Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Atp13a4'

24496

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

038500-MU

Accession Numbers

Genbank: NM_001164612, NM_172613, NM_001164613

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29454834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 441 (I441T)

Ref Sequence

ENSEMBL: ENSMUSP00000138479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039090] [ENSMUST00000057018] [ENSMUST00000182013] [ENSMUST00000182627]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039090
AA Change: I441T

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: I441T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	143	8.4e-31	PFAM
Cation_ATPase_N	147	223	1.09e-1	SMART
Pfam:E1-E2_ATPase	229	476	1.7e-36	PFAM
Pfam:Hydrolase	481	769	3.9e-11	PFAM
Pfam:HAD	484	787	4.1e-14	PFAM
Pfam:Hydrolase_like2	574	637	1.2e-9	PFAM
transmembrane domain	824	846	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057018
AA Change: I422T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: I422T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	9.6e-34	PFAM
Cation_ATPase_N	147	223	1.09e-1	SMART
Pfam:E1-E2_ATPase	228	476	1.6e-34	PFAM
Pfam:Hydrolase	481	767	1.1e-10	PFAM
Pfam:HAD	484	858	3.3e-23	PFAM
Pfam:Cation_ATPase	573	637	4.9e-8	PFAM
transmembrane domain	902	924	N/A	INTRINSIC
transmembrane domain	934	951	N/A	INTRINSIC
transmembrane domain	972	994	N/A	INTRINSIC
low complexity region	1014	1023	N/A	INTRINSIC
transmembrane domain	1040	1057	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182013

SMART Domains

Protein: ENSMUSP00000138583
Gene: ENSMUSG00000038094

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	84	4.2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182573
AA Change: I79T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182627
AA Change: I441T

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

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: I441T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	143	2.1e-29	PFAM
Cation_ATPase_N	147	223	1.09e-1	SMART
Pfam:E1-E2_ATPase	229	476	3.9e-35	PFAM
Pfam:Hydrolase	481	861	4.2e-16	PFAM
Pfam:HAD	484	858	1.9e-23	PFAM
Pfam:Hydrolase_like2	574	637	2.2e-8	PFAM
transmembrane domain	902	924	N/A	INTRINSIC
transmembrane domain	934	951	N/A	INTRINSIC
transmembrane domain	972	994	N/A	INTRINSIC
low complexity region	1014	1023	N/A	INTRINSIC
transmembrane domain	1040	1057	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1126	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,378,215	S3429R	probably damaging	Het
Abca3	A	G	17: 24,381,920	D436G	probably benign	Het
Acacb	C	A	5: 114,233,259	Y1816*	probably null	Het
Acer3	T	C	7: 98,261,597	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,447,872	I657V	probably benign	Het
Akap1	A	G	11: 88,845,194	V214A	probably benign	Het
Ankrd42	T	C	7: 92,631,657	R22G	possibly damaging	Het
Apc2	C	T	10: 80,312,813	P1234S	possibly damaging	Het
