Mutagenetix > Incidental Mutation

Incidental Mutation 'R9056:Atp13a4'

688713

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

068882-MU

Accession Numbers

Genbank: NM_001164612, NM_172613, NM_001164613

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9056 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 29471888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060987 (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

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094

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 null
Transcript: ENSMUST00000057018

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094

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

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,624,472	R782C	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,267	T1970A	probably benign	Het
Abca13	T	C	11: 9,464,921	I3996T	probably damaging	Het
Adgra1	A	G	7: 139,852,576	N110S	probably damaging	Het
Arhgap31	T	C	16: 38,606,655	T612A	probably benign	Het
C1rb	T	C	6: 124,577,025	S352P	probably damaging	Het
Cc2d2b	T	C	19: 40,795,772	I671T	unknown	Het
Cmas	A	G	6: 142,764,379	D116G	probably damaging	Het
Col24a1	T	C	3: 145,315,248	V460A	probably damaging	Het
Cubn	T	G	2: 13,456,655	D687A	probably damaging	Het
Cul9	A	C	17: 46,543,770	V2G	probably damaging	Het
Elp3	T	C	14: 65,560,133	Y382C	probably damaging	Het
Fbxo11	A	T	17: 88,002,821	I443K		Het
Fdps	G	A	3: 89,099,332	R84W	probably benign	Het
Helz	C	T	11: 107,656,193	A1112V	possibly damaging	Het
Herc1	T	A	9: 66,473,500	M3553K	probably benign	Het
Hspa12a	T	C	19: 58,825,288	Y135C	probably damaging	Het
Hspa1l	A	G	17: 34,977,873	Y296C	probably benign	Het
Ifna12	T	G	4: 88,602,842	E156A	possibly damaging	Het
Ilf3	C	T	9: 21,403,138	Q689*	probably null	Het
Ints1	A	G	5: 139,774,286		probably null	Het
Itga8	T	A	2: 12,230,208	D413V	possibly damaging	Het
Kcnd3	C	T	3: 105,666,974	L492F	possibly damaging	Het
Kcnh5	T	C	12: 74,898,000	K825R	probably benign	Het
Kcnma1	A	G	14: 23,650,146	I194T	possibly damaging	Het
Kmo	A	G	1: 175,637,542	R30G	probably damaging	Het
Krtap19-4	C	A	16: 88,884,913	G52C	unknown	Het
Ksr1	A	G	11: 79,027,639	V563A	possibly damaging	Het
Lyn	A	T	4: 3,780,925	M355L	possibly damaging	Het
Med13	A	T	11: 86,298,834	L1083*	probably null	Het
Mfsd13a	A	G	19: 46,366,461	T26A	probably benign	Het
Mup14	T	C	4: 61,303,431	I41V	probably benign	Het
Myo9b	T	A	8: 71,352,262	S1466T	probably benign	Het
Nampt	T	C	12: 32,838,459		probably null	Het
Nbeal1	T	C	1: 60,278,726	Y1941H	probably damaging	Het
Nyap2	C	T	1: 81,336,599	A670V	probably benign	Het
Olfr1294	T	C	2: 111,538,143	I49V	probably benign	Het
Olfr171	A	G	16: 19,625,041	S20P	probably benign	Het
Olfr63	A	G	17: 33,268,820	Y32C	probably damaging	Het
Olfr734	T	C	14: 50,320,542	I98V	probably damaging	Het
Olfr949-ps1	T	C	9: 39,365,120	V187A	unknown	Het
Pcdh15	A	G	10: 74,385,899	D677G	probably damaging	Het
Pogz	T	A	3: 94,880,219	S1373T	probably benign	Het
Ptprj	T	C	2: 90,458,269	D691G	probably benign	Het
Qpctl	T	A	7: 19,147,036	D157V	probably damaging	Het
Rbbp8	T	C	18: 11,677,620	F60L	possibly damaging	Het
Ripor1	T	A	8: 105,617,440	L402Q	possibly damaging	Het
Rptn	C	T	3: 93,397,105	H582Y	probably benign	Het
Rusc1	T	A	3: 89,089,683	Q611L	probably damaging	Het
Ryr2	A	G	13: 11,595,931	V4003A	possibly damaging	Het
Siglech	T	A	7: 55,772,546	W300R	probably benign	Het
Slc25a51	T	C	4: 45,399,494	D232G	probably damaging	Het
Slc6a11	T	A	6: 114,243,944	C479S	probably benign	Het
Sspo	G	T	6: 48,473,674	G2599V	probably damaging	Het
Tfpt	T	A	7: 3,624,605	E116V	probably null	Het
Tmem260	T	A	14: 48,480,317	V121E	probably benign	Het
Tmem54	T	C	4: 129,108,327	F45L	probably benign	Het
Trim2	T	A	3: 84,172,821	N631I	probably damaging	Het
Tshr	C	T	12: 91,507,789	T179I	probably damaging	Het
Vmn1r40	A	G	6: 89,714,216	N5S	probably benign	Het
Vmn2r68	A	G	7: 85,222,212	V621A	possibly damaging	Het
Zc2hc1c	TTTATCC	T	12: 85,296,456		probably benign	Het
Zfp644	G	A	5: 106,636,078	Q837*	probably null	Het
Zfp773	A	T	7: 7,132,990	N202K	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
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
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'- GGTCAAGGAACCCCTAGTAAGC -3'
(R):5'- CATGTGTCAAGCCCAAAAGC -3'

Sequencing Primer
(F):5'- AGAGGATCCTCCATCTTCTGAAGG -3'
(R):5'- TGTCAAGCCCAAAAGCCATTCTTG -3'

Posted On

2021-11-19