Mutagenetix > Incidental Mutation

Incidental Mutation 'R8488:Atp13a4'

657863

Institutional Source

Beutler Lab

Gene Symbol

Atp13a4

Ensembl Gene

ENSMUSG00000038094

Gene Name

ATPase type 13A4

Synonyms

4631413J11Rik, 9330174J19Rik

MMRRC Submission

067931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29214671-29363682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29236654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 868 (E868D)

Ref Sequence

ENSEMBL: ENSMUSP00000138479 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039090

SMART Domains

Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094

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

SMART Domains

Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: E849D

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: ENSMUST00000182168

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182627
AA Change: E868D

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: E868D

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	A	G	11: 120,238,517 (GRCm39)	V160A	possibly damaging	Het
Anapc5	A	G	5: 122,956,033 (GRCm39)	*96Q	probably null	Het
Ano2	A	G	6: 125,957,133 (GRCm39)	Y634C	probably damaging	Het
Appl2	T	C	10: 83,446,866 (GRCm39)	K406R	probably benign	Het
Arhgef15	T	A	11: 68,838,496 (GRCm39)		probably null	Het
BC005624	T	C	2: 30,871,857 (GRCm39)	K6E	possibly damaging	Het
Cd200l2	A	G	16: 45,348,834 (GRCm39)	Y113H	probably damaging	Het
Cenpe	T	A	3: 134,965,002 (GRCm39)	I2024N	probably damaging	Het
Clint1	T	G	11: 45,781,457 (GRCm39)	Y176D	probably damaging	Het
Crxos	T	C	7: 15,637,625 (GRCm39)	S65P	possibly damaging	Het
Cyp4f15	A	G	17: 32,920,948 (GRCm39)	T408A	probably benign	Het
Depdc1a	A	G	3: 159,229,512 (GRCm39)	M615V	probably damaging	Het
Dpysl2	T	C	14: 67,066,850 (GRCm39)	I194M	possibly damaging	Het
Dsg2	A	G	18: 20,734,431 (GRCm39)	Y803C	probably damaging	Het
Dtd2	A	G	12: 52,046,344 (GRCm39)	L165P	probably benign	Het
Gabrb2	A	T	11: 42,517,491 (GRCm39)	S438C	possibly damaging	Het
Gjb5	C	A	4: 127,250,078 (GRCm39)	R22L	probably damaging	Het
Gls	A	G	1: 52,239,012 (GRCm39)		probably null	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gstt2	T	A	10: 75,667,823 (GRCm39)	S211C	possibly damaging	Het
Hck	A	G	2: 152,966,130 (GRCm39)	K35E	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Igsf10	C	T	3: 59,227,431 (GRCm39)	G2081R	probably damaging	Het
Lrp1	C	T	10: 127,396,356 (GRCm39)	E2403K	probably damaging	Het
Or3a1	C	T	11: 74,225,932 (GRCm39)	V42I	probably benign	Het
Or6c3b	T	A	10: 129,527,343 (GRCm39)	D189V	probably damaging	Het
Phlpp2	A	T	8: 110,640,202 (GRCm39)	M456L	probably benign	Het
Pnp2	A	G	14: 51,201,836 (GRCm39)	E274G	possibly damaging	Het
Pold3	T	C	7: 99,738,938 (GRCm39)	Y303C	probably benign	Het
Prr5	C	T	15: 84,578,005 (GRCm39)	R96C	probably damaging	Het
Repin1	A	T	6: 48,570,952 (GRCm39)	D2V	probably damaging	Het
Sec23b	T	A	2: 144,423,983 (GRCm39)	V544E	probably damaging	Het
Slc6a17	A	G	3: 107,384,574 (GRCm39)	F342S	possibly damaging	Het
Slco4c1	T	C	1: 96,759,736 (GRCm39)	N532S	probably benign	Het
Slitrk3	T	G	3: 72,958,520 (GRCm39)	Y84S	probably benign	Het
Srcin1	T	C	11: 97,416,686 (GRCm39)		probably null	Het
Syne2	C	T	12: 76,012,546 (GRCm39)	A2580V	probably benign	Het
Tex48	C	T	4: 63,530,160 (GRCm39)	E20K	probably benign	Het
Trip13	A	T	13: 74,081,032 (GRCm39)	N111K	probably benign	Het
Ugcg	T	A	4: 59,213,896 (GRCm39)	N159K	probably benign	Het

