Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Atp13a4'

191415

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

9330174J19Rik, 4631413J11Rik

MMRRC Submission

039752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29395853-29544864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29408928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1037 (V1037E)

Ref Sequence

ENSEMBL: ENSMUSP00000060987 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057018
AA Change: V1037E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: V1037E

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

noncoding transcript
Transcript: ENSMUST00000182094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182357

Predicted Effect

probably benign
Transcript: ENSMUST00000182573

Predicted Effect

probably damaging
Transcript: ENSMUST00000182627
AA Change: V1056E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: V1056E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182676

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,609 (GRCm38)	F146L	probably damaging	Het
9330182L06Rik	T	G	5: 9,428,407 (GRCm38)	C424G	probably damaging	Het
Acot5	A	G	12: 84,075,881 (GRCm38)	D413G	probably benign	Het
Actr5	G	T	2: 158,636,137 (GRCm38)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,566,900 (GRCm38)	D426N	probably benign	Het
Adra1a	T	C	14: 66,638,278 (GRCm38)	L234P	probably damaging	Het
Akap9	G	T	5: 3,972,791 (GRCm38)	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,274,712 (GRCm38)	D36G	probably benign	Het
Apol8	A	G	15: 77,749,366 (GRCm38)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,452,435 (GRCm38)	D139V	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm38)	F284L	probably benign	Het
C1qtnf6	A	T	15: 78,527,440 (GRCm38)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,802,782 (GRCm38)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,427,734 (GRCm38)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,289,758 (GRCm38)	Y277C	probably damaging	Het
Cit	G	A	5: 115,967,897 (GRCm38)	D947N	probably damaging	Het
Clint1	T	A	11: 45,887,410 (GRCm38)	I126K	probably damaging	Het
Col6a4	C	T	9: 106,026,472 (GRCm38)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,238,071 (GRCm38)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,800,197 (GRCm38)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,693,828 (GRCm38)	F1460L	probably benign	Het
Edc3	T	C	9: 57,748,179 (GRCm38)		probably null	Het
Edn1	A	G	13: 42,305,350 (GRCm38)	E163G	probably benign	Het
Efl1	A	T	7: 82,683,721 (GRCm38)	D317V	possibly damaging	Het
F2	A	T	2: 91,628,830 (GRCm38)	Y430*	probably null	Het
Faap100	C	T	11: 120,374,581 (GRCm38)	V490M	probably damaging	Het
Fuz	G	T	7: 44,896,991 (GRCm38)	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848 (GRCm38)	H1616Q	probably benign	Het
Grm1	G	T	10: 10,746,794 (GRCm38)		probably null	Het
Gucy2d	G	T	7: 98,477,230 (GRCm38)	A1098S	probably benign	Het
H1f0	T	A	15: 79,028,995 (GRCm38)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,813,876 (GRCm38)		probably benign	Het
Heg1	G	A	16: 33,707,179 (GRCm38)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,781,617 (GRCm38)	K578*	probably null	Het
Ikbke	A	G	1: 131,259,210 (GRCm38)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,820,166 (GRCm38)	F185L	probably damaging	Het
Itgal	T	A	7: 127,306,927 (GRCm38)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm38)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,299,184 (GRCm38)	N3709D	probably benign	Het
Lipf	A	T	19: 33,965,666 (GRCm38)	K125*	probably null	Het
Lrif1	A	T	3: 106,733,136 (GRCm38)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,274 (GRCm38)	Y142*	probably null	Het
Med13l	A	G	5: 118,741,995 (GRCm38)	T1051A	probably damaging	Het
Mpp3	T	A	11: 102,025,756 (GRCm38)	M1L	possibly damaging	Het
Mro	C	T	18: 73,876,735 (GRCm38)	S159L	probably benign	Het
Myh15	T	A	16: 49,092,782 (GRCm38)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,512,490 (GRCm38)	Q547R	probably benign	Het
Neb	T	C	2: 52,207,721 (GRCm38)	I902M	probably benign	Het
Nsd1	G	A	13: 55,246,898 (GRCm38)	D771N	probably damaging	Het
Olfr1507	A	C	14: 52,490,594 (GRCm38)	Y40*	probably null	Het
Olfr248	A	G	1: 174,391,920 (GRCm38)	I284V	probably benign	Het
Olfr294	T	C	7: 86,616,456 (GRCm38)	N63S	probably damaging	Het
Olfr434	T	C	6: 43,217,560 (GRCm38)	S216P	probably damaging	Het
Olfr912	C	T	9: 38,581,289 (GRCm38)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm38)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,540,200 (GRCm38)	S144L	probably benign	Het
Ptprq	T	A	10: 107,686,294 (GRCm38)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,628,769 (GRCm38)	C304*	probably null	Het
Rbp3	T	C	14: 33,956,909 (GRCm38)	V938A	probably benign	Het
Rpp30	A	G	19: 36,094,427 (GRCm38)	K132E	probably damaging	Het
Rxfp2	A	T	5: 150,043,099 (GRCm38)	R101*	probably null	Het
Ryr1	A	T	7: 29,101,870 (GRCm38)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,182,093 (GRCm38)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,902,258 (GRCm38)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,946,614 (GRCm38)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,413,981 (GRCm38)	T185S	probably null	Het
Slc23a1	A	C	18: 35,625,851 (GRCm38)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,189,269 (GRCm38)		probably null	Het
Suco	A	T	1: 161,834,054 (GRCm38)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,825,299 (GRCm38)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,144,754 (GRCm38)		probably null	Het
Ttn	T	C	2: 76,730,070 (GRCm38)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm38)	I101V	probably benign	Het
Ube2o	A	T	11: 116,544,607 (GRCm38)	C452S	probably benign	Het
Uhrf1bp1l	T	C	10: 89,782,586 (GRCm38)	V141A	probably damaging	Het
Uxs1	A	T	1: 43,764,921 (GRCm38)	I278N	probably damaging	Het
Vps54	T	C	11: 21,306,519 (GRCm38)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 101,926,525 (GRCm38)		probably null	Het
Zc3h11a	A	G	1: 133,621,701 (GRCm38)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,303,277 (GRCm38)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,878,951 (GRCm38)	N68S	probably damaging	Het
Znfx1	A	T	2: 167,044,066 (GRCm38)	L858*	probably null	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
R1759:Atp13a4	UTSW	16	29,456,611 (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'- AGCCAAGAGTGTCCACAATGCTG -3'
(R):5'- TGTCTGCCCTGTGAGGAATGAGAG -3'

Sequencing Primer
(F):5'- tgtgctgtgctgtgctg -3'
(R):5'- AATGAGAGCGCCTCAGC -3'

Posted On

2014-05-14