Cenpu	G	A	8: 46,578,309	A242T	probably damaging	Het
Col6a6	A	T	9: 105,767,288	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,117,531	T58A	probably benign	Het
Ddx6	T	G	9: 44,631,425	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,504,146	N2288K	probably benign	Het
Egfl8	A	T	17: 34,614,368		probably null	Het
Elmo2	A	T	2: 165,297,367	I420N	probably damaging	Het
Elovl4	A	G	9: 83,783,195	F113L	probably benign	Het
Fancd2	T	A	6: 113,548,448		probably null	Het
Fbxl13	A	G	5: 21,523,910	V456A	probably benign	Het
Fgfr2	A	T	7: 130,261,862		probably null	Het
Fkbpl	A	T	17: 34,645,410	R51*	probably null	Het
Fn3krp	G	A	11: 121,421,580	V40M	probably damaging	Het
Fnip1	A	G	11: 54,489,343		probably null	Het
Gm15446	A	T	5: 109,943,415	Q511L	probably benign	Het
Gm7334	A	G	17: 50,699,261	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,473,307	T282S	possibly damaging	Het
Hspa9	A	G	18: 34,940,910	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,013,996	S128T	probably benign	Het
Il7r	A	T	15: 9,516,337	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,570,348	E11G	probably benign	Het
Klkb1	A	C	8: 45,272,409	F498V	probably benign	Het
Lama1	A	G	17: 67,810,183	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,174,435	V71A	probably benign	Het
Lin9	T	C	1: 180,665,923	I198T	probably damaging	Het
Lrrc7	T	A	3: 158,179,795	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,325,387	T519A	probably benign	Het
Olfr1043	A	T	2: 86,162,579	Y123*	probably null	Het
Olfr1247	A	T	2: 89,609,763	L113Q	probably damaging	Het
Olfr1247	G	T	2: 89,609,764	L113M	probably damaging	Het
Olfr1490	C	A	19: 13,654,764	L112I	probably damaging	Het
Olfr1490	T	A	19: 13,654,765	L112H	probably damaging	Het
Olfr412	T	C	11: 74,365,202	F178L	probably damaging	Het
Olfr871	G	T	9: 20,212,886	C179F	probably damaging	Het
Parp4	A	G	14: 56,607,523	R624G	probably damaging	Het
Pex16	C	T	2: 92,381,056	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,439,753	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,800,656	D100N	probably benign	Het
Prss43	T	A	9: 110,827,362	M39K	probably benign	Het
Psd4	T	C	2: 24,394,438	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,817	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rpl10l	A	G	12: 66,284,356	M1T	probably null	Het
Sec16a	A	G	2: 26,428,316	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,374,018	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,088,397	S497T	probably benign	Het
Spata13	A	G	14: 60,692,088	Y365C	probably benign	Het
Trim5	T	C	7: 104,279,675	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,475,024	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,603,006	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,715,717	V198D	probably damaging	Het
Wapl	A	G	14: 34,692,612	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,208,482	H194N	probably benign	Het
Zfp212	C	T	6: 47,926,519	R13W	probably damaging	Het

