	Het
Fam13b	G	T	18: 34,595,158 (GRCm39)	A402E	probably benign	Het
Gad2	A	G	2: 22,519,951 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,274,369 (GRCm39)	E1859G	probably damaging	Het
Gli3	T	G	13: 15,898,278 (GRCm39)	V786G	probably damaging	Het
Gm5592	A	G	7: 40,938,889 (GRCm39)	S724G	probably damaging	Het
Hgs	A	G	11: 120,373,377 (GRCm39)	Y634C	probably damaging	Het
Hoxa3	T	A	6: 52,147,579 (GRCm39)		probably benign	Het
Id4	C	A	13: 48,415,189 (GRCm39)	Y72*	probably null	Het
Il5ra	T	A	6: 106,719,619 (GRCm39)	E71D	probably benign	Het
Kcnh4	G	A	11: 100,647,768 (GRCm39)	T168M	possibly damaging	Het
Kdm3b	A	T	18: 34,967,291 (GRCm39)	I1699L	probably damaging	Het
Madd	A	G	2: 90,992,836 (GRCm39)	Y1048H	probably damaging	Het
Mix23	T	C	16: 35,912,205 (GRCm39)	V87A	probably damaging	Het
Nr2f1	C	A	13: 78,343,527 (GRCm39)	V246L	probably damaging	Het
Oas2	A	T	5: 120,874,153 (GRCm39)	I560N	probably benign	Het
Or1j17	A	T	2: 36,578,016 (GRCm39)	M1L	probably benign	Het
Or1m1	T	C	9: 18,666,065 (GRCm39)	I289V	probably damaging	Het
Or8g19	T	C	9: 39,055,939 (GRCm39)	L181P	probably damaging	Het
Pclo	A	G	5: 14,727,552 (GRCm39)		probably benign	Het
Pdss2	T	C	10: 43,221,639 (GRCm39)	F184L	possibly damaging	Het
Prpf39	C	T	12: 65,104,510 (GRCm39)	T525I	probably benign	Het
Ralgps1	A	T	2: 33,047,782 (GRCm39)		probably null	Het
Rasal3	A	G	17: 32,618,323 (GRCm39)	W161R	probably damaging	Het
Sema5b	T	A	16: 35,470,125 (GRCm39)	V329D	probably damaging	Het
Serpinb9g	A	T	13: 33,670,514 (GRCm39)	M1L	probably benign	Het
Sptb	C	T	12: 76,667,788 (GRCm39)	D770N	probably damaging	Het
Tdp2	T	C	13: 25,025,335 (GRCm39)	V368A	possibly damaging	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Vmn2r130	T	C	17: 23,280,501 (GRCm39)	V54A	possibly damaging	Het
Vmn2r9	T	A	5: 108,990,850 (GRCm39)	N837I	probably benign	Het
Wdr7	A	T	18: 63,998,407 (GRCm39)	E1118V	probably benign	Het
Wwox	A	G	8: 115,438,858 (GRCm39)	H308R	probably benign	Het
Zbtb41	C	A	1: 139,374,838 (GRCm39)	P766Q	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
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
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

2015-04-16