Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Atp10b'

188009

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43040704-43153112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43116475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 941 (T941A)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077659
AA Change: T941A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: T941A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,302,570 (GRCm39)		probably null	Het
Adam6b	T	C	12: 113,454,664 (GRCm39)	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 26,972,497 (GRCm39)		probably null	Het
Anapc2	G	A	2: 25,162,651 (GRCm39)	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,802,211 (GRCm39)	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,638,518 (GRCm39)	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,707,141 (GRCm39)	S279P	probably benign	Het
Barhl1	C	T	2: 28,805,423 (GRCm39)	R90Q	possibly damaging	Het
Calr3	T	C	8: 73,185,302 (GRCm39)	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,870,566 (GRCm39)	D317G	probably damaging	Het
Cnn3	C	T	3: 121,250,818 (GRCm39)	Q19*	probably null	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp4x1	T	C	4: 114,984,757 (GRCm39)	E41G	possibly damaging	Het
Dagla	T	A	19: 10,246,687 (GRCm39)	M138L	probably benign	Het
Dnah6	A	T	6: 73,106,523 (GRCm39)	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,165,686 (GRCm39)	S88T	probably benign	Het
Eno3	T	C	11: 70,549,492 (GRCm39)		probably null	Het
Erbb3	C	A	10: 128,407,073 (GRCm39)	S1029I	probably damaging	Het
Erbin	C	A	13: 103,977,686 (GRCm39)	V624L	probably damaging	Het
Fam170b	C	T	14: 32,557,359 (GRCm39)	Q65*	probably null	Het
Gin1	T	A	1: 97,713,780 (GRCm39)	L360*	probably null	Het
Gldc	A	T	19: 30,120,853 (GRCm39)	D359E	probably damaging	Het
Gpr107	A	T	2: 31,057,063 (GRCm39)	T52S	possibly damaging	Het
Hip1r	A	G	5: 124,132,883 (GRCm39)	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,268,631 (GRCm39)	L1004P	probably damaging	Het
Hspa1l	A	G	17: 35,196,419 (GRCm39)	N153D	probably damaging	Het
Itga8	C	A	2: 12,204,974 (GRCm39)	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,462,547 (GRCm39)	A134V	probably benign	Het
Kif18a	T	A	2: 109,128,748 (GRCm39)	C406S	probably benign	Het
Klhl28	A	T	12: 64,998,593 (GRCm39)	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,687,451 (GRCm39)	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,372,281 (GRCm39)	T222A	probably benign	Het
Lipn	G	A	19: 34,058,110 (GRCm39)	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,787,800 (GRCm39)	E144K	probably damaging	Het
Mal	T	C	2: 127,476,964 (GRCm39)	Y77C	probably benign	Het
Map1a	T	A	2: 121,133,136 (GRCm39)	C1079*	probably null	Het
Mbd5	T	A	2: 49,146,230 (GRCm39)	S147T	possibly damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or1ad8	T	C	11: 50,898,464 (GRCm39)	F222L	probably benign	Het
Or5an1c	C	T	19: 12,218,195 (GRCm39)	V277I	probably benign	Het
Or6p1	T	C	1: 174,258,663 (GRCm39)	V223A	probably benign	Het
Rcor2	C	T	19: 7,247,546 (GRCm39)	L45F	probably damaging	Het
Rpl12	T	A	2: 32,853,537 (GRCm39)	D107E	probably benign	Het
Rpl7l1	A	T	17: 47,089,117 (GRCm39)	F205I	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Sema4a	A	T	3: 88,362,073 (GRCm39)	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,557,048 (GRCm39)	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,579,790 (GRCm39)	D781G	probably damaging	Het
Tasor2	T	C	13: 3,619,507 (GRCm39)	I2241M	possibly damaging	Het
Tprn	T	G	2: 25,154,421 (GRCm39)	D574E	probably benign	Het
Trim75	T	A	8: 65,435,163 (GRCm39)	E429V	probably damaging	Het
Trit1	C	T	4: 122,948,029 (GRCm39)	R450C	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,546,332 (GRCm39)		probably null	Het
Usp49	C	A	17: 47,984,335 (GRCm39)	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,408,937 (GRCm39)	C88R	probably benign	Het
Zfp94	T	A	7: 24,002,259 (GRCm39)	K394N	probably damaging	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
R1596:Atp10b	UTSW	11	43,126,594 (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'- GAGCCACTGGGATTGAAGATCGAC -3'
(R):5'- TGAGCAGGAGACTGAGCCTTTGTG -3'

Sequencing Primer
(F):5'- TGGGATTGAAGATCGACTCCAAG -3'
(R):5'- GAAGCTCAAACTCCCTGGTAAGTAG -3'

Posted On

2014-05-09