Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Atp13a1'

488680

Institutional Source

Beutler Lab

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, Atp13a, catp

MMRRC Submission

044290-MU

Accession Numbers

Ncbi RefSeq: NM_133224.2; MGI: 2180801

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69791163-69807749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69805360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 922 (P922S)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

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

AlphaFold

Q9EPE9

Predicted Effect

probably benign
Transcript: ENSMUST00000034326
AA Change: P922S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: P922S

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

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

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,560,279		probably benign	Het
Abcd2	A	T	15: 91,190,947	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,730,406	K853*	probably null	Het
Art2a-ps	T	C	7: 101,555,223	D36G	possibly damaging	Het
Brwd1	C	T	16: 96,002,956	G2005R	probably benign	Het
Bzw2	A	T	12: 36,120,726	M133K	probably benign	Het
Cacna1s	T	G	1: 136,076,758	S346A	probably damaging	Het
Cebpb	C	A	2: 167,689,300	D93E	probably benign	Het
Cep162	C	A	9: 87,212,851		probably null	Het
Col9a2	A	T	4: 121,053,863	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,373,550	N372I	probably damaging	Het
Csmd1	T	C	8: 16,088,301	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,253,965	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,620,776	R28W	probably benign	Het
Dbndd2	C	A	2: 164,488,286	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,231	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,927,134	E211G	probably benign	Het
Dnpep	G	A	1: 75,315,228	H214Y	probably damaging	Het
Drc3	G	A	11: 60,370,580	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,527,039	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,886,651		probably null	Het
Edc4	T	A	8: 105,885,874	D181E	probably damaging	Het
Enthd1	T	C	15: 80,509,286	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,654,915	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,466,855	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,036,551	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,801,232	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,838,618	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,809,684		probably null	Het
Irgm2	A	T	11: 58,220,609	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,833,696	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,853,883	N43K	probably damaging	Het
Mme	T	G	3: 63,300,111		probably null	Het
Mrps31	T	G	8: 22,411,523	S20A	probably benign	Het
Myo5c	A	G	9: 75,249,809	R176G	probably damaging	Het
Naf1	T	C	8: 66,877,695	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,251,307	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,364,003		probably null	Het
Neurod4	T	G	10: 130,271,000	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,760,815	N396I	probably damaging	Het
Nvl	T	G	1: 181,134,995	T137P	probably benign	Het
Olfr483	A	G	7: 108,104,128	D273G	probably damaging	Het
Papola	T	C	12: 105,826,960	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,817,600	S690T	possibly damaging	Het
Pck1	A	T	2: 173,154,012	D101V	probably damaging	Het
Pdilt	T	A	7: 119,495,042	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,989,613	R648W	probably damaging	Het
Prtn3	T	A	10: 79,880,548	I63N	probably damaging	Het
Psg22	C	T	7: 18,722,798	A163V	probably benign	Het
Pten	A	G	19: 32,800,085	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,146,886	D449G	probably damaging	Het
Scn9a	T	C	2: 66,487,524	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,999,254	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,026,339	V14I	probably benign	Het
Snai2	A	T	16: 14,708,243	R253*	probably null	Het
Speg	G	A	1: 75,414,387	V1512I	probably damaging	Het
Srsf1	G	A	11: 88,049,599		probably benign	Het
Tctn3	G	T	19: 40,609,227	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,539,699	I117L	probably benign	Het
Ttn	G	A	2: 76,852,069	R959*	probably null	Het
Vmn2r118	G	T	17: 55,592,871	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,738	S1594P	probably damaging	Het
Vps13d	G	T	4: 145,148,565	H1791N	possibly 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
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
R7942:Atp13a1	UTSW	8	69807220	missense	probably damaging	0.96
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'- TGCAACTGAACACTGGTACC -3'
(R):5'- ACTGGATGGAGGACAGCTTG -3'

Sequencing Primer
(F):5'- TACCAGACCGTGTGCCC -3'
(R):5'- AGCTTGGAGGTGAAGGGTGC -3'

Posted On

2017-10-10