Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Atp13a4'

195232

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29456611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 352 (T352S)

Ref Sequence

ENSEMBL: ENSMUSP00000060987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039090] [ENSMUST00000057018] [ENSMUST00000182013] [ENSMUST00000182627]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039090
AA Change: T352S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: T352S

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	143	8.4e-31	PFAM
Cation_ATPase_N	147	223	1.09e-1	SMART
Pfam:E1-E2_ATPase	229	476	1.7e-36	PFAM
Pfam:Hydrolase	481	769	3.9e-11	PFAM
Pfam:HAD	484	787	4.1e-14	PFAM
Pfam:Hydrolase_like2	574	637	1.2e-9	PFAM
transmembrane domain	824	846	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057018
AA Change: T352S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: T352S

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	9.6e-34	PFAM
Cation_ATPase_N	147	223	1.09e-1	SMART
Pfam:E1-E2_ATPase	228	476	1.6e-34	PFAM
Pfam:Hydrolase	481	767	1.1e-10	PFAM
Pfam:HAD	484	858	3.3e-23	PFAM
Pfam:Cation_ATPase	573	637	4.9e-8	PFAM
transmembrane domain	902	924	N/A	INTRINSIC
transmembrane domain	934	951	N/A	INTRINSIC
transmembrane domain	972	994	N/A	INTRINSIC
low complexity region	1014	1023	N/A	INTRINSIC
transmembrane domain	1040	1057	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182013

SMART Domains

Protein: ENSMUSP00000138583
Gene: ENSMUSG00000038094

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	84	4.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182573

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182627
AA Change: T352S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: T352S

