Mutagenetix > Incidental Mutation

Incidental Mutation 'R2159:Atp10b'

235060

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

MMRRC Submission

040162-MU

Accession Numbers

Essential gene?

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

Stock #

R2159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43040704-43153112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43042680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 80 (T80I)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077659
AA Change: T80I

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: T80I

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: ENSMUST00000137991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148911

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,241 (GRCm39)	P174S	probably benign	Het
Aida	C	T	1: 183,103,234 (GRCm39)	P185S	probably benign	Het
Alg11	T	G	8: 22,555,861 (GRCm39)	I374R	probably benign	Het
Ano9	T	C	7: 140,688,030 (GRCm39)	I229V	probably benign	Het
Apob	A	T	12: 8,060,081 (GRCm39)	L2821F	probably benign	Het
BC024139	T	C	15: 76,005,688 (GRCm39)	H478R	probably damaging	Het
Btbd1	A	T	7: 81,450,804 (GRCm39)	D325E	possibly damaging	Het
Camk2a	G	A	18: 61,090,257 (GRCm39)	C199Y	probably damaging	Het
Casp3	A	G	8: 47,087,323 (GRCm39)	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,702,891 (GRCm39)	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,486,667 (GRCm39)	R65*	probably null	Het
Cebpb	G	T	2: 167,531,173 (GRCm39)	A78S	probably benign	Het
Col5a3	A	G	9: 20,682,606 (GRCm39)	F1613L	unknown	Het
Cpd	T	C	11: 76,688,467 (GRCm39)	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,940,837 (GRCm39)	I174T	probably damaging	Het
Cyp21a1	C	A	17: 35,021,378 (GRCm39)	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,691 (GRCm39)	T795A	probably benign	Het
Eif2ak2	A	G	17: 79,181,447 (GRCm39)	V100A	possibly damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gp2	T	C	7: 119,051,507 (GRCm39)	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gzmd	T	A	14: 56,368,153 (GRCm39)	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,619,857 (GRCm39)	I139F	probably damaging	Het
Lcmt2	G	A	2: 120,969,766 (GRCm39)	P439L	probably damaging	Het
Loxl4	C	T	19: 42,588,446 (GRCm39)	A570T	probably damaging	Het
Mga	T	A	2: 119,750,124 (GRCm39)	H674Q	probably damaging	Het
Mybpc3	A	T	2: 90,955,715 (GRCm39)	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,249,633 (GRCm39)	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,011,266 (GRCm39)		probably null	Het
Or13e8	T	C	4: 43,697,110 (GRCm39)	H21R	probably benign	Het
Or4c3	A	T	2: 89,851,882 (GRCm39)	V176E	probably damaging	Het
Oxsr1	A	C	9: 119,133,880 (GRCm39)	D58E	possibly damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Phf10	C	T	17: 15,172,926 (GRCm39)	E304K	probably damaging	Het
Prmt5	T	C	14: 54,752,795 (GRCm39)	T139A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,623,865 (GRCm39)	T32A	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,507,752 (GRCm39)	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,005,225 (GRCm39)	D80G	probably damaging	Het
Sec24a	T	G	11: 51,603,177 (GRCm39)	H757P	probably damaging	Het
Sema4d	T	C	13: 51,874,571 (GRCm39)	N129D	probably damaging	Het
Serpini1	A	G	3: 75,531,251 (GRCm39)	T323A	probably benign	Het
Setd1a	G	A	7: 127,384,661 (GRCm39)	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,286,770 (GRCm39)	C226R	probably damaging	Het
Sp8	T	C	12: 118,812,441 (GRCm39)	S99P	possibly damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Stim2	T	C	5: 54,267,156 (GRCm39)	Y365H	probably damaging	Het
Stk36	A	G	1: 74,673,896 (GRCm39)	Q1263R	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,975,467 (GRCm39)	A184S	probably damaging	Het
Ttn	G	A	2: 76,729,671 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,689,363 (GRCm39)	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,239,340 (GRCm39)	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,950,169 (GRCm39)	E226V	probably benign	Het
Vmo1	A	G	11: 70,404,608 (GRCm39)	F131S	probably benign	Het
Vwf	T	C	6: 125,603,304 (GRCm39)	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,807,476 (GRCm39)	M618L	probably benign	Het
Wdr90	T	C	17: 26,070,715 (GRCm39)	E1072G	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
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
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
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'- CAAGATGGCTTCTCCCAATCTC -3'
(R):5'- GGGCAAACAATGAGTTCAGTCTC -3'

Sequencing Primer
(F):5'- ATGGCTTCTCCCAATCTCCATCAG -3'
(R):5'- TGTTTACTACGCAAACACATGATG -3'

Posted On

2014-10-01