Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Atp13a4'

375966

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

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

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 29408961 bp (GRCm38)

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: 45,989,687 (GRCm38)	Y944C	probably damaging	Het
Acacb	T	C	5: 114,232,938 (GRCm38)	V1747A	probably benign	Het
Acad8	C	T	9: 26,978,402 (GRCm38)	R332H	probably damaging	Het
Acrbp	A	C	6: 125,050,538 (GRCm38)	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,755,512 (GRCm38)	N1500K	probably benign	Het
Arfgef1	A	G	1: 10,159,573 (GRCm38)	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,951,345 (GRCm38)	S478G	probably benign	Het
Armh1	T	C	4: 117,237,780 (GRCm38)	D21G	probably damaging	Het
Atp2a3	T	A	11: 72,982,680 (GRCm38)	L793H	probably damaging	Het
B4galnt4	C	A	7: 141,068,260 (GRCm38)	P563Q	probably benign	Het
BC027072	A	G	17: 71,751,071 (GRCm38)	M537T	probably damaging	Het
Bcl2a1b	A	T	9: 89,199,660 (GRCm38)	K94*	probably null	Het
Bod1	T	A	11: 31,666,853 (GRCm38)	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,405,959 (GRCm38)	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588 (GRCm38)	V1250A	possibly damaging	Het
Car12	T	A	9: 66,764,318 (GRCm38)	Y332*	probably null	Het
Ccdc186	A	T	19: 56,802,000 (GRCm38)		probably null	Het
Cdh6	T	C	15: 13,034,688 (GRCm38)	T629A	probably damaging	Het
Cep112	T	A	11: 108,506,645 (GRCm38)	D353E	probably damaging	Het
Cep152	T	C	2: 125,586,381 (GRCm38)	S777G	probably benign	Het
Clec4b2	A	C	6: 123,204,204 (GRCm38)	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926 (GRCm38)	Y323H	probably benign	Het
Cnp	G	T	11: 100,576,376 (GRCm38)	E48D	probably benign	Het
Ctrb1	T	A	8: 111,687,151 (GRCm38)	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,391,023 (GRCm38)	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,614,941 (GRCm38)	E703D	probably damaging	Het
Dlg1	T	C	16: 31,857,946 (GRCm38)	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,413,819 (GRCm38)	S86G	probably benign	Het
Dock3	C	A	9: 106,992,972 (GRCm38)	V638F	possibly damaging	Het
Dock3	A	G	9: 106,930,067 (GRCm38)	F1354L	probably damaging	Het
E130309D02Rik	A	G	5: 143,301,837 (GRCm38)	S438P	probably benign	Het
Eif3c	A	T	7: 126,557,454 (GRCm38)	M407K	probably benign	Het
Epha4	T	A	1: 77,390,075 (GRCm38)	K578*	probably null	Het
Erc2	C	T	14: 27,653,328 (GRCm38)	L168F	probably damaging	Het
Esyt2	A	G	12: 116,342,088 (GRCm38)	I313V	probably benign	Het
Far1	T	A	7: 113,568,225 (GRCm38)	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,717,969 (GRCm38)	N463Y	possibly damaging	Het
Fgg	A	G	3: 83,008,540 (GRCm38)	D96G	probably benign	Het
Gfer	A	G	17: 24,695,300 (GRCm38)	S130P	probably damaging	Het
Gm8994	A	T	6: 136,328,739 (GRCm38)	Q66L	possibly damaging	Het
Hdac10	A	T	15: 89,128,447 (GRCm38)	M1K	probably null	Het
Hsd3b1	A	T	3: 98,853,326 (GRCm38)	S110R	probably benign	Het
Itga6	T	C	2: 71,838,373 (GRCm38)	L552P	possibly damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643 (GRCm38)		probably null	Het