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	143	2.1e-29	PFAM
Cation_ATPase_N	147	223	1.09e-1	SMART
Pfam:E1-E2_ATPase	229	476	3.9e-35	PFAM
Pfam:Hydrolase	481	861	4.2e-16	PFAM
Pfam:HAD	484	858	1.9e-23	PFAM
Pfam:Hydrolase_like2	574	637	2.2e-8	PFAM
transmembrane domain	902	924	N/A	INTRINSIC
transmembrane domain	934	951	N/A	INTRINSIC
transmembrane domain	972	994	N/A	INTRINSIC
low complexity region	1014	1023	N/A	INTRINSIC
transmembrane domain	1040	1057	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1126	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,218,276 (GRCm38)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,293,848 (GRCm38)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,419,703 (GRCm38)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,170,646 (GRCm38)		probably null	Het
Ap1g1	G	A	8: 109,833,221 (GRCm38)	G260E	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Ccdc33	T	A	9: 58,117,446 (GRCm38)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,016,611 (GRCm38)	D159E	probably damaging	Het
Chd1	T	A	17: 17,387,271 (GRCm38)	D360E	probably benign	Het
Col16a1	G	T	4: 130,084,269 (GRCm38)	G781V	probably damaging	Het
Col6a5	T	A	9: 105,930,846 (GRCm38)	E1001V	unknown	Het
Cracdl	A	T	1: 37,625,710 (GRCm38)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,098,250 (GRCm38)	M246R	probably benign	Het
Dcn	T	C	10: 97,513,655 (GRCm38)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,276,149 (GRCm38)	N338D	probably benign	Het
Entpd1	G	T	19: 40,612,524 (GRCm38)		probably null	Het
Epb41l1	A	G	2: 156,521,974 (GRCm38)	D801G	probably benign	Het
Fam186a	T	A	15: 99,966,881 (GRCm38)	K23*	probably null	Het
Gbe1	T	C	16: 70,488,041 (GRCm38)	M417T	probably benign	Het
Gmnc	T	A	16: 26,965,747 (GRCm38)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,948,221 (GRCm38)	S35P	probably damaging	Het
Grid1	T	C	14: 35,446,031 (GRCm38)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,635,245 (GRCm38)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,083 (GRCm38)	I308N	probably damaging	Het
Inpp4b	A	G	8: 81,768,103 (GRCm38)	D49G	probably benign	Het
Ipmk	C	A	10: 71,381,303 (GRCm38)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,360,950 (GRCm38)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,801,888 (GRCm38)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,393,052 (GRCm38)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,147,699 (GRCm38)		probably null	Het
Kiss1r	T	C	10: 79,921,778 (GRCm38)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,707,871 (GRCm38)	C56*	probably null	Het
Lrpprc	T	C	17: 84,740,081 (GRCm38)	K908E	probably damaging	Het
Mak	C	A	13: 41,056,634 (GRCm38)	W42L	probably damaging	Het
Map3k21	A	G	8: 125,944,780 (GRCm38)	T936A	probably benign	Het
Marchf7	C	T	2: 60,234,544 (GRCm38)	S388F	probably damaging	Het
Matcap1	A	T	8: 105,285,550 (GRCm38)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,185,527 (GRCm38)	I292F	probably benign	Het
Myh3	C	A	11: 67,096,891 (GRCm38)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,181,993 (GRCm38)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,826,613 (GRCm38)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,559,543 (GRCm38)	T43A	probably damaging	Het
Nip7	A	G	8: 107,058,135 (GRCm38)	N124S	probably benign	Het
Or3a1	G	A	11: 74,334,982 (GRCm38)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,452,149 (GRCm38)	S271P	probably benign	Het
Or6c75	T	A	10: 129,500,906 (GRCm38)	S7R	probably benign	Het
Or7g25	C	T	9: 19,249,088 (GRCm38)	V104I	probably benign	Het
Or8b55	T	C	9: 38,815,898 (GRCm38)	Y132H	probably damaging	Het
Otoa	T	C	7: 121,134,103 (GRCm38)	L731P	probably damaging	Het
Pcnx2	G	A	8: 125,773,978 (GRCm38)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,429,860 (GRCm38)	T492A	probably damaging	Het
Pgm2	A	G	4: 99,967,108 (GRCm38)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,072,761 (GRCm38)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,348,763 (GRCm38)	A195T	probably damaging	Het
Ppib	C	T	9: 66,061,482 (GRCm38)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,350,586 (GRCm38)	T13K	probably benign	Het
Psmg2	A	T	18: 67,648,176 (GRCm38)	S113C	probably benign	Het
Rapgef2	A	G	3: 79,066,731 (GRCm38)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm38)	R465S	probably damaging	Het
Reln	A	G	5: 22,010,289 (GRCm38)	Y1055H	probably damaging	Het
Ros1	A	T	10: 52,120,826 (GRCm38)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm38)	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765 (GRCm38)	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,705,904 (GRCm38)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,418,098 (GRCm38)	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,065,585 (GRCm38)	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,608,997 (GRCm38)		probably null	Het
Smg7	G	T	1: 152,848,846 (GRCm38)	T536K	probably benign	Het
Smyd4	A	G	11: 75,382,366 (GRCm38)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Sorbs2	A	T	8: 45,763,019 (GRCm38)	*50C	probably null	Het
Speg	A	T	1: 75,401,162 (GRCm38)	M855L	possibly damaging	Het
Srrt	G	T	5: 137,302,950 (GRCm38)	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,846,493 (GRCm38)	S146P	probably damaging	Het
Syne1	T	A	10: 5,349,369 (GRCm38)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,516,003 (GRCm38)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,822,402 (GRCm38)	M135I	probably benign	Het
Tpr	A	T	1: 150,429,524 (GRCm38)	E1521D	probably benign	Het
Uba3	C	T	6: 97,196,904 (GRCm38)	G107R	probably damaging	Het
Unc45b	G	T	11: 82,929,499 (GRCm38)	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,234,312 (GRCm38)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,694,493 (GRCm38)	N773K	probably damaging	Het
Vps13d	A	T	4: 145,155,857 (GRCm38)	D1055E	probably benign	Het
Wfs1	G	C	5: 36,967,015 (GRCm38)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,859,478 (GRCm38)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,775,978 (GRCm38)	A145S	probably damaging	Het
Zfp971	A	T	2: 178,033,929 (GRCm38)	E440D	probably damaging	Het

