Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Atp13a4'

375966

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

4631413J11Rik, 9330174J19Rik

MMRRC Submission

042502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29214671-29363682 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 29227779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1045 (L1045*)

Ref Sequence

ENSEMBL: ENSMUSP00000138479 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000057018
AA Change: L1026*

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: L1026*

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

noncoding transcript
Transcript: ENSMUST00000182094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182357

Predicted Effect

probably benign
Transcript: ENSMUST00000182573

Predicted Effect

probably null
Transcript: ENSMUST00000182627
AA Change: L1045*

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: L1045*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182676

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,639,111 (GRCm39)	Y944C	probably damaging	Het
Acacb	T	C	5: 114,370,999 (GRCm39)	V1747A	probably benign	Het
Acad8	C	T	9: 26,889,698 (GRCm39)	R332H	probably damaging	Het
Acrbp	A	C	6: 125,027,501 (GRCm39)	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,583,077 (GRCm39)	N1500K	probably benign	Het
Aoc1l3	A	G	6: 48,964,651 (GRCm39)	T220A	possibly damaging	Het
Arfgef1	A	G	1: 10,229,798 (GRCm39)	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,842,171 (GRCm39)	S478G	probably benign	Het
Armh1	T	C	4: 117,094,977 (GRCm39)	D21G	probably damaging	Het
Atp2a3	T	A	11: 72,873,506 (GRCm39)	L793H	probably damaging	Het
B4galnt4	C	A	7: 140,648,173 (GRCm39)	P563Q	probably benign	Het
Bcl2a1b	A	T	9: 89,081,713 (GRCm39)	K94*	probably null	Het
Bod1	T	A	11: 31,616,853 (GRCm39)	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,055,166 (GRCm39)	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588 (GRCm38)	V1250A	possibly damaging	Het
Car12	T	A	9: 66,671,600 (GRCm39)	Y332*	probably null	Het
Ccdc186	A	T	19: 56,790,432 (GRCm39)		probably null	Het
Cdh6	T	C	15: 13,034,774 (GRCm39)	T629A	probably damaging	Het
Cep112	T	A	11: 108,397,471 (GRCm39)	D353E	probably damaging	Het
Cep152	T	C	2: 125,428,301 (GRCm39)	S777G	probably benign	Het
Clec4b2	A	C	6: 123,181,163 (GRCm39)	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926 (GRCm39)	Y323H	probably benign	Het
Cnp	G	T	11: 100,467,202 (GRCm39)	E48D	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,275,224 (GRCm39)	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,772,285 (GRCm39)	E703D	probably damaging	Het
Dlg1	T	C	16: 31,676,764 (GRCm39)	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,651,276 (GRCm39)	S86G	probably benign	Het
Dock3	C	A	9: 106,870,171 (GRCm39)	V638F	possibly damaging	Het
Dock3	A	G	9: 106,807,266 (GRCm39)	F1354L	probably damaging	Het
Eif3c	A	T	7: 126,156,626 (GRCm39)	M407K	probably benign	Het
Eif4a3l1	A	T	6: 136,305,737 (GRCm39)	Q66L	possibly damaging	Het
Epha4	T	A	1: 77,366,712 (GRCm39)	K578*	probably null	Het
Erc2	C	T	14: 27,375,285 (GRCm39)	L168F	probably damaging	Het
Esyt2	A	G	12: 116,305,708 (GRCm39)	I313V	probably benign	Het
Far1	T	A	7: 113,167,432 (GRCm39)	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,547,037 (GRCm39)	N463Y	possibly damaging	Het
Fgg	A	G	3: 82,915,847 (GRCm39)	D96G	probably benign	Het
Gfer	A	G	17: 24,914,274 (GRCm39)	S130P	probably damaging	Het
Hdac10	A	T	15: 89,012,650 (GRCm39)	M1K	probably null	Het
Hsd3b1	A	T	3: 98,760,642 (GRCm39)	S110R	probably benign	Het
Ints15	A	G	5: 143,287,592 (GRCm39)	S438P	probably benign	Het
Itga6	T	C	2: 71,668,717 (GRCm39)	L552P	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,147,214 (GRCm39)	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,628,080 (GRCm39)	Y142F	probably benign	Het
Lyz2	T	A	10: 117,114,614 (GRCm39)	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Map7d1	T	C	4: 126,127,018 (GRCm39)	K731E	unknown	Het
Mgam	A	C	6: 40,619,988 (GRCm39)	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953 (GRCm39)	E104D	probably benign	Het
