Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00563:Atp13a4'

277793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

4631413J11Rik, 9330174J19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00563

Quality Score

Status

Chromosome

Chromosomal Location

29214671-29363682 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 29222596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000057018

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094

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 benign
Transcript: ENSMUST00000182627

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 25,202,619 (GRCm39)		probably benign	Het
AU016765	C	A	17: 64,826,877 (GRCm39)		noncoding transcript	Het
Clstn2	A	G	9: 97,464,505 (GRCm39)		probably benign	Het
Crip1	T	A	12: 113,117,232 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Fktn	A	T	4: 53,747,007 (GRCm39)		probably null	Het
Fndc3a	C	A	14: 72,796,797 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,267,046 (GRCm39)	M1019K	unknown	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gzmk	C	T	13: 113,309,658 (GRCm39)	V92I	probably benign	Het
Mprip	C	T	11: 59,643,443 (GRCm39)	R520W	probably damaging	Het
Mrpl19	A	G	6: 81,942,853 (GRCm39)	V19A	probably benign	Het
Ndufb3	T	A	1: 58,634,958 (GRCm39)	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 110,382,779 (GRCm39)	V1675A	possibly damaging	Het
Saxo1	C	T	4: 86,363,809 (GRCm39)	E225K	probably damaging	Het
Sbno1	A	G	5: 124,540,268 (GRCm39)	S383P	probably damaging	Het
Slc22a29	T	A	19: 8,138,993 (GRCm39)	T490S	probably benign	Het
Smc6	T	A	12: 11,351,532 (GRCm39)	S854T	probably benign	Het
Smim23	T	C	11: 32,771,893 (GRCm39)	T58A	probably benign	Het
Tas2r134	T	C	2: 51,518,100 (GRCm39)	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,658 (GRCm39)		probably null	Het
Trav13n-4	T	G	14: 53,601,423 (GRCm39)	V64G	possibly damaging	Het
Trmt10a	G	A	3: 137,853,177 (GRCm39)	E13K	probably damaging	Het
Txndc11	T	C	16: 10,922,496 (GRCm39)	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,804,077 (GRCm39)	N442K	probably benign	Het
Vps13a	C	T	19: 16,712,078 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,366 (GRCm39)	D5G	probably benign	Het

Other mutations in Atp13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16