Other mutations in Atp13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Atp13a4	APN	16	29,403,778 (GRCm38)	splice site	probably benign
IGL01577:Atp13a4	APN	16	29,441,284 (GRCm38)	missense	possibly damaging	0.77
IGL01834:Atp13a4	APN	16	29,415,777 (GRCm38)	splice site	probably benign
IGL02165:Atp13a4	APN	16	29,434,010 (GRCm38)	missense	probably damaging	1.00
IGL02194:Atp13a4	APN	16	29,456,629 (GRCm38)	missense	probably damaging	1.00
IGL02322:Atp13a4	APN	16	29,440,102 (GRCm38)	missense	probably benign	0.00
IGL02553:Atp13a4	APN	16	29,422,703 (GRCm38)	missense	probably benign	0.03
IGL02821:Atp13a4	APN	16	29,441,307 (GRCm38)	missense	probably benign	0.01
IGL03349:Atp13a4	APN	16	29,456,671 (GRCm38)	missense	probably benign	0.01
G5030:Atp13a4	UTSW	16	29,455,488 (GRCm38)	missense	probably damaging	1.00
R0091:Atp13a4	UTSW	16	29,455,395 (GRCm38)	missense	probably damaging	1.00
R0100:Atp13a4	UTSW	16	29,421,724 (GRCm38)	missense	probably damaging	1.00
R0278:Atp13a4	UTSW	16	29,454,834 (GRCm38)	missense	probably damaging	1.00
R1263:Atp13a4	UTSW	16	29,471,953 (GRCm38)	missense	possibly damaging	0.60
R1378:Atp13a4	UTSW	16	29,420,428 (GRCm38)	missense	probably damaging	1.00
R1575:Atp13a4	UTSW	16	29,409,710 (GRCm38)	missense	probably benign	0.01
R1720:Atp13a4	UTSW	16	29,408,928 (GRCm38)	missense	probably damaging	0.99
R1967:Atp13a4	UTSW	16	29,479,854 (GRCm38)	missense	probably damaging	0.99
R2030:Atp13a4	UTSW	16	29,422,684 (GRCm38)	missense	probably damaging	1.00
R2113:Atp13a4	UTSW	16	29,441,284 (GRCm38)	missense	possibly damaging	0.77
R3409:Atp13a4	UTSW	16	29,413,749 (GRCm38)	missense	probably damaging	1.00
R3410:Atp13a4	UTSW	16	29,413,749 (GRCm38)	missense	probably damaging	1.00
R4032:Atp13a4	UTSW	16	29,418,571 (GRCm38)	missense	probably damaging	1.00
R4163:Atp13a4	UTSW	16	29,541,250 (GRCm38)	missense	possibly damaging	0.87
R4652:Atp13a4	UTSW	16	29,452,603 (GRCm38)	missense	probably damaging	1.00
R4772:Atp13a4	UTSW	16	29,420,835 (GRCm38)	intron	probably benign
R4795:Atp13a4	UTSW	16	29,490,008 (GRCm38)	critical splice donor site	probably null
R4898:Atp13a4	UTSW	16	29,408,961 (GRCm38)	nonsense	probably null
R4996:Atp13a4	UTSW	16	29,472,004 (GRCm38)	missense	probably damaging	1.00
R5112:Atp13a4	UTSW	16	29,409,868 (GRCm38)	missense	possibly damaging	0.87
R5259:Atp13a4	UTSW	16	29,456,610 (GRCm38)	missense	probably damaging	1.00
R5395:Atp13a4	UTSW	16	29,456,604 (GRCm38)	missense	possibly damaging	0.94
