Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03202:Atp10b'

413038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

9030605H24Rik, 5930426O13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03202

Quality Score

Status

Chromosome

Chromosomal Location

43040704-43153112 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 43125268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

probably null
Transcript: ENSMUST00000077659

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415

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

probably null
Transcript: ENSMUST00000077659

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,909,911 (GRCm39)	M1T	probably null	Het
Ace	T	A	11: 105,867,788 (GRCm39)	I168N	probably damaging	Het
Actr10	T	G	12: 70,987,605 (GRCm39)	C37W	probably damaging	Het
Bend5	A	G	4: 111,290,441 (GRCm39)	N146D	possibly damaging	Het
Cacna1b	A	G	2: 24,541,124 (GRCm39)	F1347L	probably damaging	Het
Crybg3	T	A	16: 59,315,072 (GRCm39)	I2910F	probably damaging	Het
Cspg4	T	C	9: 56,805,023 (GRCm39)	S1945P	possibly damaging	Het
Cxcr4	T	G	1: 128,516,641 (GRCm39)	K340T	probably damaging	Het
Dnah6	T	A	6: 73,121,683 (GRCm39)	Y1433F	probably damaging	Het
Eif2ak4	T	C	2: 118,231,101 (GRCm39)	V77A	probably damaging	Het
Fscn3	A	T	6: 28,434,451 (GRCm39)	H342L	probably benign	Het
Gm9843	T	C	16: 76,200,234 (GRCm39)		noncoding transcript	Het
Hdac9	T	C	12: 34,423,950 (GRCm39)	E520G	probably damaging	Het
Itm2b	G	A	14: 73,603,229 (GRCm39)	P120L	probably damaging	Het
Itpa	T	A	2: 130,509,859 (GRCm39)		probably benign	Het
Lce1l	A	T	3: 92,757,631 (GRCm39)	C76S	unknown	Het
Lin54	A	G	5: 100,623,673 (GRCm39)	S55P	possibly damaging	Het
Lrrc37	T	A	11: 103,506,199 (GRCm39)	E1923V	probably benign	Het
Mtfmt	C	A	9: 65,356,008 (GRCm39)	P303Q	probably damaging	Het
Nae1	A	T	8: 105,244,811 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,983,011 (GRCm39)		probably benign	Het
Or13a19	A	G	7: 139,903,019 (GRCm39)	M136V	possibly damaging	Het
Or1e22	G	A	11: 73,377,351 (GRCm39)	Q100*	probably null	Het
Pcnx2	A	C	8: 126,498,783 (GRCm39)	I1572S	probably damaging	Het
Piezo2	A	T	18: 63,144,669 (GRCm39)	Y2809N	probably damaging	Het
Pygl	G	T	12: 70,246,420 (GRCm39)	Q376K	probably benign	Het
Resf1	G	A	6: 149,227,937 (GRCm39)	V328I	probably benign	Het
Rrp12	T	C	19: 41,857,205 (GRCm39)		probably null	Het
Sephs1	A	T	2: 4,894,074 (GRCm39)	I92F	possibly damaging	Het
Taar4	T	C	10: 23,836,692 (GRCm39)	F101L	probably damaging	Het
Tenm2	A	G	11: 35,915,375 (GRCm39)	I2053T	probably damaging	Het
Tgfbr3	T	G	5: 107,257,630 (GRCm39)		probably benign	Het
Vmn2r108	A	T	17: 20,691,319 (GRCm39)	Y401*	probably null	Het
Vmn2r87	A	G	10: 130,333,091 (GRCm39)	M53T	probably benign	Het
Zfp941	A	G	7: 140,392,966 (GRCm39)	V131A	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
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
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

Posted On

2016-08-02