Mutagenetix > Incidental Mutation

Incidental Mutation 'R8358:Atp13a5'

645884

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

067871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29050603-29197550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29167805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 118 (I118T)

Ref Sequence

ENSEMBL: ENSMUSP00000075204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000152040]

AlphaFold

Q3TYU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075806
AA Change: I118T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: I118T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	4.1e-31	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	228	475	1.5e-35	PFAM
Pfam:Hydrolase	480	759	2.7e-11	PFAM
Pfam:HAD	483	857	1.1e-28	PFAM
Pfam:Cation_ATPase	564	638	1.3e-6	PFAM
transmembrane domain	901	923	N/A	INTRINSIC
transmembrane domain	933	950	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC
transmembrane domain	1042	1061	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142681
AA Change: I118T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: I118T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	7.5e-25	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	229	475	1e-36	PFAM
Pfam:Hydrolase	480	860	5.9e-16	PFAM
Pfam:HAD	483	857	4e-27	PFAM
Pfam:Hydrolase_like2	565	638	3.7e-8	PFAM
transmembrane domain	901	923	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143373
AA Change: I118T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: I118T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	1e-24	PFAM
Pfam:E1-E2_ATPase	196	430	3.2e-34	PFAM
Pfam:Hydrolase	435	815	9.1e-16	PFAM
Pfam:HAD	438	812	6.2e-27	PFAM
Pfam:Hydrolase_like2	520	593	4.8e-8	PFAM
transmembrane domain	856	878	N/A	INTRINSIC
transmembrane domain	888	905	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
transmembrane domain	997	1016	N/A	INTRINSIC
transmembrane domain	1025	1047	N/A	INTRINSIC
transmembrane domain	1062	1084	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152040
AA Change: I118T

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114703
Gene: ENSMUSG00000048939
AA Change: I118T

