Mutagenetix > Incidental Mutation

Incidental Mutation 'R1368:Atp10b'

155887

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

MMRRC Submission

039433-MU

Accession Numbers

Essential gene?

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

Stock #

R1368 (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 43092981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 439 (T439A)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077659
AA Change: T439A

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

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: T439A

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: ENSMUST00000137991

Meta Mutation Damage Score

0.6288

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,836 (GRCm39)	D1233G	probably benign	Het
Abcc8	G	A	7: 45,772,284 (GRCm39)	R832W	probably damaging	Het
Brd10	C	A	19: 29,693,796 (GRCm39)	S1966I	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,953 (GRCm39)	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,288,200 (GRCm39)	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,568 (GRCm39)		probably benign	Het
Cep290	C	T	10: 100,330,828 (GRCm39)		probably benign	Het
Chrng	T	A	1: 87,133,575 (GRCm39)	L10H	probably damaging	Het
Cnn3	T	C	3: 121,250,786 (GRCm39)	L189S	probably benign	Het
Cog4	A	G	8: 111,585,157 (GRCm39)		probably benign	Het
Cxcl12	A	G	6: 117,153,111 (GRCm39)		probably benign	Het
Eif2b2	G	A	12: 85,270,230 (GRCm39)	A257T	probably damaging	Het
Entrep2	A	T	7: 64,469,625 (GRCm39)	V41E	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,858,903 (GRCm39)	Q2341R	possibly damaging	Het
Fktn	G	A	4: 53,734,880 (GRCm39)	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464 (GRCm39)	N841S	probably benign	Het
Gm5622	T	A	14: 51,899,647 (GRCm39)	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,355,651 (GRCm39)	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,307,439 (GRCm39)	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,395,263 (GRCm39)	T74I	probably benign	Het
Ikzf2	G	A	1: 69,578,474 (GRCm39)	A271V	possibly damaging	Het
Lig4	T	C	8: 10,021,176 (GRCm39)	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,747,764 (GRCm39)	E367G	possibly damaging	Het
Mpz	T	C	1: 170,987,533 (GRCm39)	L223P	probably damaging	Het
Muc17	T	C	5: 137,175,674 (GRCm39)		probably benign	Het
Or2f1b	C	A	6: 42,739,613 (GRCm39)	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,746,846 (GRCm39)	N104K	probably damaging	Het
Pigg	G	T	5: 108,465,154 (GRCm39)	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,483,311 (GRCm39)	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Psg23	A	G	7: 18,348,645 (GRCm39)	V54A	probably benign	Het
Psmd3	A	G	11: 98,573,746 (GRCm39)	D64G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptgdr	T	A	14: 45,090,799 (GRCm39)	I320F	probably damaging	Het
Rad50	T	A	11: 53,574,072 (GRCm39)	K722*	probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rgs9	G	A	11: 109,138,977 (GRCm39)	S255L	probably benign	Het
Ror1	C	T	4: 100,298,334 (GRCm39)	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,497,147 (GRCm39)		probably null	Het
Scn8a	A	G	15: 100,933,422 (GRCm39)	D1501G	probably damaging	Het
Sema3c	A	G	5: 17,883,330 (GRCm39)	T313A	possibly damaging	Het
Serpinc1	T	A	1: 160,821,094 (GRCm39)	F59L	probably damaging	Het
Sike1	A	G	3: 102,903,500 (GRCm39)	D63G	possibly damaging	Het
Slc25a11	T	A	11: 70,536,352 (GRCm39)		probably null	Het
Slc32a1	A	G	2: 158,453,240 (GRCm39)	M27V	probably benign	Het
Smc5	A	G	19: 23,187,807 (GRCm39)	V1003A	probably damaging	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Topaz1	A	G	9: 122,577,315 (GRCm39)	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,054,783 (GRCm39)	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,035,358 (GRCm39)	I232T	probably benign	Het
Unc79	A	G	12: 103,122,772 (GRCm39)	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,381,656 (GRCm39)	F70L	probably benign	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
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
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'- TGAGCTGGTAAAACTTGGGCAAGTG -3'
(R):5'- CTCAGCCTGGCTTCATGACTGATAC -3'

Sequencing Primer
(F):5'- AAACTTGGGCAAGTGTTCCTC -3'
(R):5'- ctctctctctctctctctctctc -3'

Posted On

2014-02-11