Mutagenetix > Incidental Mutation

Incidental Mutation 'R1596:Atp10b'

175818

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

MMRRC Submission

039633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43040704-43153112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43126594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1117 (K1117E)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077659]

AlphaFold

B1AWN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077659
AA Change: K1117E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: K1117E

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	47	118	3.8e-26	PFAM
Pfam:E1-E2_ATPase	123	393	2.9e-7	PFAM
low complexity region	621	638	N/A	INTRINSIC
Pfam:Cation_ATPase	692	799	7.1e-9	PFAM
Pfam:HAD	705	1062	6.7e-12	PFAM
Pfam:PhoLip_ATPase_C	1079	1324	1.9e-79	PFAM
low complexity region	1353	1366	N/A	INTRINSIC
low complexity region	1457	1471	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136288

Meta Mutation Damage Score

0.4959

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,426,018 (GRCm39)		probably benign	Het
Abca8a	T	A	11: 109,958,886 (GRCm39)	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,680,350 (GRCm39)	N316S	probably damaging	Het
Ackr2	T	C	9: 121,738,278 (GRCm39)	F218L	probably damaging	Het
Adam6b	T	A	12: 113,454,646 (GRCm39)	Y488N	probably damaging	Het
Arhgap10	A	G	8: 78,177,326 (GRCm39)	I103T	possibly damaging	Het
Atm	A	G	9: 53,364,678 (GRCm39)	V2669A	probably damaging	Het
Brinp3	T	C	1: 146,390,520 (GRCm39)	V22A	probably benign	Het
Casp8	G	T	1: 58,870,833 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,153,930 (GRCm39)	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,107,836 (GRCm39)	S193C	probably damaging	Het
Col11a1	C	T	3: 113,946,262 (GRCm39)		probably benign	Het
Csn1s2b	T	A	5: 87,966,917 (GRCm39)		probably benign	Het
Cst5	T	C	2: 149,247,329 (GRCm39)	V15A	unknown	Het
Cttnbp2	A	G	6: 18,408,591 (GRCm39)	F1010S	probably damaging	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,415,104 (GRCm39)	Y667C	probably damaging	Het
Ep400	A	T	5: 110,856,727 (GRCm39)		probably benign	Het
Fam83c	C	T	2: 155,672,982 (GRCm39)		probably null	Het
Fbxw20	C	T	9: 109,050,368 (GRCm39)	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,595,904 (GRCm39)	V521I	probably benign	Het
Frrs1	A	G	3: 116,676,848 (GRCm39)		probably benign	Het
Gli3	C	A	13: 15,900,056 (GRCm39)	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,095,482 (GRCm39)		probably null	Het
Ice1	C	T	13: 70,753,014 (GRCm39)	R1024H	possibly damaging	Het
Irak3	A	T	10: 120,018,451 (GRCm39)	I99N	probably damaging	Het
Klhl31	A	G	9: 77,557,356 (GRCm39)	D24G	probably damaging	Het
Lrba	C	T	3: 86,257,611 (GRCm39)	Q1292*	probably null	Het
Map1a	C	T	2: 121,120,246 (GRCm39)	A44V	probably benign	Het
Mbd2	T	A	18: 70,749,703 (GRCm39)	M306K	probably damaging	Het
Mrc1	C	T	2: 14,253,701 (GRCm39)	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,318,431 (GRCm39)	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Ncf4	G	A	15: 78,134,637 (GRCm39)	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,069,777 (GRCm39)	D559E	probably benign	Het
Nxpe4	T	A	9: 48,307,855 (GRCm39)	W320R	probably damaging	Het
Or10a3n	T	A	7: 108,493,086 (GRCm39)	H176L	probably damaging	Het
Or52n4b	T	A	7: 108,144,290 (GRCm39)	M184K	possibly damaging	Het
Or6z5	T	C	7: 6,477,514 (GRCm39)	L135P	probably damaging	Het
Pdzrn3	A	G	6: 101,127,966 (GRCm39)	V900A	probably benign	Het
Prcp	T	C	7: 92,567,042 (GRCm39)		probably benign	Het
Prkaa2	A	T	4: 104,893,526 (GRCm39)	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,443,600 (GRCm39)		probably benign	Het
Ptpra	T	A	2: 130,386,872 (GRCm39)	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,151,022 (GRCm39)	V129A	possibly damaging	Het
Reep1	G	T	6: 71,733,421 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,335,928 (GRCm39)		probably null	Het
Sapcd2	T	A	2: 25,266,422 (GRCm39)	I403N	probably damaging	Het
Sdk2	T	A	11: 113,729,435 (GRCm39)		probably benign	Het
Serpinb3a	T	C	1: 106,974,904 (GRCm39)	M210V	probably benign	Het
Slc45a3	T	A	1: 131,909,267 (GRCm39)	I488N	probably damaging	Het
Tnrc6c	C	T	11: 117,648,867 (GRCm39)	P1513S	probably damaging	Het
Trank1	T	A	9: 111,195,358 (GRCm39)	H1127Q	possibly damaging	Het
Trim67	T	C	8: 125,552,878 (GRCm39)	V660A	probably damaging	Het
Ubash3b	A	G	9: 40,942,793 (GRCm39)	I233T	probably benign	Het
Unkl	A	G	17: 25,424,707 (GRCm39)	R245G	probably null	Het