Llgl1	C	T	11: 60,709,568 (GRCm38)	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,257,202 (GRCm38)	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,480,214 (GRCm38)	Y142F	probably benign	Het
Lyz2	T	A	10: 117,278,709 (GRCm38)	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,570,023 (GRCm38)	D76G	probably damaging	Het
Map7d1	T	C	4: 126,233,225 (GRCm38)	K731E	unknown	Het
Mgam	A	C	6: 40,643,054 (GRCm38)	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953 (GRCm38)	E104D	probably benign	Het
Morc2a	C	T	11: 3,676,664 (GRCm38)	R241*	probably null	Het
Mtfmt	C	A	9: 65,452,104 (GRCm38)	H354N	probably benign	Het
Myh3	T	C	11: 67,099,407 (GRCm38)	I1626T	probably benign	Het
Ndst1	A	T	18: 60,691,987 (GRCm38)	V753D	probably benign	Het
Neurl4	A	G	11: 69,903,171 (GRCm38)	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,256,897 (GRCm38)	S568G	probably benign	Het
Olfr1263	T	C	2: 90,015,418 (GRCm38)	F163L	probably damaging	Het
Olfr1513	G	C	14: 52,349,542 (GRCm38)	P168R	probably damaging	Het
Olfr315	T	C	11: 58,778,306 (GRCm38)	Y60H	possibly damaging	Het
Olfr325	T	G	11: 58,581,720 (GRCm38)	L292R	probably damaging	Het
Olfr593	A	G	7: 103,212,540 (GRCm38)	I216V	probably damaging	Het
Olfr798	A	T	10: 129,625,599 (GRCm38)	I154N	probably benign	Het
Olfr901	A	T	9: 38,430,815 (GRCm38)	M178L	probably benign	Het
Osbpl7	A	G	11: 97,060,150 (GRCm38)	I608V	probably damaging	Het
Pard3b	T	C	1: 61,768,000 (GRCm38)	I58T	probably damaging	Het
Pcdhga1	A	C	18: 37,662,354 (GRCm38)	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,150,624 (GRCm38)	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,410,416 (GRCm38)	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,464,042 (GRCm38)	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,564,125 (GRCm38)	Y183C	probably damaging	Het
Pole	A	C	5: 110,290,224 (GRCm38)		probably null	Het
Ppfia1	A	G	7: 144,491,576 (GRCm38)	L948P	probably damaging	Het
Prdm2	A	T	4: 143,134,191 (GRCm38)	V843E	probably damaging	Het
Prss56	C	A	1: 87,187,986 (GRCm38)	F527L	probably damaging	Het
Psmd11	T	C	11: 80,438,320 (GRCm38)	L88P	probably damaging	Het
Ptx3	G	C	3: 66,224,991 (GRCm38)	G311A	probably damaging	Het
Rars	A	T	11: 35,808,558 (GRCm38)	L636H	probably damaging	Het
Rnft2	A	G	5: 118,237,442 (GRCm38)	S81P	probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Rxra	T	A	2: 27,741,183 (GRCm38)	I142N	probably damaging	Het
Scin	T	C	12: 40,104,932 (GRCm38)	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,579,258 (GRCm38)	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,322,004 (GRCm38)	I505F	probably benign	Het
Six5	T	C	7: 19,095,171 (GRCm38)	Y179H	probably damaging	Het
Slc12a4	A	C	8: 105,944,609 (GRCm38)	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,837,512 (GRCm38)	L404F	probably damaging	Het
Smn1	T	C	13: 100,132,423 (GRCm38)	L259P	probably damaging	Het
Sorl1	T	G	9: 42,041,639 (GRCm38)	D702A	probably damaging	Het
Spta1	A	G	1: 174,237,834 (GRCm38)	E1983G	possibly damaging	Het
Srsf1	T	A	11: 88,049,962 (GRCm38)		probably null	Het
Stard9	C	T	2: 120,706,419 (GRCm38)	R4224*	probably null	Het
