Mutagenetix > Incidental Mutation

Incidental Mutation 'R8227:Atp13a4'

637033

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

067644-MU

Accession Numbers

Genbank: NM_001164612, NM_172613, NM_001164613

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8227 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29403845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1087 (V1087A)

Ref Sequence

ENSEMBL: ENSMUSP00000060987 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: V1087A

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: ENSMUST00000182573

Predicted Effect

probably benign
Transcript: ENSMUST00000182627
AA Change: V1106A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: V1106A

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	C	A	7: 28,616,648 (GRCm38)	S171I	probably damaging	Het
Arhgap24	A	G	5: 102,875,781 (GRCm38)	E227G	probably benign	Het
Csnk1g2	G	A	10: 80,638,629 (GRCm38)		probably null	Het
Dlc1	A	G	8: 36,572,671 (GRCm38)	L994S	probably damaging	Het
Dusp13	A	G	14: 21,742,801 (GRCm38)	S19P	probably benign	Het
Foxr1	T	C	9: 44,436,007 (GRCm38)	S78G	probably benign	Het
Gm1968	T	A	16: 29,958,562 (GRCm38)	K93N	noncoding transcript	Het
Gm4781	G	A	10: 100,396,562 (GRCm38)	P171S	noncoding transcript	Het
Gm7276	T	A	18: 77,185,462 (GRCm38)	Q192L	unknown	Het
Greb1l	T	A	18: 10,515,371 (GRCm38)	L721H	probably damaging	Het
Grm3	T	C	5: 9,570,242 (GRCm38)	D334G	possibly damaging	Het
Lama3	C	T	18: 12,407,551 (GRCm38)	A304V	probably benign	Het
Lamc1	G	A	1: 153,223,754 (GRCm38)	S1491L	probably benign	Het
Lepr	T	C	4: 101,771,362 (GRCm38)	S555P	probably damaging	Het
Mup14	C	T	4: 61,302,495 (GRCm38)	E97K	probably benign	Het
Pdss2	A	T	10: 43,345,581 (GRCm38)	H163L	probably damaging	Het
Rps16	T	A	7: 28,352,501 (GRCm38)	D101E	probably benign	Het
Rpusd4	T	C	9: 35,268,535 (GRCm38)	V108A	probably benign	Het
Slc7a14	T	C	3: 31,209,212 (GRCm38)	K727R	probably benign	Het
Snx6	A	T	12: 54,751,971 (GRCm38)	F351I	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691 (GRCm38)		probably benign	Het
Togaram2	T	A	17: 71,714,242 (GRCm38)	Y675*	probably null	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
R4898:Atp13a4	UTSW	16	29,408,961 (GRCm38)	nonsense	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
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'- AGAGACACTGACATTGTGCAG -3'
(R):5'- TGAAAGGACACAAGTGCTCTC -3'

Sequencing Primer
(F):5'- CAGAGCCTTTGCACATTGAG -3'
(R):5'- GTGCTCTCACCAGTGAACC -3'

Posted On

2020-07-13