Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Atp13a1'

225533

Institutional Source

Beutler Lab

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, catp, Atp13a

MMRRC Submission

040047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70243813-70260399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70259702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1098 (T1098A)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034326] [ENSMUST00000036074] [ENSMUST00000123453]

AlphaFold

Q9EPE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034326
AA Change: T1098A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: T1098A

Domain	Start	End	E-Value	Type
low complexity region	54	62	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
Pfam:E1-E2_ATPase	264	515	3.2e-24	PFAM
Pfam:Hydrolase	524	781	2.2e-11	PFAM
Pfam:HAD	527	870	2.7e-27	PFAM
low complexity region	883	894	N/A	INTRINSIC
transmembrane domain	1045	1067	N/A	INTRINSIC
transmembrane domain	1093	1115	N/A	INTRINSIC
transmembrane domain	1130	1147	N/A	INTRINSIC
low complexity region	1173	1184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036074

SMART Domains

Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246

Domain	Start	End	E-Value	Type
PDB:3QWE\|A	85	356	1e-149	PDB
low complexity region	358	367	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
C1	491	536	1.75e-6	SMART
RhoGAP	561	753	1.06e-61	SMART
Blast:RhoGAP	824	971	1e-53	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123453

SMART Domains

Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246

Domain	Start	End	E-Value	Type
PDB:3QWE\|A	85	356	1e-150	PDB
low complexity region	358	367	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
C1	491	536	1.75e-6	SMART
RhoGAP	561	753	1.06e-61	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156620

Meta Mutation Damage Score

0.0780

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,607 (GRCm39)	I75L	probably benign	Het
Abca2	T	C	2: 25,333,817 (GRCm39)	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,454,364 (GRCm39)	I394L	probably benign	Het
Ano2	T	A	6: 126,016,471 (GRCm39)	N1001K	probably benign	Het
Arap2	A	T	5: 62,906,259 (GRCm39)	N253K	probably damaging	Het
Ascc3	T	C	10: 50,604,227 (GRCm39)	C1316R	probably benign	Het
Atox1	T	C	11: 55,341,343 (GRCm39)	Y64C	probably benign	Het
Casr	T	C	16: 36,330,728 (GRCm39)	E202G	possibly damaging	Het
Cct2	T	C	10: 116,889,018 (GRCm39)	T494A	probably benign	Het
Cd209e	T	A	8: 3,899,158 (GRCm39)	N185Y	probably damaging	Het
Celsr1	A	G	15: 85,917,088 (GRCm39)	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,686,499 (GRCm39)	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,121,567 (GRCm39)	S37G	probably benign	Het
Fbh1	T	G	2: 11,774,706 (GRCm39)	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem3	G	T	8: 81,342,455 (GRCm39)	V1583L	possibly damaging	Het
Gm21863	C	A	12: 20,004,515 (GRCm39)	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,452,132 (GRCm39)	T25A	possibly damaging	Het
Gm8674	T	C	13: 50,055,705 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,752,651 (GRCm39)	H897R	probably damaging	Het
Hells	A	G	19: 38,943,474 (GRCm39)	D565G	probably damaging	Het
Hfm1	C	T	5: 107,049,684 (GRCm39)	V426I	probably damaging	Het
Ints6	G	A	14: 62,951,138 (GRCm39)	T297I	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,268,845 (GRCm39)	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,938,069 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,815,807 (GRCm39)	D1230E	probably benign	Het
Mboat1	T	C	13: 30,425,300 (GRCm39)		probably null	Het
Moxd2	T	C	6: 40,861,887 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,495,916 (GRCm39)	M527T	probably damaging	Het
Myt1	T	A	2: 181,467,717 (GRCm39)	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,248,000 (GRCm39)	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,261,875 (GRCm39)	C48Y	probably damaging	Het
Opn3	G	A	1: 175,491,145 (GRCm39)	A296V	possibly damaging	Het
Or13a22	T	C	7: 140,073,295 (GRCm39)	I248T	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Pam	T	C	1: 97,792,167 (GRCm39)	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,525,126 (GRCm39)	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,509,300 (GRCm39)	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,363,162 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,833,107 (GRCm39)	F132S	probably damaging	Het
Robo1	T	C	16: 72,730,630 (GRCm39)	C244R	probably damaging	Het
Robo3	A	C	9: 37,338,760 (GRCm39)	V316G	probably damaging	Het
Rsl1	T	C	13: 67,330,145 (GRCm39)	S198P	probably damaging	Het
Rsph9	T	C	17: 46,445,910 (GRCm39)	D220G	probably damaging	Het
Rxfp2	A	C	5: 149,993,677 (GRCm39)	I580L	probably benign	Het
Septin7	G	A	9: 25,199,532 (GRCm39)	A144T	possibly damaging	Het
Sfn	T	C	4: 133,328,603 (GRCm39)	K160E	probably benign	Het
Ski	A	G	4: 155,306,029 (GRCm39)	Y317H	probably damaging	Het
Skic3	A	C	13: 76,328,222 (GRCm39)	R1423S	probably damaging	Het
Slc22a22	A	T	15: 57,110,936 (GRCm39)	Y430*	probably null	Het
Src	A	G	2: 157,299,030 (GRCm39)	K9R	probably benign	Het
Srm	C	T	4: 148,678,453 (GRCm39)	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,730,075 (GRCm39)	N90I	probably damaging	Het
Sytl2	T	A	7: 90,031,069 (GRCm39)		probably benign	Het
Tbpl2	T	C	2: 23,984,871 (GRCm39)	K92R	probably benign	Het
Tlcd4	G	T	3: 121,024,975 (GRCm39)		probably benign	Het
Tmem38a	T	A	8: 73,335,096 (GRCm39)	N178K	probably damaging	Het
Tnfaip3	T	C	10: 18,883,900 (GRCm39)	D160G	possibly damaging	Het
Vegfb	T	A	19: 6,963,407 (GRCm39)	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,395 (GRCm39)	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,661,561 (GRCm39)	L436F	probably damaging	Het
Wdr47	T	C	3: 108,530,688 (GRCm39)	C394R	probably benign	Het
Ythdc2	T	A	18: 44,988,241 (GRCm39)	Y16*	probably null	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,535,333 (GRCm39)		noncoding transcript	Het