Other mutations in Atp10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Atp10b	APN	11	43,092,988 (GRCm39)	missense	probably damaging	1.00
IGL01385:Atp10b	APN	11	43,125,256 (GRCm39)	missense	probably damaging	1.00
IGL01524:Atp10b	APN	11	43,150,672 (GRCm39)	missense	probably benign	0.18
IGL01575:Atp10b	APN	11	43,063,548 (GRCm39)	missense	probably benign	0.00
IGL01588:Atp10b	APN	11	43,063,548 (GRCm39)	missense	probably benign	0.00
IGL01590:Atp10b	APN	11	43,063,548 (GRCm39)	missense	probably benign	0.00
IGL01832:Atp10b	APN	11	43,125,262 (GRCm39)	missense	probably damaging	0.98
IGL01927:Atp10b	APN	11	43,150,231 (GRCm39)	splice site	probably benign
IGL01933:Atp10b	APN	11	43,085,457 (GRCm39)	missense	probably damaging	1.00
IGL02182:Atp10b	APN	11	43,139,774 (GRCm39)	missense	probably damaging	1.00
IGL02215:Atp10b	APN	11	43,085,492 (GRCm39)	critical splice donor site	probably null
IGL02216:Atp10b	APN	11	43,150,616 (GRCm39)	missense	probably damaging	0.98
IGL02973:Atp10b	APN	11	43,088,336 (GRCm39)	missense	probably damaging	1.00
IGL03012:Atp10b	APN	11	43,085,482 (GRCm39)	missense	probably damaging	0.99
IGL03106:Atp10b	APN	11	43,138,304 (GRCm39)	missense	probably benign	0.32
IGL03123:Atp10b	APN	11	43,044,110 (GRCm39)	missense	probably benign	0.01
IGL03202:Atp10b	APN	11	43,125,268 (GRCm39)	critical splice donor site	probably null
IGL03339:Atp10b	APN	11	43,121,442 (GRCm39)	missense	probably null	0.71
R0053:Atp10b	UTSW	11	43,107,391 (GRCm39)	splice site	probably benign
R0053:Atp10b	UTSW	11	43,107,391 (GRCm39)	splice site	probably benign
R0098:Atp10b	UTSW	11	43,080,431 (GRCm39)	missense	probably benign	0.00
R0098:Atp10b	UTSW	11	43,080,431 (GRCm39)	missense	probably benign	0.00
R0281:Atp10b	UTSW	11	43,044,131 (GRCm39)	missense	probably benign	0.00
R0379:Atp10b	UTSW	11	43,145,141 (GRCm39)	missense	probably benign	0.05
R0380:Atp10b	UTSW	11	43,116,424 (GRCm39)	missense	probably damaging	1.00
R0470:Atp10b	UTSW	11	43,093,866 (GRCm39)	missense	possibly damaging	0.88
R1355:Atp10b	UTSW	11	43,042,482 (GRCm39)	nonsense	probably null
R1368:Atp10b	UTSW	11	43,092,981 (GRCm39)	missense	probably damaging	1.00
R1370:Atp10b	UTSW	11	43,042,482 (GRCm39)	nonsense	probably null
R1413:Atp10b	UTSW	11	43,121,391 (GRCm39)	missense	probably benign	0.00
R1502:Atp10b	UTSW	11	43,121,174 (GRCm39)	missense	probably damaging	1.00
R1530:Atp10b	UTSW	11	43,088,351 (GRCm39)	missense	probably benign	0.03
