Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Atp13a4'

151682

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

039330-MU

Accession Numbers

Genbank: NM_001164612, NM_172613, NM_001164613

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29471953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 226 (Y226F)

Ref Sequence

ENSEMBL: ENSMUSP00000048753 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039090
AA Change: Y226F

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: Y226F

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 benign
Transcript: ENSMUST00000057018
AA Change: Y226F

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: Y226F

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 benign
Transcript: ENSMUST00000182627
AA Change: Y226F

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: Y226F

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	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
R0278:Atp13a4	UTSW	16	29454834	missense	probably damaging	1.00
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
R9614:Atp13a4	UTSW	16	29441580	missense
R9622:Atp13a4	UTSW	16	29420459	missense
R9727:Atp13a4	UTSW	16	29409771	missense
Z1176:Atp13a4	UTSW	16	29422587	missense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCAAGGAACCCCTAGTAAGCAG -3'
(R):5'- ACAAGAAGCAGAGCCTATTGTGTGG -3'

Sequencing Primer
(F):5'- CCATCTTCTGAAGGACTGGG -3'
(R):5'- AGCCTATTGTGTGGGGTGATTG -3'

Posted On

2014-01-29