Morc2a	C	T	11: 3,626,664 (GRCm39)	R241*	probably null	Het
Mtfmt	C	A	9: 65,359,386 (GRCm39)	H354N	probably benign	Het
Myh3	T	C	11: 66,990,233 (GRCm39)	I1626T	probably benign	Het
Ndst1	A	T	18: 60,825,059 (GRCm39)	V753D	probably benign	Het
Neurl4	A	G	11: 69,793,997 (GRCm39)	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,168,194 (GRCm39)	S568G	probably benign	Het
Or10g3b	G	C	14: 52,586,999 (GRCm39)	P168R	probably damaging	Het
Or2t45	T	C	11: 58,669,132 (GRCm39)	Y60H	possibly damaging	Het
Or2t46	T	G	11: 58,472,546 (GRCm39)	L292R	probably damaging	Het
Or4c52	T	C	2: 89,845,762 (GRCm39)	F163L	probably damaging	Het
Or52s1	A	G	7: 102,861,747 (GRCm39)	I216V	probably damaging	Het
Or6c66	A	T	10: 129,461,468 (GRCm39)	I154N	probably benign	Het
Or8b42	A	T	9: 38,342,111 (GRCm39)	M178L	probably benign	Het
Osbpl7	A	G	11: 96,950,976 (GRCm39)	I608V	probably damaging	Het
Pard3b	T	C	1: 61,807,159 (GRCm39)	I58T	probably damaging	Het
Pcare	A	G	17: 72,058,066 (GRCm39)	M537T	probably damaging	Het
Pcdhga1	A	C	18: 37,795,407 (GRCm39)	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,139,072 (GRCm39)	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,230,786 (GRCm39)	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,514,042 (GRCm39)	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,610,899 (GRCm39)	Y183C	probably damaging	Het
Pole	A	C	5: 110,438,090 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,045,313 (GRCm39)	L948P	probably damaging	Het
Prdm2	A	T	4: 142,860,761 (GRCm39)	V843E	probably damaging	Het
Prss56	C	A	1: 87,115,708 (GRCm39)	F527L	probably damaging	Het
Psmd11	T	C	11: 80,329,146 (GRCm39)	L88P	probably damaging	Het
Ptx3	G	C	3: 66,132,412 (GRCm39)	G311A	probably damaging	Het
Rars1	A	T	11: 35,699,385 (GRCm39)	L636H	probably damaging	Het
Rnft2	A	G	5: 118,375,507 (GRCm39)	S81P	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxra	T	A	2: 27,631,195 (GRCm39)	I142N	probably damaging	Het
Scin	T	C	12: 40,154,931 (GRCm39)	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,584,069 (GRCm39)	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,157,783 (GRCm39)	I505F	probably benign	Het
Six5	T	C	7: 18,829,096 (GRCm39)	Y179H	probably damaging	Het
Slc12a4	A	C	8: 106,671,241 (GRCm39)	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,765,237 (GRCm39)	L404F	probably damaging	Het
Smn1	T	C	13: 100,268,931 (GRCm39)	L259P	probably damaging	Het
Sorl1	T	G	9: 41,952,935 (GRCm39)	D702A	probably damaging	Het
Spta1	A	G	1: 174,065,400 (GRCm39)	E1983G	possibly damaging	Het
Srsf1	T	A	11: 87,940,788 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,536,900 (GRCm39)	R4224*	probably null	Het
Sybu	T	G	15: 44,538,895 (GRCm39)	M383L	probably benign	Het
Tbx15	A	C	3: 99,259,583 (GRCm39)	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 137,819,786 (GRCm39)	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616 (GRCm39)	T474N	possibly damaging	Het
Thada	A	T	17: 84,755,470 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,704,235 (GRCm39)	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,914,566 (GRCm39)	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,158,845 (GRCm39)	M623T	probably damaging	Het
Trdn	T	A	10: 33,350,413 (GRCm39)	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,612,056 (GRCm39)	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,707,026 (GRCm39)	R644S	probably benign	Het
Ttyh1	A	T	7: 4,136,735 (GRCm39)	M448L	probably benign	Het
Unc79	G	T	12: 103,128,079 (GRCm39)	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,358,805 (GRCm39)	I2110M	probably benign	Het
Uvssa	G	T	5: 33,571,257 (GRCm39)	E634*	probably null	Het
Vac14	A	C	8: 111,372,440 (GRCm39)	T384P	probably benign	Het
Wdr11	A	G	7: 129,235,445 (GRCm39)	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,157,298 (GRCm39)	T28S	probably benign	Het
Zfp715	A	T	7: 42,949,106 (GRCm39)	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,747,424 (GRCm39)	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,396,085 (GRCm39)	V544M	probably damaging	Het