Svs1	A	G	6: 48,987,717 (GRCm38)	T220A	possibly damaging	Het
Sybu	T	G	15: 44,675,499 (GRCm38)	M383L	probably benign	Het
Tbx15	A	C	3: 99,352,267 (GRCm38)	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 138,218,057 (GRCm38)	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616 (GRCm38)	T474N	possibly damaging	Het
Thada	A	T	17: 84,448,042 (GRCm38)		probably null	Het
Tnik	A	T	3: 28,650,086 (GRCm38)	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,695,592 (GRCm38)	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,268,833 (GRCm38)	M623T	probably damaging	Het
Trdn	T	A	10: 33,474,417 (GRCm38)	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,776,192 (GRCm38)	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,660,240 (GRCm38)	R644S	probably benign	Het
Ttyh1	A	T	7: 4,133,736 (GRCm38)	M448L	probably benign	Het
Unc79	G	T	12: 103,161,820 (GRCm38)	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,626,608 (GRCm38)	I2110M	probably benign	Het
Uvssa	G	T	5: 33,413,913 (GRCm38)	E634*	probably null	Het
Vac14	A	C	8: 110,645,808 (GRCm38)	T384P	probably benign	Het
Wdr11	A	G	7: 129,633,721 (GRCm38)	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,110,524 (GRCm38)	T28S	probably benign	Het
Zfp715	A	T	7: 43,299,682 (GRCm38)	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,770,060 (GRCm38)	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,602,436 (GRCm38)	V544M	probably damaging	Het

Other mutations in Atp13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Atp13a4	APN	16	29,403,778 (GRCm38)	splice site	probably benign
IGL01577:Atp13a4	APN	16	29,441,284 (GRCm38)	missense	possibly damaging	0.77
IGL01834:Atp13a4	APN	16	29,415,777 (GRCm38)	splice site	probably benign
IGL02165:Atp13a4	APN	16	29,434,010 (GRCm38)	missense	probably damaging	1.00
IGL02194:Atp13a4	APN	16	29,456,629 (GRCm38)	missense	probably damaging	1.00
IGL02322:Atp13a4	APN	16	29,440,102 (GRCm38)	missense	probably benign	0.00
IGL02553:Atp13a4	APN	16	29,422,703 (GRCm38)	missense	probably benign	0.03
IGL02821:Atp13a4	APN	16	29,441,307 (GRCm38)	missense	probably benign	0.01
IGL03349:Atp13a4	APN	16	29,456,671 (GRCm38)	missense	probably benign	0.01
G5030:Atp13a4	UTSW	16	29,455,488 (GRCm38)	missense	probably damaging	1.00
R0091:Atp13a4	UTSW	16	29,455,395 (GRCm38)	missense	probably damaging	1.00
R0100:Atp13a4	UTSW	16	29,421,724 (GRCm38)	missense	probably damaging	1.00
R0278:Atp13a4	UTSW	16	29,454,834 (GRCm38)	missense	probably damaging	1.00
R1263:Atp13a4	UTSW	16	29,471,953 (GRCm38)	missense	possibly damaging	0.60
R1378:Atp13a4	UTSW	16	29,420,428 (GRCm38)	missense	probably damaging	1.00
R1575:Atp13a4	UTSW	16	29,409,710 (GRCm38)	missense	probably benign	0.01
R1720:Atp13a4	UTSW	16	29,408,928 (GRCm38)	missense	probably damaging	0.99
R1759:Atp13a4	UTSW	16	29,456,611 (GRCm38)	missense	probably damaging	0.99
R1967:Atp13a4	UTSW	16	29,479,854 (GRCm38)	missense	probably damaging	0.99
R2030:Atp13a4	UTSW	16	29,422,684 (GRCm38)	missense	probably damaging	1.00
R2113:Atp13a4	UTSW	16	29,441,284 (GRCm38)	missense	possibly damaging	0.77
