Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01935:Atp8b5'

180642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01935

Quality Score

Status

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43366638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 801 (T801A)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107937] [ENSMUST00000107942]

AlphaFold

A3FIN4

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably benign
Transcript: ENSMUST00000107942
AA Change: T801A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: T801A

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	104	1.8e-26	PFAM
Pfam:E1-E2_ATPase	103	375	4.9e-9	PFAM
Pfam:HAD	413	847	2e-18	PFAM
Pfam:Cation_ATPase	495	594	1e-9	PFAM
Pfam:PhoLip_ATPase_C	864	1118	2.6e-77	PFAM
low complexity region	1171	1180	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,583,383 (GRCm39)		probably benign	Het
Akr1c12	A	T	13: 4,322,244 (GRCm39)	V266E	probably damaging	Het
Arhgef1	A	G	7: 24,621,307 (GRCm39)	T186A	probably damaging	Het
Card11	T	A	5: 140,869,301 (GRCm39)	I832F	possibly damaging	Het
Catsperg1	T	C	7: 28,895,296 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,906,889 (GRCm39)	T455A	possibly damaging	Het
Cfhr1	T	A	1: 139,478,740 (GRCm39)	Y210F	probably benign	Het
Chrna5	T	C	9: 54,912,127 (GRCm39)	V309A	probably benign	Het
Clstn2	A	G	9: 97,345,521 (GRCm39)	V609A	probably damaging	Het
Dnah6	T	C	6: 73,037,126 (GRCm39)	D3372G	probably benign	Het
Dtymk	T	C	1: 93,722,465 (GRCm39)	K113E	probably benign	Het
Eef2k	T	C	7: 120,485,054 (GRCm39)	F307S	probably damaging	Het
Flnc	T	A	6: 29,454,279 (GRCm39)	V1864E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Herc2	A	G	7: 55,803,541 (GRCm39)	Y2192C	probably benign	Het
Hkdc1	A	T	10: 62,236,165 (GRCm39)	V459E	probably damaging	Het
Iqsec3	T	C	6: 121,360,951 (GRCm39)	D969G	probably damaging	Het
Irf3	A	G	7: 44,650,194 (GRCm39)	T237A	probably benign	Het
Jade2	G	A	11: 51,719,211 (GRCm39)	T245I	possibly damaging	Het
Kctd8	A	G	5: 69,497,707 (GRCm39)	I313T	possibly damaging	Het
Kdm5a	T	A	6: 120,385,284 (GRCm39)	S835R	probably benign	Het
Lama2	A	C	10: 27,298,600 (GRCm39)	H165Q	probably damaging	Het
Lrp1b	T	A	2: 41,158,367 (GRCm39)	N1617Y	probably damaging	Het
Mcc	C	T	18: 44,652,583 (GRCm39)		probably null	Het
Mfsd14b	T	A	13: 65,215,739 (GRCm39)	M405L	probably benign	Het
Myom3	T	A	4: 135,515,692 (GRCm39)	F794I	probably damaging	Het
Napsa	G	T	7: 44,236,046 (GRCm39)	A362S	probably benign	Het
Ncf4	A	T	15: 78,140,186 (GRCm39)	D195V	probably damaging	Het
Or11g1	T	C	14: 50,651,012 (GRCm39)	F4L	probably benign	Het
Pank4	T	G	4: 155,063,987 (GRCm39)	D659E	probably damaging	Het
Pcnx1	T	A	12: 81,964,590 (GRCm39)	D252E	probably benign	Het
Pglyrp2	G	A	17: 32,637,551 (GRCm39)	A159V	probably benign	Het
Phaf1	T	C	8: 105,966,633 (GRCm39)	F127L	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,674 (GRCm39)	S627P	probably benign	Het
Ppp1r15b	T	C	1: 133,059,761 (GRCm39)	F93L	probably benign	Het
Pramel13	C	T	4: 144,119,172 (GRCm39)		probably benign	Het
Qrfpr	A	T	3: 36,235,200 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,064,467 (GRCm39)	T623K	probably benign	Het
Rapgef6	A	G	11: 54,501,668 (GRCm39)	T184A	possibly damaging	Het
Ssrp1	T	C	2: 84,877,056 (GRCm39)	*709Q	probably null	Het
St7	T	G	6: 17,930,822 (GRCm39)	I442S	probably damaging	Het
Syne2	T	A	12: 75,972,087 (GRCm39)	H992Q	probably damaging	Het
Syt14	T	C	1: 192,615,679 (GRCm39)	R436G	probably damaging	Het
Tbc1d5	A	G	17: 51,270,793 (GRCm39)		probably benign	Het
Thsd7a	T	A	6: 12,317,418 (GRCm39)	N1630I	probably damaging	Het
Tinagl1	T	C	4: 130,061,794 (GRCm39)	K180R	probably damaging	Het
Tmed7	T	C	18: 46,730,190 (GRCm39)	T54A	probably benign	Het
Tmprss2	A	T	16: 97,379,795 (GRCm39)	Y48*	probably null	Het
Tns2	C	T	15: 102,020,069 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,960,577 (GRCm39)	M496V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zbtb39	A	G	10: 127,578,235 (GRCm39)	T270A	probably benign	Het
Zfr	T	C	15: 12,180,798 (GRCm39)	S976P	probably benign	Het
Zscan29	A	G	2: 121,000,538 (GRCm39)	F23S	probably damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43,355,567 (GRCm39)	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43,311,938 (GRCm39)	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43,302,628 (GRCm39)	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43,368,010 (GRCm39)	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43,291,693 (GRCm39)	missense	probably benign	0.04