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	143	1.4e-25	PFAM
Cation_ATPase_N	149	209	8.78e0	SMART
low complexity region	213	227	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (49/49)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,367,796 (GRCm39)	S52P	possibly damaging	Het
Adamts19	G	T	18: 59,181,881 (GRCm39)	G1107C	probably damaging	Het
Afap1	A	T	5: 36,131,830 (GRCm39)	T386S	probably benign	Het
Alg12	T	C	15: 88,695,503 (GRCm39)	Y331C	probably null	Het
Aste1	T	A	9: 105,274,255 (GRCm39)	I165N	probably damaging	Het
AW551984	A	G	9: 39,510,651 (GRCm39)	V228A	probably damaging	Het
Cachd1	A	G	4: 100,816,668 (GRCm39)	Y357C	possibly damaging	Het
Cacul1	T	A	19: 60,551,673 (GRCm39)	H183L	possibly damaging	Het
Casp16	T	A	17: 23,772,348 (GRCm39)	I39F	probably damaging	Het
Chd7	G	T	4: 8,839,529 (GRCm39)	C1355F	probably damaging	Het
Csnk1a1	A	G	18: 61,713,610 (GRCm39)		probably null	Het
Ctif	G	A	18: 75,698,115 (GRCm39)	H182Y	possibly damaging	Het
Cubn	C	T	2: 13,329,971 (GRCm39)	V2637I	probably benign	Het
Dlx1	T	A	2: 71,360,652 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,376,457 (GRCm39)	N1414S	possibly damaging	Het
Erich6	A	T	3: 58,544,449 (GRCm39)	L46*	probably null	Het
Fcho2	G	A	13: 98,862,282 (GRCm39)	R804*	probably null	Het
Gas7	T	A	11: 67,543,734 (GRCm39)	I114N	probably benign	Het
Gpr137b	T	C	13: 13,533,929 (GRCm39)	T376A	probably benign	Het
H2-T24	T	C	17: 36,328,229 (GRCm39)	M85V	probably benign	Het
Klk1b16	T	A	7: 43,790,185 (GRCm39)	C152S	probably damaging	Het
Lrrc31	G	A	3: 30,753,932 (GRCm39)		probably benign	Het
Magt1	C	T	X: 105,040,501 (GRCm39)	A100T	probably benign	Het
Mki67	T	C	7: 135,301,855 (GRCm39)	K1060E	possibly damaging	Het
Nif3l1	A	T	1: 58,491,288 (GRCm39)	T213S	probably benign	Het
Oasl1	T	A	5: 115,075,465 (GRCm39)	F508L	probably benign	Het
Or10ak8	A	T	4: 118,773,723 (GRCm39)	*314R	probably null	Het
Or2a25	T	C	6: 42,888,976 (GRCm39)	V173A	possibly damaging	Het
Or4a80	C	T	2: 89,582,423 (GRCm39)	V250I	probably benign	Het
Or5b122	T	C	19: 13,562,764 (GRCm39)	L32P	probably damaging	Het
Psg23	T	C	7: 18,348,522 (GRCm39)	D95G	probably benign	Het
Ptprr	T	C	10: 115,884,180 (GRCm39)	I79T	probably benign	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rhbg	T	A	3: 88,152,525 (GRCm39)	N340Y	probably damaging	Het
Sash1	C	A	10: 8,605,745 (GRCm39)	V882L	probably benign	Het
Sharpin	C	T	15: 76,232,197 (GRCm39)	V220I	probably damaging	Het
Slc22a22	T	A	15: 57,108,243 (GRCm39)	D524V	probably damaging	Het
Slc43a3	T	C	2: 84,780,860 (GRCm39)	Y362H	probably benign	Het
Slc4a3	T	A	1: 75,530,359 (GRCm39)	D687E	probably damaging	Het
Slco1a5	A	G	6: 142,208,411 (GRCm39)	S127P	probably benign	Het
Spg11	T	C	2: 121,910,739 (GRCm39)	I1213V	possibly damaging	Het
Synj2	T	A	17: 6,074,080 (GRCm39)	Y813*	probably null	Het
Tbc1d10a	T	C	11: 4,155,837 (GRCm39)	M131T	probably damaging	Het
Tnfrsf19	C	A	14: 61,208,634 (GRCm39)	V296F	probably benign	Het
Trim45	T	C	3: 100,834,634 (GRCm39)	V439A	probably damaging	Het
Trim54	A	G	5: 31,294,338 (GRCm39)	T325A	probably benign	Het
Usp40	T	C	1: 87,908,770 (GRCm39)	E577G	possibly damaging	Het
Uts2r	T	A	11: 121,051,345 (GRCm39)	Y70N	probably damaging	Het
Vmn1r72	T	G	7: 11,404,310 (GRCm39)	D46A	probably damaging	Het
Zfc3h1	T	C	10: 115,240,198 (GRCm39)	V577A	probably benign	Het
Zfp987	T	G	4: 146,061,343 (GRCm39)	H258Q	probably damaging	Het

