Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02947:Atp8b5'

364793

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: 0.068) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43305774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 106 (I106K)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000136262]

AlphaFold

A3FIN4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056010

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102953
AA Change: I106K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: I106K

Domain	Start	End	E-Value	Type
coiled coil region	20	49	N/A	INTRINSIC
Blast:CUB	55	90	1e-6	BLAST
Pfam:E1-E2_ATPase	107	305	4.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107942
AA Change: I106K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: I106K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136262

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,902,110 (GRCm38)	V13A	probably benign	Het
Cdh15	T	C	8: 122,865,372 (GRCm38)	S633P	probably benign	Het
Celsr3	A	G	9: 108,845,935 (GRCm38)	T228A	probably benign	Het
Cfap90	T	A	13: 68,611,193 (GRCm38)	F95L	probably benign	Het
Chrng	A	G	1: 87,209,884 (GRCm38)		probably null	Het
Coprs	T	C	8: 13,885,782 (GRCm38)	E79G	probably damaging	Het
Cpb2	A	C	14: 75,283,318 (GRCm38)	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,470,578 (GRCm38)	I368N	probably damaging	Het
Ddah1	T	C	3: 145,759,087 (GRCm38)	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,431,033 (GRCm38)	T573A	probably benign	Het
Exoc6b	T	A	6: 84,858,429 (GRCm38)	M375L	probably benign	Het
Fasn	T	C	11: 120,815,676 (GRCm38)	E994G	probably damaging	Het
Fem1a	T	A	17: 56,258,640 (GRCm38)	C578S	probably benign	Het
Garnl3	A	G	2: 33,046,594 (GRCm38)	S188P	probably damaging	Het
Gpn3	T	C	5: 122,378,488 (GRCm38)	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,316,379 (GRCm38)	D59G	probably damaging	Het
Hydin	A	T	8: 110,418,462 (GRCm38)	E815V	probably damaging	Het
Itga9	C	T	9: 118,658,533 (GRCm38)	T228M	probably damaging	Het
Kpna7	T	C	5: 144,994,074 (GRCm38)	I320M	probably damaging	Het
Lnpep	T	C	17: 17,570,972 (GRCm38)	T437A	probably damaging	Het
Ltf	C	T	9: 111,038,947 (GRCm38)	T48I	probably benign	Het
Masp1	T	G	16: 23,494,726 (GRCm38)	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,026,916 (GRCm38)	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787 (GRCm38)	S171T	probably damaging	Het
Nos1	G	A	5: 117,943,317 (GRCm38)	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,229,246 (GRCm38)	S55P	probably benign	Het
Oc90	T	C	15: 65,888,134 (GRCm38)	K212R	probably benign	Het
Or2a12	A	G	6: 42,927,896 (GRCm38)	I222V	probably benign	Het
Or5t15	C	T	2: 86,850,786 (GRCm38)	R304K	probably benign	Het
Or6c202	C	A	10: 129,160,570 (GRCm38)	C138F	probably damaging	Het
Prr12	T	A	7: 45,048,556 (GRCm38)	Q645L	unknown	Het
Psmd9	A	G	5: 123,246,215 (GRCm38)	I145V	probably benign	Het
Rbks	T	C	5: 31,660,063 (GRCm38)	I121V	probably benign	Het
Rnase2b	A	T	14: 51,162,807 (GRCm38)	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,839,854 (GRCm38)	E78G	probably benign	Het
Sltm	A	G	9: 70,591,664 (GRCm38)	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,034,945 (GRCm38)	Y100*	probably null	Het
Srrm2	T	C	17: 23,810,746 (GRCm38)	S222P	probably benign	Het
Sult3a1	G	A	10: 33,864,050 (GRCm38)	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,551,360 (GRCm38)	D132G	probably damaging	Het
Tmem53	C	T	4: 117,268,088 (GRCm38)	Q111*	probably null	Het
Togaram1	T	A	12: 65,021,500 (GRCm38)	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,901,119 (GRCm38)	D628V	probably damaging	Het
Ttn	T	A	2: 76,714,494 (GRCm38)	K31009*	probably null	Het
Vldlr	A	G	19: 27,239,720 (GRCm38)	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,957,246 (GRCm38)	F245S	probably benign	Het
Vrtn	T	A	12: 84,648,484 (GRCm38)	S3T	probably damaging	Het
Vwa7	A	G	17: 35,023,500 (GRCm38)		probably null	Het
Wrnip1	T	A	13: 32,822,070 (GRCm38)	Y632N	probably damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43,355,567 (GRCm38)	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43,311,938 (GRCm38)	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43,302,628 (GRCm38)	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43,368,010 (GRCm38)	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43,291,693 (GRCm38)	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43,366,638 (GRCm38)	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43,320,590 (GRCm38)	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm38)	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm38)	missense	probably benign