Other mutations in Atp13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Atp13a4	APN	16	29,222,596 (GRCm39)	splice site	probably benign
IGL01577:Atp13a4	APN	16	29,260,102 (GRCm39)	missense	possibly damaging	0.77
IGL01834:Atp13a4	APN	16	29,234,595 (GRCm39)	splice site	probably benign
IGL02165:Atp13a4	APN	16	29,252,828 (GRCm39)	missense	probably damaging	1.00
IGL02194:Atp13a4	APN	16	29,275,447 (GRCm39)	missense	probably damaging	1.00
IGL02322:Atp13a4	APN	16	29,258,920 (GRCm39)	missense	probably benign	0.00
IGL02553:Atp13a4	APN	16	29,241,521 (GRCm39)	missense	probably benign	0.03
IGL02821:Atp13a4	APN	16	29,260,125 (GRCm39)	missense	probably benign	0.01
IGL03349:Atp13a4	APN	16	29,275,489 (GRCm39)	missense	probably benign	0.01
G5030:Atp13a4	UTSW	16	29,274,306 (GRCm39)	missense	probably damaging	1.00
R0091:Atp13a4	UTSW	16	29,274,213 (GRCm39)	missense	probably damaging	1.00
R0100:Atp13a4	UTSW	16	29,240,542 (GRCm39)	missense	probably damaging	1.00
R0278:Atp13a4	UTSW	16	29,273,652 (GRCm39)	missense	probably damaging	1.00
R1263:Atp13a4	UTSW	16	29,290,771 (GRCm39)	missense	possibly damaging	0.60
R1378:Atp13a4	UTSW	16	29,239,246 (GRCm39)	missense	probably damaging	1.00
R1575:Atp13a4	UTSW	16	29,228,528 (GRCm39)	missense	probably benign	0.01
R1720:Atp13a4	UTSW	16	29,227,746 (GRCm39)	missense	probably damaging	0.99
R1759:Atp13a4	UTSW	16	29,275,429 (GRCm39)	missense	probably damaging	0.99
R1967:Atp13a4	UTSW	16	29,298,672 (GRCm39)	missense	probably damaging	0.99
R2030:Atp13a4	UTSW	16	29,241,502 (GRCm39)	missense	probably damaging	1.00
R2113:Atp13a4	UTSW	16	29,260,102 (GRCm39)	missense	possibly damaging	0.77
R3409:Atp13a4	UTSW	16	29,232,567 (GRCm39)	missense	probably damaging	1.00
R3410:Atp13a4	UTSW	16	29,232,567 (GRCm39)	missense	probably damaging	1.00
R4032:Atp13a4	UTSW	16	29,237,389 (GRCm39)	missense	probably damaging	1.00
R4163:Atp13a4	UTSW	16	29,360,068 (GRCm39)	missense	possibly damaging	0.87
R4652:Atp13a4	UTSW	16	29,271,421 (GRCm39)	missense	probably damaging	1.00
R4772:Atp13a4	UTSW	16	29,239,653 (GRCm39)	intron	probably benign
R4795:Atp13a4	UTSW	16	29,308,826 (GRCm39)	critical splice donor site	probably null
R4898:Atp13a4	UTSW	16	29,227,779 (GRCm39)	nonsense	probably null
R4996:Atp13a4	UTSW	16	29,290,822 (GRCm39)	missense	probably damaging	1.00
R5112:Atp13a4	UTSW	16	29,228,686 (GRCm39)	missense	possibly damaging	0.87
R5259:Atp13a4	UTSW	16	29,275,428 (GRCm39)	missense	probably damaging	1.00