Other mutations in Atp13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp13a5	APN	16	29,085,766 (GRCm39)	nonsense	probably null
IGL00583:Atp13a5	APN	16	29,094,205 (GRCm39)	splice site	probably benign
IGL01472:Atp13a5	APN	16	29,094,175 (GRCm39)	missense	probably damaging	1.00
IGL01473:Atp13a5	APN	16	29,135,542 (GRCm39)	missense	probably damaging	1.00
IGL02142:Atp13a5	APN	16	29,053,315 (GRCm39)	missense	probably benign	0.01
IGL02346:Atp13a5	APN	16	29,146,554 (GRCm39)	nonsense	probably null
IGL02454:Atp13a5	APN	16	29,051,560 (GRCm39)	missense	probably benign	0.35
IGL02557:Atp13a5	APN	16	29,066,934 (GRCm39)	missense	probably benign	0.24
IGL02651:Atp13a5	APN	16	29,152,909 (GRCm39)	splice site	probably benign
IGL02697:Atp13a5	APN	16	29,167,350 (GRCm39)	missense	probably benign
IGL02704:Atp13a5	APN	16	29,070,080 (GRCm39)	nonsense	probably null
IGL02993:Atp13a5	APN	16	29,112,322 (GRCm39)	nonsense	probably null
IGL03329:Atp13a5	APN	16	29,152,883 (GRCm39)	nonsense	probably null
IGL03346:Atp13a5	APN	16	29,133,422 (GRCm39)	missense	probably benign	0.15
IGL03493:Atp13a5	APN	16	29,116,342 (GRCm39)	missense	probably benign
PIT4810001:Atp13a5	UTSW	16	29,133,382 (GRCm39)	missense	probably damaging	1.00
R0356:Atp13a5	UTSW	16	29,167,573 (GRCm39)	splice site	probably benign
R0393:Atp13a5	UTSW	16	29,085,681 (GRCm39)	splice site	probably benign
R0456:Atp13a5	UTSW	16	29,051,492 (GRCm39)	missense	probably benign	0.03
R0526:Atp13a5	UTSW	16	29,167,558 (GRCm39)	missense	probably damaging	0.97
R0632:Atp13a5	UTSW	16	29,117,026 (GRCm39)	missense	probably benign	0.00
R0674:Atp13a5	UTSW	16	29,067,102 (GRCm39)	splice site	probably benign
R1417:Atp13a5	UTSW	16	29,117,053 (GRCm39)	missense	probably benign	0.00
R1470:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.19
R1470:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.19
R1515:Atp13a5	UTSW	16	29,152,792 (GRCm39)	missense	probably benign	0.23
R1659:Atp13a5	UTSW	16	29,112,251 (GRCm39)	missense	probably benign
R1723:Atp13a5	UTSW	16	29,051,551 (GRCm39)	missense	possibly damaging	0.88
R1779:Atp13a5	UTSW	16	29,133,478 (GRCm39)	missense	possibly damaging	0.67
R1794:Atp13a5	UTSW	16	29,140,527 (GRCm39)	missense	probably damaging	1.00
R1958:Atp13a5	UTSW	16	29,133,419 (GRCm39)	missense	probably damaging	1.00
R2218:Atp13a5	UTSW	16	29,140,464 (GRCm39)	missense	probably damaging	0.99
R2282:Atp13a5	UTSW	16	29,056,073 (GRCm39)	missense	probably damaging	1.00
R2356:Atp13a5	UTSW	16	29,099,887 (GRCm39)	missense	probably damaging	1.00
R2365:Atp13a5	UTSW	16	29,070,008 (GRCm39)	missense	probably benign	0.00
R2497:Atp13a5	UTSW	16	29,157,889 (GRCm39)	nonsense	probably null
R2517:Atp13a5	UTSW	16	29,116,215 (GRCm39)	missense	possibly damaging	0.79
R3552:Atp13a5	UTSW	16	29,129,584 (GRCm39)	missense	probably damaging	1.00
R3685:Atp13a5	UTSW	16	29,135,573 (GRCm39)	missense	probably damaging	1.00
R3957:Atp13a5	UTSW	16	29,117,012 (GRCm39)	missense	probably benign	0.01
R4433:Atp13a5	UTSW	16	29,100,842 (GRCm39)	missense	probably damaging	0.99
R4503:Atp13a5	UTSW	16	29,112,346 (GRCm39)	missense	probably benign	0.37
R4579:Atp13a5	UTSW	16	29,067,090 (GRCm39)	critical splice acceptor site	probably null