Other mutations in Atp13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Atp13a4	APN	16	29,222,596 (GRCm39)	splice site	probably benign
IGL01577:Atp13a4	APN	16	29,260,102 (GRCm39)	missense	possibly damaging	0.77
IGL01834:Atp13a4	APN	16	29,234,595 (GRCm39)	splice site	probably benign
IGL02165:Atp13a4	APN	16	29,252,828 (GRCm39)	missense	probably damaging	1.00
IGL02194:Atp13a4	APN	16	29,275,447 (GRCm39)	missense	probably damaging	1.00
IGL02322:Atp13a4	APN	16	29,258,920 (GRCm39)	missense	probably benign	0.00
IGL02553:Atp13a4	APN	16	29,241,521 (GRCm39)	missense	probably benign	0.03
IGL02821:Atp13a4	APN	16	29,260,125 (GRCm39)	missense	probably benign	0.01
IGL03349:Atp13a4	APN	16	29,275,489 (GRCm39)	missense	probably benign	0.01
G5030:Atp13a4	UTSW	16	29,274,306 (GRCm39)	missense	probably damaging	1.00
R0091:Atp13a4	UTSW	16	29,274,213 (GRCm39)	missense	probably damaging	1.00
R0100:Atp13a4	UTSW	16	29,240,542 (GRCm39)	missense	probably damaging	1.00
R0278:Atp13a4	UTSW	16	29,273,652 (GRCm39)	missense	probably damaging	1.00
R1263:Atp13a4	UTSW	16	29,290,771 (GRCm39)	missense	possibly damaging	0.60
R1378:Atp13a4	UTSW	16	29,239,246 (GRCm39)	missense	probably damaging	1.00
R1575:Atp13a4	UTSW	16	29,228,528 (GRCm39)	missense	probably benign	0.01
R1720:Atp13a4	UTSW	16	29,227,746 (GRCm39)	missense	probably damaging	0.99
R1759:Atp13a4	UTSW	16	29,275,429 (GRCm39)	missense	probably damaging	0.99
R1967:Atp13a4	UTSW	16	29,298,672 (GRCm39)	missense	probably damaging	0.99
R2030:Atp13a4	UTSW	16	29,241,502 (GRCm39)	missense	probably damaging	1.00
R2113:Atp13a4	UTSW	16	29,260,102 (GRCm39)	missense	possibly damaging	0.77
R3409:Atp13a4	UTSW	16	29,232,567 (GRCm39)	missense	probably damaging	1.00
R3410:Atp13a4	UTSW	16	29,232,567 (GRCm39)	missense	probably damaging	1.00
R4032:Atp13a4	UTSW	16	29,237,389 (GRCm39)	missense	probably damaging	1.00
R4163:Atp13a4	UTSW	16	29,360,068 (GRCm39)	missense	possibly damaging	0.87
R4652:Atp13a4	UTSW	16	29,271,421 (GRCm39)	missense	probably damaging	1.00
R4772:Atp13a4	UTSW	16	29,239,653 (GRCm39)	intron	probably benign
R4795:Atp13a4	UTSW	16	29,308,826 (GRCm39)	critical splice donor site	probably null
R4996:Atp13a4	UTSW	16	29,290,822 (GRCm39)	missense	probably damaging	1.00
R5112:Atp13a4	UTSW	16	29,228,686 (GRCm39)	missense	possibly damaging	0.87
R5259:Atp13a4	UTSW	16	29,275,428 (GRCm39)	missense	probably damaging	1.00
R5395:Atp13a4	UTSW	16	29,275,422 (GRCm39)	missense	possibly damaging	0.94