Other mutations in Atp13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Atp13a4	APN	16	29403778	splice site	probably benign
IGL01577:Atp13a4	APN	16	29441284	missense	possibly damaging	0.77
IGL01834:Atp13a4	APN	16	29415777	splice site	probably benign
IGL02165:Atp13a4	APN	16	29434010	missense	probably damaging	1.00
IGL02194:Atp13a4	APN	16	29456629	missense	probably damaging	1.00
IGL02322:Atp13a4	APN	16	29440102	missense	probably benign	0.00
IGL02553:Atp13a4	APN	16	29422703	missense	probably benign	0.03
IGL02821:Atp13a4	APN	16	29441307	missense	probably benign	0.01
IGL03349:Atp13a4	APN	16	29456671	missense	probably benign	0.01
G5030:Atp13a4	UTSW	16	29455488	missense	probably damaging	1.00
R0091:Atp13a4	UTSW	16	29455395	missense	probably damaging	1.00
R0100:Atp13a4	UTSW	16	29421724	missense	probably damaging	1.00
R1263:Atp13a4	UTSW	16	29471953	missense	possibly damaging	0.60
R1378:Atp13a4	UTSW	16	29420428	missense	probably damaging	1.00
R1575:Atp13a4	UTSW	16	29409710	missense	probably benign	0.01
R1720:Atp13a4	UTSW	16	29408928	missense	probably damaging	0.99
R1759:Atp13a4	UTSW	16	29456611	missense	probably damaging	0.99
R1967:Atp13a4	UTSW	16	29479854	missense	probably damaging	0.99
R2030:Atp13a4	UTSW	16	29422684	missense	probably damaging	1.00
R2113:Atp13a4	UTSW	16	29441284	missense	possibly damaging	0.77
R3409:Atp13a4	UTSW	16	29413749	missense	probably damaging	1.00
R3410:Atp13a4	UTSW	16	29413749	missense	probably damaging	1.00
R4032:Atp13a4	UTSW	16	29418571	missense	probably damaging	1.00
R4163:Atp13a4	UTSW	16	29541250	missense	possibly damaging	0.87
R4652:Atp13a4	UTSW	16	29452603	missense	probably damaging	1.00
R4772:Atp13a4	UTSW	16	29420835	intron	probably benign
R4795:Atp13a4	UTSW	16	29490008	critical splice donor site	probably null
R4898:Atp13a4	UTSW	16	29408961	nonsense	probably null
R4996:Atp13a4	UTSW	16	29472004	missense	probably damaging	1.00
R5112:Atp13a4	UTSW	16	29409868	missense	possibly damaging	0.87
R5259:Atp13a4	UTSW	16	29456610	missense	probably damaging	1.00
R5395:Atp13a4	UTSW	16	29420888	nonsense	probably null
R5395:Atp13a4	UTSW	16	29456604	missense	possibly damaging	0.94
R5640:Atp13a4	UTSW	16	29415831	missense	probably damaging	0.98
R5809:Atp13a4	UTSW	16	29433987	missense	possibly damaging	0.56
R5856:Atp13a4	UTSW	16	29433987	missense	possibly damaging	0.94
R5912:Atp13a4	UTSW	16	29456571	missense	probably benign	0.33
R6282:Atp13a4	UTSW	16	29434004	missense	probably benign	0.00
R6404:Atp13a4	UTSW	16	29471901	nonsense	probably null
R6497:Atp13a4	UTSW	16	29479901	missense	probably damaging	1.00
R6577:Atp13a4	UTSW	16	29479841	missense	probably benign	0.03
R6806:Atp13a4	UTSW	16	29469280	missense	probably damaging	1.00
R7229:Atp13a4	UTSW	16	29420905	missense	probably benign	0.05
R7438:Atp13a4	UTSW	16	29441196	missense
R7493:Atp13a4	UTSW	16	29471956	missense
R7712:Atp13a4	UTSW	16	29459487	missense
R7739:Atp13a4	UTSW	16	29456601	missense
R7897:Atp13a4	UTSW	16	29396466	missense
R7950:Atp13a4	UTSW	16	29449917	missense
R8217:Atp13a4	UTSW	16	29403801	missense
R8227:Atp13a4	UTSW	16	29403845	missense
R8273:Atp13a4	UTSW	16	29471902	missense
R8488:Atp13a4	UTSW	16	29417836	missense	possibly damaging	0.63
R8508:Atp13a4	UTSW	16	29454769	nonsense	probably null
R8773:Atp13a4	UTSW	16	29441580	missense
R8921:Atp13a4	UTSW	16	29454774	missense
R8940:Atp13a4	UTSW	16	29454690	critical splice donor site	probably null
R9056:Atp13a4	UTSW	16	29471888	critical splice donor site	probably null
R9272:Atp13a4	UTSW	16	29449979	missense
R9292:Atp13a4	UTSW	16	29422682	missense
R9415:Atp13a4	UTSW	16	29409003	missense
R9453:Atp13a4	UTSW	16	29420841	missense	unknown
R9497:Atp13a4	UTSW	16	29469312	critical splice acceptor site	probably null
R9541:Atp13a4	UTSW	16	29422726	missense
Z1176:Atp13a4	UTSW	16	29422587	missense	probably null

Predicted Primers

PCR Primer
(F):5'- CCATGACAGTGATGAATGGCCTGG -3'
(R):5'- GCCACCATTGGCATGGTCTATACTC -3'

Sequencing Primer
(F):5'- GATGAATGGCCTGGGACTG -3'
(R):5'- acagacacacacacgcac -3'

Posted On

2013-04-16