Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Atp13a4'

655725

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001164612, NM_172613, NM_001164613

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29454769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 444 (K444*)

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 null
Transcript: ENSMUST00000039090
AA Change: K463*

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: K463*

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
AA Change: K444*

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: K444*

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 null
Transcript: ENSMUST00000182573
AA Change: K101*

Predicted Effect

probably null
Transcript: ENSMUST00000182627
AA Change: K463*

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: K463*

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	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
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
Z1176:Atp13a4	UTSW	16	29422587	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGATGCCTGTAACCTGCC -3'
(R):5'- TTGTAGCTATCAGACGAAGATCTCC -3'

Sequencing Primer
(F):5'- AGATGCCTGTAACCTGCCTATTAC -3'
(R):5'- TCTCCAAATGAAACGAGGTAGC -3'

Posted On

2020-10-20