Mutagenetix > Incidental Mutation

Incidental Mutation 'R5518:Atp10b'

431413

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

MMRRC Submission

043077-MU

Accession Numbers

Essential gene?

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

Stock #

R5518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43040704-43153112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43042463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 8 (S8P)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077659
AA Change: S8P

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: S8P

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

Meta Mutation Damage Score

0.3618

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,769,873 (GRCm39)	E881K	probably benign	Het
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Abl1	T	A	2: 31,680,754 (GRCm39)	C349S	probably damaging	Het
Acot11	C	A	4: 106,607,207 (GRCm39)	V459L	probably benign	Het
Ank2	A	T	3: 126,753,348 (GRCm39)	V311D	probably damaging	Het
Ankrd11	C	G	8: 123,617,733 (GRCm39)	E2040Q	possibly damaging	Het
Ankrd26	T	C	6: 118,525,869 (GRCm39)	I359V	probably benign	Het
Armc3	T	G	2: 19,302,739 (GRCm39)	L684V	probably benign	Het
Asb10	G	A	5: 24,744,643 (GRCm39)	P184S	probably damaging	Het
Blk	G	T	14: 63,615,956 (GRCm39)	S324R	possibly damaging	Het
C4b	G	C	17: 34,953,416 (GRCm39)	N1022K	probably benign	Het
Card6	G	T	15: 5,134,696 (GRCm39)	T169K	probably damaging	Het
Catsper2	T	C	2: 121,236,844 (GRCm39)	T268A	possibly damaging	Het
Cbx3	C	T	6: 51,458,726 (GRCm39)	P64S	probably benign	Het
Chchd6	A	G	6: 89,544,567 (GRCm39)		probably null	Het
Cntn1	G	A	15: 92,212,534 (GRCm39)	E899K	probably benign	Het
Col6a4	A	T	9: 105,949,387 (GRCm39)	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779 (GRCm39)	N84T	probably benign	Het
Dcxr	A	C	11: 120,617,025 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,242,818 (GRCm39)	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,313,596 (GRCm39)	C221F	probably damaging	Het
Exoc3l	T	C	8: 106,019,795 (GRCm39)	N353D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
G3bp2	T	A	5: 92,216,347 (GRCm39)	H63L	probably benign	Het
Galnt17	A	G	5: 130,929,428 (GRCm39)	Y460H	probably damaging	Het
Gm6003	T	A	7: 32,865,004 (GRCm39)		noncoding transcript	Het
Ighv5-12-4	A	G	12: 113,726,154 (GRCm39)	L23P	probably damaging	Het
Ins1	T	C	19: 52,253,177 (GRCm39)	L39P	probably damaging	Het
Itpr3	T	G	17: 27,306,566 (GRCm39)	V210G	probably damaging	Het
Klrb1	T	A	6: 128,683,488 (GRCm39)	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,408,596 (GRCm39)	F177I	probably damaging	Het
Lrrc37	A	T	11: 103,506,079 (GRCm39)	I1963K	probably benign	Het
Mcat	A	G	15: 83,431,875 (GRCm39)		probably null	Het
Mknk2	A	T	10: 80,504,475 (GRCm39)	C229S	possibly damaging	Het
Mta2	C	A	19: 8,925,456 (GRCm39)	Q362K	probably benign	Het
Ndst4	T	C	3: 125,232,105 (GRCm39)	Y225H	probably benign	Het
Or4d11	T	C	19: 12,013,429 (GRCm39)	R226G	probably damaging	Het
Pcdha1	A	G	18: 37,065,415 (GRCm39)	D693G	probably benign	Het
Pik3r5	G	A	11: 68,368,294 (GRCm39)	D100N	possibly damaging	Het
Pld3	T	C	7: 27,231,796 (GRCm39)	D465G	probably damaging	Het
Prkdc	T	C	16: 15,496,172 (GRCm39)	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,120,143 (GRCm39)	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,823,354 (GRCm39)	M475K	probably benign	Het
Rbak	A	G	5: 143,159,064 (GRCm39)	L663P	probably damaging	Het
Rnf17	A	G	14: 56,719,590 (GRCm39)	N947D	probably damaging	Het
Ryr2	T	C	13: 11,702,795 (GRCm39)	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,917,087 (GRCm39)	L194R	probably damaging	Het
Smg6	T	C	11: 74,944,724 (GRCm39)	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,292,342 (GRCm39)	V269E	possibly damaging	Het
Snx14	G	T	9: 88,265,855 (GRCm39)	P760Q	probably damaging	Het
Sorl1	T	C	9: 41,948,508 (GRCm39)	E759G	possibly damaging	Het
Sspo	C	T	6: 48,473,588 (GRCm39)	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,991,944 (GRCm39)	F1970I	possibly damaging	Het
Tekt3	C	A	11: 62,974,768 (GRCm39)	H362Q	probably benign	Het
Tmem121	T	C	12: 113,152,547 (GRCm39)	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,802,534 (GRCm39)	T614A	probably benign	Het
Tnc	T	C	4: 63,935,916 (GRCm39)	D340G	probably damaging	Het
Ttc28	A	T	5: 111,373,794 (GRCm39)	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,952,238 (GRCm39)	D8G	probably benign	Het
Vwde	T	C	6: 13,186,937 (GRCm39)	N850S	probably benign	Het
Zfp280d	A	G	9: 72,231,417 (GRCm39)	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818 (GRCm39)	C595R	probably damaging	Het
Zfp768	A	G	7: 126,943,583 (GRCm39)	S182P	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
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
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'- TTAAAACAGATGCATCGCAGGAAC -3'
(R):5'- AGATGCTGTTGCCTGGGTAC -3'

Sequencing Primer
(F):5'- CAGATGCATCGCAGGAACTTTTTC -3'
(R):5'- GGTACCTCCTGCAGACCTTC -3'

Posted On

2016-10-05