R5395:Atp13a4	UTSW	16	29,239,706 (GRCm39)	nonsense	probably null
R5640:Atp13a4	UTSW	16	29,234,649 (GRCm39)	missense	probably damaging	0.98
R5809:Atp13a4	UTSW	16	29,252,805 (GRCm39)	missense	possibly damaging	0.56
R5856:Atp13a4	UTSW	16	29,252,805 (GRCm39)	missense	possibly damaging	0.94
R5912:Atp13a4	UTSW	16	29,275,389 (GRCm39)	missense	probably benign	0.33
R6282:Atp13a4	UTSW	16	29,252,822 (GRCm39)	missense	probably benign	0.00
R6404:Atp13a4	UTSW	16	29,290,719 (GRCm39)	nonsense	probably null
R6497:Atp13a4	UTSW	16	29,298,719 (GRCm39)	missense	probably damaging	1.00
R6577:Atp13a4	UTSW	16	29,298,659 (GRCm39)	missense	probably benign	0.03
R6806:Atp13a4	UTSW	16	29,288,098 (GRCm39)	missense	probably damaging	1.00
R7229:Atp13a4	UTSW	16	29,239,723 (GRCm39)	missense	probably benign	0.05
R7438:Atp13a4	UTSW	16	29,260,014 (GRCm39)	missense
R7493:Atp13a4	UTSW	16	29,290,774 (GRCm39)	missense
R7712:Atp13a4	UTSW	16	29,278,305 (GRCm39)	missense
R7739:Atp13a4	UTSW	16	29,275,419 (GRCm39)	missense
R7897:Atp13a4	UTSW	16	29,215,284 (GRCm39)	missense
R7950:Atp13a4	UTSW	16	29,268,735 (GRCm39)	missense
R8217:Atp13a4	UTSW	16	29,222,619 (GRCm39)	missense
R8227:Atp13a4	UTSW	16	29,222,663 (GRCm39)	missense
R8273:Atp13a4	UTSW	16	29,290,720 (GRCm39)	missense
R8488:Atp13a4	UTSW	16	29,236,654 (GRCm39)	missense	possibly damaging	0.63
R8508:Atp13a4	UTSW	16	29,273,587 (GRCm39)	nonsense	probably null
R8773:Atp13a4	UTSW	16	29,260,398 (GRCm39)	missense
R8921:Atp13a4	UTSW	16	29,273,592 (GRCm39)	missense
R8940:Atp13a4	UTSW	16	29,273,508 (GRCm39)	critical splice donor site	probably null
R9056:Atp13a4	UTSW	16	29,290,706 (GRCm39)	critical splice donor site	probably null
R9272:Atp13a4	UTSW	16	29,268,797 (GRCm39)	missense
R9292:Atp13a4	UTSW	16	29,241,500 (GRCm39)	missense
R9415:Atp13a4	UTSW	16	29,227,821 (GRCm39)	missense
R9453:Atp13a4	UTSW	16	29,239,659 (GRCm39)	missense	unknown
R9497:Atp13a4	UTSW	16	29,288,130 (GRCm39)	critical splice acceptor site	probably null
R9541:Atp13a4	UTSW	16	29,241,544 (GRCm39)	missense
R9614:Atp13a4	UTSW	16	29,260,398 (GRCm39)	missense
R9622:Atp13a4	UTSW	16	29,239,277 (GRCm39)	missense
R9727:Atp13a4	UTSW	16	29,228,589 (GRCm39)	missense
Z1176:Atp13a4	UTSW	16	29,241,405 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAGTGGAAGTGAAGGATCTC -3'
(R):5'- CCGCAGATGGAAATGTGTTC -3'

Sequencing Primer
(F):5'- CTCTAGCTGAGACTGTGCTG -3'
(R):5'- GATGGAAATGTGTTCTGAGAACTCC -3'

Posted On

2016-03-17