Mutagenetix > Incidental Mutation

Incidental Mutation 'R0086:Atp13a1'

19898

Institutional Source

Beutler Lab

Gene Symbol

Atp13a1

Ensembl Gene

ENSMUSG00000031862

Gene Name

ATPase type 13A1

Synonyms

Cgi152, catp, Atp13a

MMRRC Submission

038373-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70243813-70260399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70250424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 381 (I381N)

Ref Sequence

ENSEMBL: ENSMUSP00000034326 (fasta)

Gene Model

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

AlphaFold

Q9EPE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034326
AA Change: I381N

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: I381N

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

Meta Mutation Damage Score

0.9438

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.6%
20x: 86.6%

Validation Efficiency

96% (91/95)

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,946,802 (GRCm39)	V233D	probably benign	Het
Abcg8	T	C	17: 85,000,199 (GRCm39)	V252A	probably damaging	Het
Adam39	C	T	8: 41,279,397 (GRCm39)	T596I	possibly damaging	Het
Agap2	C	A	10: 126,923,751 (GRCm39)		probably null	Het
Ap4b1	T	G	3: 103,722,176 (GRCm39)	V50G	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Birc6	T	C	17: 74,900,161 (GRCm39)	V1113A	possibly damaging	Het
C1galt1	T	A	6: 7,867,051 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,660,773 (GRCm39)	K158E	probably damaging	Het
Cenpe	C	T	3: 134,970,185 (GRCm39)		probably benign	Het
Cercam	T	C	2: 29,761,076 (GRCm39)	L42P	probably damaging	Het
Cfap54	T	C	10: 92,864,456 (GRCm39)	E807G	possibly damaging	Het
Cog6	A	G	3: 52,900,991 (GRCm39)	V157A	probably damaging	Het
Cts6	A	T	13: 61,344,271 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,357 (GRCm39)	I15F	unknown	Het
Dock7	A	T	4: 98,833,381 (GRCm39)	V1970D	probably damaging	Het
Exph5	A	G	9: 53,249,230 (GRCm39)	D73G	possibly damaging	Het
Gjc2	A	T	11: 59,067,672 (GRCm39)	M270K	probably benign	Het
Gns	G	A	10: 121,227,378 (GRCm39)	D463N	probably damaging	Het
Hoxd8	G	T	2: 74,536,276 (GRCm39)	G129W	probably damaging	Het
Ina	A	G	19: 47,012,030 (GRCm39)	T483A	possibly damaging	Het
Lmod3	T	A	6: 97,224,306 (GRCm39)	Q505L	probably damaging	Het
Map3k13	A	G	16: 21,732,975 (GRCm39)	N526D	probably damaging	Het
Map3k2	A	T	18: 32,351,521 (GRCm39)	I435F	probably damaging	Het
Mfsd6l	A	G	11: 68,447,391 (GRCm39)	T81A	probably benign	Het
Micall1	T	C	15: 79,009,689 (GRCm39)		probably benign	Het
Mkrn2	G	T	6: 115,590,296 (GRCm39)	M217I	possibly damaging	Het
Mtrex	G	T	13: 113,063,862 (GRCm39)	F10L	probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Ncapg	A	G	5: 45,834,086 (GRCm39)		probably null	Het
Nlrp9a	G	A	7: 26,257,972 (GRCm39)	C530Y	probably damaging	Het
Numb	T	C	12: 83,842,704 (GRCm39)	T442A	probably damaging	Het
Oip5	C	T	2: 119,448,410 (GRCm39)		probably benign	Het
Or1j14	A	T	2: 36,417,462 (GRCm39)	I13F	possibly damaging	Het
Or4c119	C	T	2: 88,986,820 (GRCm39)	R233H	probably benign	Het
Or51k1	A	G	7: 103,661,261 (GRCm39)	I216T	probably benign	Het
Or8g22	T	C	9: 38,958,191 (GRCm39)	T175A	probably benign	Het
Pcnx1	T	C	12: 82,038,832 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,419,404 (GRCm39)	N2956K	possibly damaging	Het
Plcl1	T	A	1: 55,754,742 (GRCm39)	W1030R	probably damaging	Het
Polr2i	G	A	7: 29,932,511 (GRCm39)	V73M	probably damaging	Het
Prr14l	T	A	5: 32,988,903 (GRCm39)		probably benign	Het
Pxdn	G	T	12: 30,052,418 (GRCm39)	R865L	possibly damaging	Het
Scnn1a	T	C	6: 125,319,550 (GRCm39)		probably benign	Het
Shkbp1	G	T	7: 27,051,451 (GRCm39)	H203N	probably benign	Het
Slc22a14	C	T	9: 119,051,804 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,246,100 (GRCm39)	T240K	probably damaging	Het
Sp2	C	A	11: 96,848,253 (GRCm39)	G457C	probably damaging	Het
Ssr2	C	T	3: 88,484,187 (GRCm39)		probably benign	Het
Synpo2	A	T	3: 122,910,753 (GRCm39)	C297*	probably null	Het
Tpm3	T	A	3: 89,997,399 (GRCm39)		probably benign	Het
Trmt6	CTG	C	2: 132,650,937 (GRCm39)		probably benign	Het
Trp63	T	C	16: 25,689,837 (GRCm39)	Y431H	probably damaging	Het
Tuba3b	T	A	6: 145,566,886 (GRCm39)	C376S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Ulk1	G	A	5: 110,935,573 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,249,557 (GRCm39)	S1425P	probably damaging	Het
Xdh	T	C	17: 74,191,433 (GRCm39)	I1335V	probably benign	Het
Zmynd15	T	C	11: 70,355,058 (GRCm39)	Y352H	probably damaging	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
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
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'- GCTGGAGTCATTGCCATAGGAGTC -3'
(R):5'- GGATGTGTTGAACCCAGTTCTCAGG -3'

Sequencing Primer
(F):5'- CATTGCCATAGGAGTCTGGAGC -3'
(R):5'- GGCCACACATCCATTGTCG -3'

Posted On

2013-04-11