R5395:Atp13a4	UTSW	16	29,420,888 (GRCm38)	nonsense	probably null
R5640:Atp13a4	UTSW	16	29,415,831 (GRCm38)	missense	probably damaging	0.98
R5809:Atp13a4	UTSW	16	29,433,987 (GRCm38)	missense	possibly damaging	0.56
R5856:Atp13a4	UTSW	16	29,433,987 (GRCm38)	missense	possibly damaging	0.94
R5912:Atp13a4	UTSW	16	29,456,571 (GRCm38)	missense	probably benign	0.33
R6282:Atp13a4	UTSW	16	29,434,004 (GRCm38)	missense	probably benign	0.00
R6404:Atp13a4	UTSW	16	29,471,901 (GRCm38)	nonsense	probably null
R6497:Atp13a4	UTSW	16	29,479,901 (GRCm38)	missense	probably damaging	1.00
R6577:Atp13a4	UTSW	16	29,479,841 (GRCm38)	missense	probably benign	0.03
R6806:Atp13a4	UTSW	16	29,469,280 (GRCm38)	missense	probably damaging	1.00
R7229:Atp13a4	UTSW	16	29,420,905 (GRCm38)	missense	probably benign	0.05
R7438:Atp13a4	UTSW	16	29,441,196 (GRCm38)	missense
R7493:Atp13a4	UTSW	16	29,471,956 (GRCm38)	missense
R7712:Atp13a4	UTSW	16	29,459,487 (GRCm38)	missense
R7739:Atp13a4	UTSW	16	29,456,601 (GRCm38)	missense
R7897:Atp13a4	UTSW	16	29,396,466 (GRCm38)	missense
R7950:Atp13a4	UTSW	16	29,449,917 (GRCm38)	missense
R8217:Atp13a4	UTSW	16	29,403,801 (GRCm38)	missense
R8227:Atp13a4	UTSW	16	29,403,845 (GRCm38)	missense
R8273:Atp13a4	UTSW	16	29,471,902 (GRCm38)	missense
R8488:Atp13a4	UTSW	16	29,417,836 (GRCm38)	missense	possibly damaging	0.63
R8508:Atp13a4	UTSW	16	29,454,769 (GRCm38)	nonsense	probably null
R8773:Atp13a4	UTSW	16	29,441,580 (GRCm38)	missense
R8921:Atp13a4	UTSW	16	29,454,774 (GRCm38)	missense
R8940:Atp13a4	UTSW	16	29,454,690 (GRCm38)	critical splice donor site	probably null
R9056:Atp13a4	UTSW	16	29,471,888 (GRCm38)	critical splice donor site	probably null
R9272:Atp13a4	UTSW	16	29,449,979 (GRCm38)	missense
R9292:Atp13a4	UTSW	16	29,422,682 (GRCm38)	missense
R9415:Atp13a4	UTSW	16	29,409,003 (GRCm38)	missense
R9453:Atp13a4	UTSW	16	29,420,841 (GRCm38)	missense	unknown
R9497:Atp13a4	UTSW	16	29,469,312 (GRCm38)	critical splice acceptor site	probably null
R9541:Atp13a4	UTSW	16	29,422,726 (GRCm38)	missense
R9614:Atp13a4	UTSW	16	29,441,580 (GRCm38)	missense
R9622:Atp13a4	UTSW	16	29,420,459 (GRCm38)	missense
R9727:Atp13a4	UTSW	16	29,409,771 (GRCm38)	missense
Z1176:Atp13a4	UTSW	16	29,422,587 (GRCm38)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTACTGAGATGCACAGGCCACCG -3'
(R):5'- ATTTGCACAGGAAAGGCACTCCAC -3'

Sequencing Primer
(F):5'- GGCCACCGTCAATCAGC -3'
(R):5'- TCCACCCCACAAAGTAAGATTG -3'

Posted On

2014-05-23