R1675:Atp10b	UTSW	11	43,116,475 (GRCm39)	missense	probably damaging	1.00
R1880:Atp10b	UTSW	11	43,150,259 (GRCm39)	missense	probably damaging	1.00
R1938:Atp10b	UTSW	11	43,121,245 (GRCm39)	missense	probably benign	0.00
R1986:Atp10b	UTSW	11	43,063,595 (GRCm39)	missense	probably benign	0.12
R2081:Atp10b	UTSW	11	43,092,955 (GRCm39)	missense	probably damaging	1.00
R2083:Atp10b	UTSW	11	43,103,250 (GRCm39)	missense	probably benign	0.24
R2159:Atp10b	UTSW	11	43,042,680 (GRCm39)	missense	possibly damaging	0.81
R2255:Atp10b	UTSW	11	43,125,207 (GRCm39)	missense	probably damaging	1.00
R2259:Atp10b	UTSW	11	43,080,440 (GRCm39)	missense	probably damaging	1.00
R2259:Atp10b	UTSW	11	43,063,572 (GRCm39)	missense	probably damaging	1.00
R3741:Atp10b	UTSW	11	43,126,489 (GRCm39)	missense	probably damaging	1.00
R3942:Atp10b	UTSW	11	43,063,581 (GRCm39)	missense	probably damaging	1.00
R3971:Atp10b	UTSW	11	43,107,339 (GRCm39)	missense	probably damaging	1.00
R4007:Atp10b	UTSW	11	43,150,679 (GRCm39)	missense	probably benign	0.04
R4050:Atp10b	UTSW	11	43,150,363 (GRCm39)	missense	probably benign	0.00
R4078:Atp10b	UTSW	11	43,044,110 (GRCm39)	missense	probably benign	0.01
R4567:Atp10b	UTSW	11	43,088,384 (GRCm39)	missense	probably benign	0.03
R4651:Atp10b	UTSW	11	43,085,472 (GRCm39)	missense	probably damaging	1.00
R4652:Atp10b	UTSW	11	43,085,472 (GRCm39)	missense	probably damaging	1.00
R4667:Atp10b	UTSW	11	43,138,345 (GRCm39)	missense	probably damaging	1.00
R4720:Atp10b	UTSW	11	43,093,949 (GRCm39)	missense	probably benign
R4987:Atp10b	UTSW	11	43,042,440 (GRCm39)	utr 5 prime	probably benign
R5232:Atp10b	UTSW	11	43,093,006 (GRCm39)	missense	probably damaging	1.00
R5233:Atp10b	UTSW	11	43,121,387 (GRCm39)	missense	probably benign	0.06
R5281:Atp10b	UTSW	11	43,145,163 (GRCm39)	missense	probably damaging	0.97
R5307:Atp10b	UTSW	11	43,103,302 (GRCm39)	missense	probably damaging	1.00
R5460:Atp10b	UTSW	11	43,121,282 (GRCm39)	missense	probably benign	0.00
R5518:Atp10b	UTSW	11	43,042,463 (GRCm39)	missense	possibly damaging	0.84
R5659:Atp10b	UTSW	11	43,136,252 (GRCm39)	missense	probably damaging	1.00
R5688:Atp10b	UTSW	11	43,092,000 (GRCm39)	missense	probably benign	0.00
R5735:Atp10b	UTSW	11	43,042,601 (GRCm39)	missense	probably benign	0.00
R6153:Atp10b	UTSW	11	43,145,109 (GRCm39)	missense	probably damaging	1.00
R6251:Atp10b	UTSW	11	43,126,573 (GRCm39)	missense	possibly damaging	0.95
