Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Atp13a4'

351433

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

4631413J11Rik, 9330174J19Rik

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29214671-29363682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29271421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 498 (D498E)

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 damaging
Transcript: ENSMUST00000039090
AA Change: D498E

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

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: D498E

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

unknown
Transcript: ENSMUST00000057018
AA Change: D479E

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: D479E

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

unknown
Transcript: ENSMUST00000182573
AA Change: D136E

Predicted Effect

probably damaging
Transcript: ENSMUST00000182627
AA Change: D498E

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

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: D498E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,607,566 (GRCm39)		probably benign	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dlgap1	T	A	17: 71,068,090 (GRCm39)	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	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
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
R4898:Atp13a4	UTSW	16	29,227,779 (GRCm39)	nonsense	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'- CATGTTCAGAGAGACCTGGG -3'
(R):5'- CTCTCTTAGAACATGTATGCCCAC -3'

Sequencing Primer
(F):5'- CATGTTCAGAGAGACCTGGGAAATTC -3'
(R):5'- GAACATGTATGCCCACTTTATTGTG -3'

Posted On

2015-10-08