Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Atp13a1'

730796

Institutional Source

Beutler Lab

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, catp, Atp13a

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70243813-70260399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70252087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 588 (E588G)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

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

AlphaFold

Q9EPE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034326
AA Change: E588G

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

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: E588G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,212,932 (GRCm39)	Y120N	probably benign	Het
AAdacl4fm3	A	T	4: 144,429,942 (GRCm39)	V349D	possibly damaging	Het
Alox8	T	A	11: 69,087,911 (GRCm39)	H131L	probably benign	Het
AU040320	G	A	4: 126,733,441 (GRCm39)	V654M	probably damaging	Het
Bicra	A	G	7: 15,713,101 (GRCm39)	L982P	probably damaging	Het
Cdh11	A	T	8: 103,406,257 (GRCm39)	V72E	probably damaging	Het
Cfap65	T	C	1: 74,958,501 (GRCm39)	T869A	probably benign	Het
Cplane1	A	G	15: 8,254,893 (GRCm39)	T27A	unknown	Het
Ddx19a	A	G	8: 111,705,107 (GRCm39)	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,705,904 (GRCm39)	V219E	probably damaging	Het
Dhx33	A	G	11: 70,892,424 (GRCm39)	V115A	probably damaging	Het
Dst	A	G	1: 34,231,866 (GRCm39)	D3153G	probably benign	Het
Ecpas	A	T	4: 58,850,938 (GRCm39)	S412T	probably benign	Het
Eif5b	T	C	1: 38,076,740 (GRCm39)		probably null	Het
Ep300	A	G	15: 81,492,516 (GRCm39)	N284S	unknown	Het
Fam83a	A	G	15: 57,849,513 (GRCm39)	N19S	probably benign	Het
Fgd5	A	T	6: 91,965,278 (GRCm39)	T504S	probably benign	Het
Flt4	G	A	11: 49,535,260 (GRCm39)		probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gls	A	G	1: 52,251,427 (GRCm39)	V310A	probably damaging	Het
Gm5414	A	T	15: 101,536,582 (GRCm39)	C14*	probably null	Het
Gm9887	C	G	12: 69,418,629 (GRCm39)	A202P	unknown	Het
Ifi214	T	C	1: 173,355,479 (GRCm39)	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,489,113 (GRCm39)	R293G	probably benign	Het
Itpr1	A	T	6: 108,383,063 (GRCm39)	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,123,400 (GRCm39)	S225P	probably damaging	Het
Kif21a	A	T	15: 90,855,330 (GRCm39)	I678N	probably damaging	Het
Klf11	T	A	12: 24,710,240 (GRCm39)	D429E	probably damaging	Het
Kntc1	A	G	5: 123,939,948 (GRCm39)	T1581A	probably benign	Het
Lama2	T	C	10: 27,343,338 (GRCm39)	N45D	possibly damaging	Het
Lrrk1	T	C	7: 65,924,623 (GRCm39)	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Malrd1	C	T	2: 15,701,638 (GRCm39)	T751I	unknown	Het
Matcap1	A	T	8: 106,009,820 (GRCm39)	D376E	probably benign	Het
Mgat5b	T	C	11: 116,857,595 (GRCm39)	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,436,738 (GRCm39)	S535R	possibly damaging	Het
Nckap5	C	T	1: 125,955,017 (GRCm39)	D512N	probably damaging	Het
Ngef	T	A	1: 87,406,857 (GRCm39)	D637V	probably damaging	Het
Nup93	T	C	8: 95,030,313 (GRCm39)	Y391H	probably damaging	Het
Or10j7	C	A	1: 173,011,915 (GRCm39)	V29F	probably benign	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or5b3	A	T	19: 13,388,334 (GRCm39)	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,442,905 (GRCm39)	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Psd	C	T	19: 46,311,628 (GRCm39)	D351N	probably benign	Het
Pzp	A	G	6: 128,472,154 (GRCm39)		probably null	Het
Rerg	T	A	6: 137,033,415 (GRCm39)	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854 (GRCm39)	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,453,865 (GRCm39)	Y8*	probably null	Het
Spata31e3	T	C	13: 50,400,688 (GRCm39)	Y546C	possibly damaging	Het
Spn	A	G	7: 126,735,437 (GRCm39)	S357P	probably benign	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,866,762 (GRCm39)	H531L	probably benign	Het
Trpm6	A	G	19: 18,807,336 (GRCm39)	M1027V	probably benign	Het
Tsc2	G	A	17: 24,818,616 (GRCm39)	R1408*	probably null	Het
Tut4	T	A	4: 108,412,778 (GRCm39)	M1493K	probably benign	Het
Unc13b	A	G	4: 43,101,869 (GRCm39)	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,156,008 (GRCm39)	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,148,255 (GRCm39)	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,168,770 (GRCm39)	Q1035K	unknown	Het
Zfp14	A	T	7: 29,738,609 (GRCm39)	S125R	probably benign	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
R2040:Atp13a1	UTSW	8	70,259,702 (GRCm39)	missense	possibly damaging	0.76
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
RF001:Atp13a1	UTSW	8	70,252,720 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCTTGGTAGAGGTACAGTTCACC -3'
(R):5'- AGGATCATCCCAGTACAGTGAG -3'

Sequencing Primer
(F):5'- GTAGAGGTACAGTTCACCCACCC -3'
(R):5'- TCATCCCAGTACAGTGAGTGGATC -3'

Posted On

2022-10-06