Mutagenetix > Incidental Mutation

Incidental Mutation 'R7942:Atp13a1'

649110

Institutional Source

Beutler Lab

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, Atp13a, catp

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_133224.2; MGI: 2180801

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7942 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69791163-69807749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69807220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1126 (E1126G)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

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

AlphaFold

Q9EPE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034326
AA Change: E1126G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: E1126G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	A	G	8: 11,655,615	I164T	unknown	Het
Abcg3	A	G	5: 104,939,161	I565T	probably damaging	Het
Adamts8	G	A	9: 30,953,482	C423Y	probably damaging	Het
Adamts8	G	A	9: 30,958,913		probably null	Het
Ahctf1	A	C	1: 179,786,095	V490G	possibly damaging	Het
Akap13	A	G	7: 75,611,470	T478A	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ano9	T	C	7: 141,104,076	S559G	probably damaging	Het
Aox2	A	G	1: 58,337,431	T924A	probably damaging	Het
Bcan	A	G	3: 87,993,075	V617A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cldnd1	A	T	16: 58,729,715	N87I	possibly damaging	Het
Enpp2	A	T	15: 54,845,879	V784E	probably damaging	Het
Eps8	T	A	6: 137,530,577	Y51F	possibly damaging	Het
Fam184b	T	C	5: 45,584,253	K212R	probably benign	Het
Fbn1	A	C	2: 125,412,786	C186G	possibly damaging	Het
Fsip1	G	A	2: 118,136,611	T411I	probably benign	Het
Glyr1	T	C	16: 5,018,921	T460A	probably benign	Het
Gm19410	G	A	8: 35,771,786	G70R	probably damaging	Het
Gna15	G	A	10: 81,523,911	T15I	probably damaging	Het
Heg1	T	C	16: 33,751,200	C1198R	probably damaging	Het
Hoxd1	A	G	2: 74,764,160	Y253C	probably damaging	Het
Il17re	G	T	6: 113,466,150	Q316H	probably damaging	Het
Jakmip1	C	A	5: 37,173,838	P621T	probably benign	Het
Krt71	T	C	15: 101,735,459	Y448C	probably damaging	Het
Lgals8	A	G	13: 12,453,256		probably null	Het
March11	A	G	15: 26,409,419	*401W	probably null	Het
Mctp1	A	T	13: 76,641,710		probably null	Het
Mms19	C	A	19: 41,955,961	V310F	probably damaging	Het
Mycbp2	A	T	14: 103,155,238	F3296I	probably damaging	Het
Myo7b	A	T	18: 32,013,369	I121N	probably damaging	Het
Nr0b2	T	C	4: 133,553,536	S38P	probably benign	Het
Nudt16l1	T	A	16: 4,939,379	M52K	probably benign	Het
Olfr1079	T	C	2: 86,538,222	N229S	probably benign	Het
Olfr399	A	G	11: 74,054,228	I177T	probably damaging	Het
Polr3gl	A	T	3: 96,582,236		probably null	Het
Ptch2	T	A	4: 117,106,001	F228L	probably benign	Het
Slc35d1	A	G	4: 103,213,163		probably null	Het
Slc41a1	G	A	1: 131,840,897	V198I	probably damaging	Het
Slc5a7	T	C	17: 54,276,681	D527G	possibly damaging	Het
Spag16	G	T	1: 69,827,088	A29S	probably benign	Het
Speer4f2	T	A	5: 17,377,632	D284E	unknown	Het
Sspo	A	G	6: 48,488,500		probably null	Het
Tdpoz1	T	C	3: 93,671,210	K89R	possibly damaging	Het
Tek	C	T	4: 94,851,874		probably null	Het
Tet3	C	T	6: 83,376,974	V902M	probably damaging	Het
Tpcn2	C	T	7: 145,257,191	V590M	probably damaging	Het
Trcg1	T	C	9: 57,242,216	V357A	probably benign	Het
Tspan18	A	G	2: 93,210,858	V133A	probably benign	Het
Unc5b	A	T	10: 60,777,543	W305R	probably damaging	Het
Vmn2r95	T	A	17: 18,440,267	L314I	possibly damaging	Het
Wdsub1	G	A	2: 59,876,717	A178V	probably damaging	Het
Zfp407	A	G	18: 84,559,629	S1120P	probably benign	Het
Zfp57	T	C	17: 37,009,674	F140S	probably damaging	Het