R4632:Atp13a5	UTSW	16	29,167,537 (GRCm39)	missense	probably damaging	1.00
R4718:Atp13a5	UTSW	16	29,066,922 (GRCm39)	missense	probably damaging	1.00
R4865:Atp13a5	UTSW	16	29,066,912 (GRCm39)	missense	probably damaging	0.98
R4899:Atp13a5	UTSW	16	29,197,318 (GRCm39)	missense	probably damaging	1.00
R4909:Atp13a5	UTSW	16	29,152,846 (GRCm39)	missense	possibly damaging	0.81
R5011:Atp13a5	UTSW	16	29,169,566 (GRCm39)	missense	probably damaging	1.00
R5013:Atp13a5	UTSW	16	29,169,566 (GRCm39)	missense	probably damaging	1.00
R5032:Atp13a5	UTSW	16	29,082,202 (GRCm39)	missense	probably damaging	1.00
R5226:Atp13a5	UTSW	16	29,067,031 (GRCm39)	missense	probably damaging	1.00
R5485:Atp13a5	UTSW	16	29,100,760 (GRCm39)	critical splice donor site	probably null
R5598:Atp13a5	UTSW	16	29,075,829 (GRCm39)	intron	probably benign
R5945:Atp13a5	UTSW	16	29,055,995 (GRCm39)	missense	probably benign	0.06
R5958:Atp13a5	UTSW	16	29,157,860 (GRCm39)	missense	probably damaging	1.00
R6194:Atp13a5	UTSW	16	29,127,057 (GRCm39)	missense	probably damaging	1.00
R6214:Atp13a5	UTSW	16	29,070,159 (GRCm39)	missense	probably damaging	1.00
R6273:Atp13a5	UTSW	16	29,167,555 (GRCm39)	missense	probably benign	0.10
R6376:Atp13a5	UTSW	16	29,056,004 (GRCm39)	missense	probably benign	0.00
R6431:Atp13a5	UTSW	16	29,070,154 (GRCm39)	missense	possibly damaging	0.93
R6495:Atp13a5	UTSW	16	29,140,440 (GRCm39)	critical splice donor site	probably null
R6619:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.05
R6853:Atp13a5	UTSW	16	29,140,480 (GRCm39)	missense	possibly damaging	0.94
R6932:Atp13a5	UTSW	16	29,100,769 (GRCm39)	missense	probably damaging	1.00
R7070:Atp13a5	UTSW	16	29,152,879 (GRCm39)	missense	possibly damaging	0.88
R7343:Atp13a5	UTSW	16	29,140,567 (GRCm39)	missense	probably benign	0.01
R7425:Atp13a5	UTSW	16	29,116,278 (GRCm39)	nonsense	probably null
R7570:Atp13a5	UTSW	16	29,085,715 (GRCm39)	missense	probably damaging	1.00
R7781:Atp13a5	UTSW	16	29,116,226 (GRCm39)	missense	probably benign	0.00
R7876:Atp13a5	UTSW	16	29,140,566 (GRCm39)	missense	possibly damaging	0.93
R8427:Atp13a5	UTSW	16	29,167,820 (GRCm39)	missense	possibly damaging	0.65
R8435:Atp13a5	UTSW	16	29,099,747 (GRCm39)	critical splice donor site	probably null
R8830:Atp13a5	UTSW	16	29,066,928 (GRCm39)	missense	probably damaging	1.00
R8946:Atp13a5	UTSW	16	29,146,601 (GRCm39)	missense	probably damaging	0.99
R8950:Atp13a5	UTSW	16	29,197,314 (GRCm39)	missense	probably damaging	1.00
R9222:Atp13a5	UTSW	16	29,133,472 (GRCm39)	missense	probably damaging	1.00
R9454:Atp13a5	UTSW	16	29,133,338 (GRCm39)	missense	possibly damaging	0.55
R9756:Atp13a5	UTSW	16	29,051,583 (GRCm39)	frame shift	probably null
R9769:Atp13a5	UTSW	16	29,167,513 (GRCm39)	nonsense	probably null
R9797:Atp13a5	UTSW	16	29,133,491 (GRCm39)	missense	probably benign	0.00
X0023:Atp13a5	UTSW	16	29,129,600 (GRCm39)	missense	probably damaging	1.00
Z1088:Atp13a5	UTSW	16	29,100,880 (GRCm39)	missense	probably benign	0.06
Z1177:Atp13a5	UTSW	16	29,099,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGTAGGTTCCCATGTGG -3'
(R):5'- ACTGTCTGCATAGGAGTATTCTAGAG -3'

Sequencing Primer
(F):5'- GGTATTACAACCCGGTATCATTCCAG -3'
(R):5'- GTGGTGCACACTTATGATCCCAAG -3'

Posted On

2020-09-02