R3409:Atp13a4	UTSW	16	29,413,749 (GRCm38)	missense	probably damaging	1.00
R3410:Atp13a4	UTSW	16	29,413,749 (GRCm38)	missense	probably damaging	1.00
R4032:Atp13a4	UTSW	16	29,418,571 (GRCm38)	missense	probably damaging	1.00
R4163:Atp13a4	UTSW	16	29,541,250 (GRCm38)	missense	possibly damaging	0.87
R4652:Atp13a4	UTSW	16	29,452,603 (GRCm38)	missense	probably damaging	1.00
R4772:Atp13a4	UTSW	16	29,420,835 (GRCm38)	intron	probably benign
R4795:Atp13a4	UTSW	16	29,490,008 (GRCm38)	critical splice donor site	probably null
R4996:Atp13a4	UTSW	16	29,472,004 (GRCm38)	missense	probably damaging	1.00
R5112:Atp13a4	UTSW	16	29,409,868 (GRCm38)	missense	possibly damaging	0.87
R5259:Atp13a4	UTSW	16	29,456,610 (GRCm38)	missense	probably damaging	1.00
R5395:Atp13a4	UTSW	16	29,456,604 (GRCm38)	missense	possibly damaging	0.94
R5395:Atp13a4	UTSW	16	29,420,888 (GRCm38)	nonsense	probably null
R5640:Atp13a4	UTSW	16	29,415,831 (GRCm38)	missense	probably damaging	0.98
R5809:Atp13a4	UTSW	16	29,433,987 (GRCm38)	missense	possibly damaging	0.56
R5856:Atp13a4	UTSW	16	29,433,987 (GRCm38)	missense	possibly damaging	0.94
R5912:Atp13a4	UTSW	16	29,456,571 (GRCm38)	missense	probably benign	0.33
R6282:Atp13a4	UTSW	16	29,434,004 (GRCm38)	missense	probably benign	0.00
R6404:Atp13a4	UTSW	16	29,471,901 (GRCm38)	nonsense	probably null
R6497:Atp13a4	UTSW	16	29,479,901 (GRCm38)	missense	probably damaging	1.00
R6577:Atp13a4	UTSW	16	29,479,841 (GRCm38)	missense	probably benign	0.03
R6806:Atp13a4	UTSW	16	29,469,280 (GRCm38)	missense	probably damaging	1.00
R7229:Atp13a4	UTSW	16	29,420,905 (GRCm38)	missense	probably benign	0.05
R7438:Atp13a4	UTSW	16	29,441,196 (GRCm38)	missense
R7493:Atp13a4	UTSW	16	29,471,956 (GRCm38)	missense
R7712:Atp13a4	UTSW	16	29,459,487 (GRCm38)	missense
R7739:Atp13a4	UTSW	16	29,456,601 (GRCm38)	missense
R7897:Atp13a4	UTSW	16	29,396,466 (GRCm38)	missense
R7950:Atp13a4	UTSW	16	29,449,917 (GRCm38)	missense
R8217:Atp13a4	UTSW	16	29,403,801 (GRCm38)	missense
R8227:Atp13a4	UTSW	16	29,403,845 (GRCm38)	missense
R8273:Atp13a4	UTSW	16	29,471,902 (GRCm38)	missense
R8488:Atp13a4	UTSW	16	29,417,836 (GRCm38)	missense	possibly damaging	0.63
R8508:Atp13a4	UTSW	16	29,454,769 (GRCm38)	nonsense	probably null
R8773:Atp13a4	UTSW	16	29,441,580 (GRCm38)	missense
R8921:Atp13a4	UTSW	16	29,454,774 (GRCm38)	missense
R8940:Atp13a4	UTSW	16	29,454,690 (GRCm38)	critical splice donor site	probably null
R9056:Atp13a4	UTSW	16	29,471,888 (GRCm38)	critical splice donor site	probably null
R9272:Atp13a4	UTSW	16	29,449,979 (GRCm38)	missense
R9292:Atp13a4	UTSW	16	29,422,682 (GRCm38)	missense
R9415:Atp13a4	UTSW	16	29,409,003 (GRCm38)	missense
R9453:Atp13a4	UTSW	16	29,420,841 (GRCm38)	missense	unknown
R9497:Atp13a4	UTSW	16	29,469,312 (GRCm38)	critical splice acceptor site	probably null
R9541:Atp13a4	UTSW	16	29,422,726 (GRCm38)	missense
R9614:Atp13a4	UTSW	16	29,441,580 (GRCm38)	missense
R9622:Atp13a4	UTSW	16	29,420,459 (GRCm38)	missense
R9727:Atp13a4	UTSW	16	29,409,771 (GRCm38)	missense
Z1176:Atp13a4	UTSW	16	29,422,587 (GRCm38)	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