Other mutations in Atp13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Atp13a1	APN	8	69796897	missense	probably damaging	1.00
IGL00949:Atp13a1	APN	8	69800003	splice site	probably benign
IGL01122:Atp13a1	APN	8	69798905	missense	probably damaging	1.00
IGL02399:Atp13a1	APN	8	69807101	missense	probably damaging	1.00
IGL02616:Atp13a1	APN	8	69805313	missense	probably benign
IGL03073:Atp13a1	APN	8	69798502	missense	probably damaging	1.00
yun_nan	UTSW	8	69798679	missense	probably damaging	1.00
P0005:Atp13a1	UTSW	8	69803747	missense	possibly damaging	0.88
R0086:Atp13a1	UTSW	8	69797774	missense	possibly damaging	0.86
R0384:Atp13a1	UTSW	8	69797324	missense	possibly damaging	0.89
R0973:Atp13a1	UTSW	8	69802144	critical splice donor site	probably null
R0973:Atp13a1	UTSW	8	69802144	critical splice donor site	probably null
R0974:Atp13a1	UTSW	8	69802144	critical splice donor site	probably null
R2010:Atp13a1	UTSW	8	69791360	missense	possibly damaging	0.77
R2040:Atp13a1	UTSW	8	69807052	missense	possibly damaging	0.76
R2069:Atp13a1	UTSW	8	69799773	missense	probably benign	0.00
R4274:Atp13a1	UTSW	8	69805292	missense	probably benign
R4288:Atp13a1	UTSW	8	69794078	missense	possibly damaging	0.89
R4470:Atp13a1	UTSW	8	69798679	missense	probably damaging	1.00
R5408:Atp13a1	UTSW	8	69796840	missense	probably benign	0.41
R5916:Atp13a1	UTSW	8	69807098	missense	probably damaging	1.00
R5920:Atp13a1	UTSW	8	69800096	missense	probably benign	0.02
R5951:Atp13a1	UTSW	8	69797285	missense	probably damaging	1.00
R6143:Atp13a1	UTSW	8	69805360	missense	probably benign
R6467:Atp13a1	UTSW	8	69806774	missense	probably damaging	1.00
R6487:Atp13a1	UTSW	8	69799878	missense	probably damaging	0.99
R7166:Atp13a1	UTSW	8	69799316	splice site	probably null
R7652:Atp13a1	UTSW	8	69805559	missense	probably damaging	0.97
R8014:Atp13a1	UTSW	8	69799779	nonsense	probably null
R8228:Atp13a1	UTSW	8	69798919	missense	probably damaging	1.00
R8496:Atp13a1	UTSW	8	69797968	missense	probably damaging	1.00
R8951:Atp13a1	UTSW	8	69793834	missense	probably benign	0.01
R9000:Atp13a1	UTSW	8	69802075	missense	probably damaging	1.00
R9087:Atp13a1	UTSW	8	69803807	missense	probably damaging	1.00
R9721:Atp13a1	UTSW	8	69799437	missense	probably damaging	1.00
RF001:Atp13a1	UTSW	8	69800070	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTACAAGGAGTTTGAGCCG -3'
(R):5'- CCGATGACCAGCTTGAACTG -3'

Sequencing Primer
(F):5'- CCTGGTCAACAGCACTGTGTAC -3'
(R):5'- AAGCAGGCTGAGCTGGGTC -3'

Posted On

2020-09-15