R5395:Atp13a4	UTSW	16	29,275,422 (GRCm39)	missense	possibly damaging	0.94
R5395:Atp13a4	UTSW	16	29,239,706 (GRCm39)	nonsense	probably null
R5640:Atp13a4	UTSW	16	29,234,649 (GRCm39)	missense	probably damaging	0.98
R5809:Atp13a4	UTSW	16	29,252,805 (GRCm39)	missense	possibly damaging	0.56
R5856:Atp13a4	UTSW	16	29,252,805 (GRCm39)	missense	possibly damaging	0.94
R5912:Atp13a4	UTSW	16	29,275,389 (GRCm39)	missense	probably benign	0.33
R6282:Atp13a4	UTSW	16	29,252,822 (GRCm39)	missense	probably benign	0.00
R6404:Atp13a4	UTSW	16	29,290,719 (GRCm39)	nonsense	probably null
R6497:Atp13a4	UTSW	16	29,298,719 (GRCm39)	missense	probably damaging	1.00
R6577:Atp13a4	UTSW	16	29,298,659 (GRCm39)	missense	probably benign	0.03
R6806:Atp13a4	UTSW	16	29,288,098 (GRCm39)	missense	probably damaging	1.00
R7229:Atp13a4	UTSW	16	29,239,723 (GRCm39)	missense	probably benign	0.05
R7438:Atp13a4	UTSW	16	29,260,014 (GRCm39)	missense
R7493:Atp13a4	UTSW	16	29,290,774 (GRCm39)	missense
R7712:Atp13a4	UTSW	16	29,278,305 (GRCm39)	missense
R7739:Atp13a4	UTSW	16	29,275,419 (GRCm39)	missense
R7897:Atp13a4	UTSW	16	29,215,284 (GRCm39)	missense
R7950:Atp13a4	UTSW	16	29,268,735 (GRCm39)	missense
R8217:Atp13a4	UTSW	16	29,222,619 (GRCm39)	missense
R8227:Atp13a4	UTSW	16	29,222,663 (GRCm39)	missense
R8273:Atp13a4	UTSW	16	29,290,720 (GRCm39)	missense
R8508:Atp13a4	UTSW	16	29,273,587 (GRCm39)	nonsense	probably null
R8773:Atp13a4	UTSW	16	29,260,398 (GRCm39)	missense
R8921:Atp13a4	UTSW	16	29,273,592 (GRCm39)	missense
R8940:Atp13a4	UTSW	16	29,273,508 (GRCm39)	critical splice donor site	probably null
R9056:Atp13a4	UTSW	16	29,290,706 (GRCm39)	critical splice donor site	probably null
R9272:Atp13a4	UTSW	16	29,268,797 (GRCm39)	missense
R9292:Atp13a4	UTSW	16	29,241,500 (GRCm39)	missense
R9415:Atp13a4	UTSW	16	29,227,821 (GRCm39)	missense
R9453:Atp13a4	UTSW	16	29,239,659 (GRCm39)	missense	unknown
R9497:Atp13a4	UTSW	16	29,288,130 (GRCm39)	critical splice acceptor site	probably null
R9541:Atp13a4	UTSW	16	29,241,544 (GRCm39)	missense
R9614:Atp13a4	UTSW	16	29,260,398 (GRCm39)	missense
R9622:Atp13a4	UTSW	16	29,239,277 (GRCm39)	missense
R9727:Atp13a4	UTSW	16	29,228,589 (GRCm39)	missense
Z1176:Atp13a4	UTSW	16	29,241,405 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTACAGAAAGCACCTTCTCTACAC -3'
(R):5'- TTCTGAAATGGCAGGCAGGG -3'

Sequencing Primer
(F):5'- AGCACCTTCTCTACACATAGCTC -3'
(R):5'- CAGGTTACCTTGTGGCCACTG -3'

Posted On

2021-01-18