Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:Atp10b'

451665

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

MMRRC Submission

043349-MU

Accession Numbers

Essential gene?

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

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43040704-43153112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43042601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 54 (M54L)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

probably benign
Transcript: ENSMUST00000077659
AA Change: M54L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: M54L

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: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,984,337 (GRCm39)	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,379,447 (GRCm39)		probably null	Het
Atg4b	G	T	1: 93,701,519 (GRCm39)	G71V	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Bnc2	A	C	4: 84,210,908 (GRCm39)	L487R	probably damaging	Het
Cacng7	T	C	7: 3,387,539 (GRCm39)	S141P	probably benign	Het
Carmil2	G	A	8: 106,424,663 (GRCm39)	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,386,560 (GRCm39)	I1907V	probably benign	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Cfap73	T	A	5: 120,770,671 (GRCm39)	Q33L	probably benign	Het
Cip2a	T	A	16: 48,837,856 (GRCm39)		probably null	Het
Cmtm2a	A	T	8: 105,019,418 (GRCm39)	I57N	probably damaging	Het
Col6a2	T	A	10: 76,435,727 (GRCm39)	D836V	probably benign	Het
Dnah2	A	G	11: 69,321,643 (GRCm39)	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,530,817 (GRCm39)	F546L	possibly damaging	Het
Eps8l2	A	G	7: 140,940,290 (GRCm39)	T507A	probably damaging	Het
Erg28	C	T	12: 85,862,926 (GRCm39)	E129K	probably benign	Het
Erlec1	A	T	11: 30,900,591 (GRCm39)	N153K	probably benign	Het
Fam234a	T	C	17: 26,432,679 (GRCm39)	E490G	probably damaging	Het
Fat4	C	T	3: 39,003,725 (GRCm39)	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,397,577 (GRCm39)	I226S	possibly damaging	Het
Ifnl2	T	A	7: 28,209,614 (GRCm39)	I58F	possibly damaging	Het
Itih5	A	G	2: 10,245,572 (GRCm39)	N554D	probably benign	Het
Kcna10	A	G	3: 107,102,394 (GRCm39)	I342V	probably benign	Het
Kif6	G	A	17: 50,139,210 (GRCm39)	E561K	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lpar2	G	T	8: 70,276,385 (GRCm39)	R58L	probably damaging	Het
Macrod2	A	G	2: 140,260,809 (GRCm39)	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,843,120 (GRCm39)	V387D	probably damaging	Het
Npas3	A	T	12: 54,050,262 (GRCm39)	T231S	probably benign	Het
Or4a70	A	T	2: 89,323,812 (GRCm39)	N281K	probably damaging	Het
Or52n5	A	T	7: 104,587,966 (GRCm39)	T78S	probably benign	Het
Or5aq1b	A	T	2: 86,901,756 (GRCm39)	C241S	probably damaging	Het
Or8h10	A	G	2: 86,809,044 (GRCm39)	V32A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde10a	A	T	17: 9,160,024 (GRCm39)	I432F	probably damaging	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Pomt1	G	A	2: 32,133,517 (GRCm39)	G218R	probably damaging	Het
Potefam1	A	T	2: 111,055,837 (GRCm39)	L183*	probably null	Het
Pramel22	A	T	4: 143,381,205 (GRCm39)	C273S	probably damaging	Het
Prdm5	C	T	6: 65,904,974 (GRCm39)	T157I	possibly damaging	Het
Psen2	T	A	1: 180,068,491 (GRCm39)	E54V	probably benign	Het
Ptpn13	C	A	5: 103,702,686 (GRCm39)	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,376,484 (GRCm39)	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,565,401 (GRCm39)	P23T	probably benign	Het
Rtn3	T	C	19: 7,434,057 (GRCm39)	E626G	probably damaging	Het
Scn3a	A	T	2: 65,312,622 (GRCm39)	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,314,803 (GRCm39)	N1086I	probably benign	Het
Sgms2	A	T	3: 131,129,866 (GRCm39)	M174K	probably damaging	Het
Skor1	T	A	9: 63,053,346 (GRCm39)	I180F	probably damaging	Het
Slit2	T	G	5: 48,416,958 (GRCm39)	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,104,462 (GRCm39)	Q560L	possibly damaging	Het
Themis	A	G	10: 28,598,530 (GRCm39)	I51V	probably benign	Het
Tmem203	T	C	2: 25,146,085 (GRCm39)	V135A	probably benign	Het
Tns1	T	C	1: 73,967,138 (GRCm39)	T1212A	probably benign	Het
Trgv5	T	G	13: 19,376,695 (GRCm39)	H47Q	probably benign	Het
Trim2	G	A	3: 84,075,029 (GRCm39)	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,186,677 (GRCm39)	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,600,716 (GRCm39)	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,464,066 (GRCm39)	S741R	probably damaging	Het
Vwce	C	A	19: 10,624,431 (GRCm39)	D414E	probably benign	Het
Zfp397	T	C	18: 24,093,249 (GRCm39)	S245P	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,579 (GRCm39)	H174Q	possibly damaging	Het
Zfp809	T	A	9: 22,150,227 (GRCm39)	Y241*	probably null	Het
Zfp995	C	T	17: 22,101,010 (GRCm39)	C29Y	probably benign	Het
Zfta	A	G	19: 7,400,161 (GRCm39)	E209G	probably benign	Het
Zfyve26	T	C	12: 79,320,147 (GRCm39)	D1066G	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
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
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'- TCCTGATCACAGCAACTTCCTG -3'
(R):5'- AGAGAACTGCATCATCTCAGC -3'

Sequencing Primer
(F):5'- CTATTGTCACCTGATCCCAGAAATG -3'
(R):5'- TCTCAGCAGCAATGCTAGG -3'

Posted On

2017-01-03