Other mutations in Atp13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Atp13a1	APN	8	70,249,547 (GRCm39)	missense	probably damaging	1.00
IGL00949:Atp13a1	APN	8	70,252,653 (GRCm39)	splice site	probably benign
IGL01122:Atp13a1	APN	8	70,251,555 (GRCm39)	missense	probably damaging	1.00
IGL02399:Atp13a1	APN	8	70,259,751 (GRCm39)	missense	probably damaging	1.00
IGL02616:Atp13a1	APN	8	70,257,963 (GRCm39)	missense	probably benign
IGL03073:Atp13a1	APN	8	70,251,152 (GRCm39)	missense	probably damaging	1.00
yun_nan	UTSW	8	70,251,329 (GRCm39)	missense	probably damaging	1.00
P0005:Atp13a1	UTSW	8	70,256,397 (GRCm39)	missense	possibly damaging	0.88
R0086:Atp13a1	UTSW	8	70,250,424 (GRCm39)	missense	possibly damaging	0.86
R0384:Atp13a1	UTSW	8	70,249,974 (GRCm39)	missense	possibly damaging	0.89
R0973:Atp13a1	UTSW	8	70,254,794 (GRCm39)	critical splice donor site	probably null
R0973:Atp13a1	UTSW	8	70,254,794 (GRCm39)	critical splice donor site	probably null
R0974:Atp13a1	UTSW	8	70,254,794 (GRCm39)	critical splice donor site	probably null
R2010:Atp13a1	UTSW	8	70,244,010 (GRCm39)	missense	possibly damaging	0.77
R2069:Atp13a1	UTSW	8	70,252,423 (GRCm39)	missense	probably benign	0.00
R4274:Atp13a1	UTSW	8	70,257,942 (GRCm39)	missense	probably benign
R4288:Atp13a1	UTSW	8	70,246,728 (GRCm39)	missense	possibly damaging	0.89
R4470:Atp13a1	UTSW	8	70,251,329 (GRCm39)	missense	probably damaging	1.00
R5408:Atp13a1	UTSW	8	70,249,490 (GRCm39)	missense	probably benign	0.41
R5916:Atp13a1	UTSW	8	70,259,748 (GRCm39)	missense	probably damaging	1.00
R5920:Atp13a1	UTSW	8	70,252,746 (GRCm39)	missense	probably benign	0.02
R5951:Atp13a1	UTSW	8	70,249,935 (GRCm39)	missense	probably damaging	1.00
R6143:Atp13a1	UTSW	8	70,258,010 (GRCm39)	missense	probably benign
R6467:Atp13a1	UTSW	8	70,259,424 (GRCm39)	missense	probably damaging	1.00
R6487:Atp13a1	UTSW	8	70,252,528 (GRCm39)	missense	probably damaging	0.99
R7166:Atp13a1	UTSW	8	70,251,966 (GRCm39)	splice site	probably null
R7652:Atp13a1	UTSW	8	70,258,209 (GRCm39)	missense	probably damaging	0.97
R7942:Atp13a1	UTSW	8	70,259,870 (GRCm39)	missense	probably damaging	0.96
R8014:Atp13a1	UTSW	8	70,252,429 (GRCm39)	nonsense	probably null
R8228:Atp13a1	UTSW	8	70,251,569 (GRCm39)	missense	probably damaging	1.00
R8496:Atp13a1	UTSW	8	70,250,618 (GRCm39)	missense	probably damaging	1.00
R8951:Atp13a1	UTSW	8	70,246,484 (GRCm39)	missense	probably benign	0.01
R9000:Atp13a1	UTSW	8	70,254,725 (GRCm39)	missense	probably damaging	1.00
R9087:Atp13a1	UTSW	8	70,256,457 (GRCm39)	missense	probably damaging	1.00
R9721:Atp13a1	UTSW	8	70,252,087 (GRCm39)	missense	probably damaging	1.00
RF001:Atp13a1	UTSW	8	70,252,720 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGTGATGCTGCAATTCTCTG -3'
(R):5'- TTGTTCTCAGGCAGGCTCTC -3'

Sequencing Primer
(F):5'- CTGGTCTACCTGTACCGTGAG -3'
(R):5'- TCAGGCAGGCTCTCCATGAAG -3'

Posted On

2014-08-25