R6259:Atp10b	UTSW	11	43,092,065 (GRCm39)	missense	probably benign	0.24
R6394:Atp10b	UTSW	11	43,116,464 (GRCm39)	missense	probably damaging	1.00
R6492:Atp10b	UTSW	11	43,109,784 (GRCm39)	missense	probably damaging	1.00
R6769:Atp10b	UTSW	11	43,094,079 (GRCm39)	critical splice donor site	probably null
R6771:Atp10b	UTSW	11	43,094,079 (GRCm39)	critical splice donor site	probably null
R6775:Atp10b	UTSW	11	43,113,040 (GRCm39)	missense	possibly damaging	0.80
R7134:Atp10b	UTSW	11	43,136,291 (GRCm39)	missense	probably damaging	1.00
R7322:Atp10b	UTSW	11	43,103,374 (GRCm39)	missense	probably damaging	1.00
R7367:Atp10b	UTSW	11	43,138,328 (GRCm39)	missense	probably damaging	1.00
R7538:Atp10b	UTSW	11	43,116,373 (GRCm39)	missense	probably benign	0.04
R7708:Atp10b	UTSW	11	43,092,970 (GRCm39)	missense	probably damaging	1.00
R7787:Atp10b	UTSW	11	43,150,700 (GRCm39)	missense	possibly damaging	0.91
R8145:Atp10b	UTSW	11	43,092,949 (GRCm39)	missense	probably damaging	1.00
R8406:Atp10b	UTSW	11	43,093,984 (GRCm39)	missense	probably benign	0.00
R8503:Atp10b	UTSW	11	43,113,066 (GRCm39)	missense	possibly damaging	0.92
R8542:Atp10b	UTSW	11	43,121,208 (GRCm39)	missense	probably benign	0.18
R8744:Atp10b	UTSW	11	43,121,177 (GRCm39)	missense	probably damaging	1.00
R8815:Atp10b	UTSW	11	43,093,978 (GRCm39)	missense	possibly damaging	0.63
R8833:Atp10b	UTSW	11	43,112,986 (GRCm39)	missense	probably damaging	1.00
R8880:Atp10b	UTSW	11	43,106,811 (GRCm39)	missense	probably benign
R8989:Atp10b	UTSW	11	43,136,269 (GRCm39)	nonsense	probably null
R8998:Atp10b	UTSW	11	43,150,726 (GRCm39)	makesense	probably null
R9255:Atp10b	UTSW	11	43,107,148 (GRCm39)	missense	probably damaging	1.00
R9281:Atp10b	UTSW	11	43,116,458 (GRCm39)	missense	probably benign	0.11
R9345:Atp10b	UTSW	11	43,094,024 (GRCm39)	missense	probably damaging	0.99
R9357:Atp10b	UTSW	11	43,150,711 (GRCm39)	missense	probably benign	0.18
R9393:Atp10b	UTSW	11	43,063,608 (GRCm39)	missense	probably damaging	1.00
R9516:Atp10b	UTSW	11	43,121,224 (GRCm39)	missense	probably benign	0.02
R9644:Atp10b	UTSW	11	43,042,659 (GRCm39)	missense	probably damaging	1.00
R9747:Atp10b	UTSW	11	43,088,339 (GRCm39)	missense	probably benign
Z1177:Atp10b	UTSW	11	43,044,176 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTGGAACCCAAAGAGCCACCTTCG -3'
(R):5'- TGTGCTGAGACAACATCACCCTCC -3'

Sequencing Primer
(F):5'- GCAATGTCTTCAAGAGAGCTTC -3'
(R):5'- AGGgaggaatctacggtctatg -3'

Posted On

2014-04-24