IGL01977:Atp8b5	APN	4	43,320,590 (GRCm39)	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm39)	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm39)	missense	probably benign
IGL02456:Atp8b5	APN	4	43,365,578 (GRCm39)	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43,369,634 (GRCm39)	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43,366,770 (GRCm39)	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43,305,774 (GRCm39)	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43,366,057 (GRCm39)	missense	probably benign
R0256:Atp8b5	UTSW	4	43,302,576 (GRCm39)	intron	probably benign
R0379:Atp8b5	UTSW	4	43,361,898 (GRCm39)	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43,291,672 (GRCm39)	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43,305,719 (GRCm39)	intron	probably benign
R1442:Atp8b5	UTSW	4	43,334,313 (GRCm39)	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43,302,590 (GRCm39)	missense	probably benign
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43,344,430 (GRCm39)	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43,355,673 (GRCm39)	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43,372,903 (GRCm39)	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43,372,906 (GRCm39)	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43,361,804 (GRCm39)	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43,357,063 (GRCm39)	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43,369,688 (GRCm39)	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43,370,726 (GRCm39)	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43,361,953 (GRCm39)	splice site	probably benign
R3023:Atp8b5	UTSW	4	43,311,957 (GRCm39)	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43,372,697 (GRCm39)	missense	probably benign
R3690:Atp8b5	UTSW	4	43,368,055 (GRCm39)	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43,365,591 (GRCm39)	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43,357,016 (GRCm39)	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43,365,955 (GRCm39)	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43,372,710 (GRCm39)	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43,308,504 (GRCm39)	makesense	probably null
R4784:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43,344,449 (GRCm39)	missense	probably benign
R5422:Atp8b5	UTSW	4	43,366,644 (GRCm39)	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43,370,577 (GRCm39)	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43,304,674 (GRCm39)	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43,371,003 (GRCm39)	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43,334,249 (GRCm39)	missense	probably benign
R6931:Atp8b5	UTSW	4	43,364,108 (GRCm39)	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43,355,618 (GRCm39)	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43,361,835 (GRCm39)	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43,357,018 (GRCm39)	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43,342,640 (GRCm39)	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43,366,021 (GRCm39)	missense	probably benign
R7465:Atp8b5	UTSW	4	43,271,269 (GRCm39)	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43,366,609 (GRCm39)	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43,370,823 (GRCm39)	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43,366,735 (GRCm39)	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43,342,471 (GRCm39)	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43,356,982 (GRCm39)	nonsense	probably null
R8218:Atp8b5	UTSW	4	43,372,728 (GRCm39)	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43,366,072 (GRCm39)	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43,291,714 (GRCm39)	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43,342,439 (GRCm39)	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43,304,687 (GRCm39)	missense
R8942:Atp8b5	UTSW	4	43,353,658 (GRCm39)	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43,308,493 (GRCm39)	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43,372,630 (GRCm39)	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43,367,960 (GRCm39)	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43,369,658 (GRCm39)	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43,305,798 (GRCm39)	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43,366,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43,361,903 (GRCm39)	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43,370,669 (GRCm39)	missense	probably benign	0.12

Posted On

2014-05-07