IGL02456:Atp8b5	APN	4	43,365,578 (GRCm38)	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43,369,634 (GRCm38)	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43,366,770 (GRCm38)	missense	probably damaging	1.00
R0128:Atp8b5	UTSW	4	43,369,715 (GRCm38)	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43,369,715 (GRCm38)	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43,366,057 (GRCm38)	missense	probably benign
R0256:Atp8b5	UTSW	4	43,302,576 (GRCm38)	intron	probably benign
R0379:Atp8b5	UTSW	4	43,361,898 (GRCm38)	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43,291,672 (GRCm38)	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43,305,719 (GRCm38)	intron	probably benign
R1442:Atp8b5	UTSW	4	43,334,313 (GRCm38)	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43,302,590 (GRCm38)	missense	probably benign
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm38)	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm38)	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43,344,430 (GRCm38)	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43,355,673 (GRCm38)	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43,372,903 (GRCm38)	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43,372,906 (GRCm38)	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43,361,804 (GRCm38)	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43,357,063 (GRCm38)	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43,369,688 (GRCm38)	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43,370,726 (GRCm38)	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43,361,953 (GRCm38)	splice site	probably benign
R3023:Atp8b5	UTSW	4	43,311,957 (GRCm38)	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43,372,697 (GRCm38)	missense	probably benign
R3690:Atp8b5	UTSW	4	43,368,055 (GRCm38)	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43,365,591 (GRCm38)	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43,357,016 (GRCm38)	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43,320,629 (GRCm38)	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43,320,629 (GRCm38)	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43,365,955 (GRCm38)	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43,372,710 (GRCm38)	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43,308,504 (GRCm38)	makesense	probably null
R4784:Atp8b5	UTSW	4	43,356,980 (GRCm38)	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43,356,980 (GRCm38)	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43,344,449 (GRCm38)	missense	probably benign
R5422:Atp8b5	UTSW	4	43,366,644 (GRCm38)	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43,370,577 (GRCm38)	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43,304,674 (GRCm38)	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43,371,003 (GRCm38)	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43,334,249 (GRCm38)	missense	probably benign
R6931:Atp8b5	UTSW	4	43,364,108 (GRCm38)	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43,355,618 (GRCm38)	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43,361,835 (GRCm38)	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43,357,018 (GRCm38)	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43,342,640 (GRCm38)	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43,366,021 (GRCm38)	missense	probably benign
R7465:Atp8b5	UTSW	4	43,271,269 (GRCm38)	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43,366,609 (GRCm38)	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43,370,823 (GRCm38)	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43,366,735 (GRCm38)	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43,342,471 (GRCm38)	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43,356,982 (GRCm38)	nonsense	probably null
R8218:Atp8b5	UTSW	4	43,372,728 (GRCm38)	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43,366,072 (GRCm38)	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43,291,714 (GRCm38)	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43,342,439 (GRCm38)	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43,304,687 (GRCm38)	missense
R8942:Atp8b5	UTSW	4	43,353,658 (GRCm38)	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43,308,493 (GRCm38)	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43,372,630 (GRCm38)	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43,367,960 (GRCm38)	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43,369,658 (GRCm38)	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43,305,798 (GRCm38)	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43,366,774 (GRCm38)	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43,361,903 (GRCm38)	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43,370,669 (GRCm38)	missense	probably benign	0.12

Posted On

2015-12-18