Mutagenetix > Incidental Mutation

Incidental Mutation 'R0256:Atp8b5'

34736

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

038487-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0256 (G1)

Quality Score

116

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 43302576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116428 (fasta)

Gene Model

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

AlphaFold

A3FIN4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056010

Predicted Effect

probably benign
Transcript: ENSMUST00000102953

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457

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

probably benign
Transcript: ENSMUST00000107942

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457

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

1x: 98.6%
3x: 97.6%
10x: 95.8%
20x: 92.8%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	T	10: 29,098,252 (GRCm39)	L186F	probably damaging	Het
Abce1	A	C	8: 80,412,572 (GRCm39)		probably null	Het
Acvrl1	A	T	15: 101,035,002 (GRCm39)	N254Y	probably damaging	Het
Apip	T	A	2: 102,918,916 (GRCm39)	M72K	possibly damaging	Het
Arg1	A	G	10: 24,792,356 (GRCm39)	Y188H	probably benign	Het
Armc3	A	T	2: 19,274,027 (GRCm39)	N354Y	probably damaging	Het
Arrdc5	A	G	17: 56,601,382 (GRCm39)	F248L	probably damaging	Het
Bltp1	G	T	3: 36,971,922 (GRCm39)	V552L	probably benign	Het
Ccdc154	C	T	17: 25,389,606 (GRCm39)	A490V	probably benign	Het
Cdh6	T	C	15: 13,053,868 (GRCm39)		probably benign	Het
Chmp2b	G	T	16: 65,337,078 (GRCm39)	T193K	probably benign	Het
Clca3a1	A	T	3: 144,436,640 (GRCm39)	N814K	probably damaging	Het
Cmtr1	T	C	17: 29,916,098 (GRCm39)	L576P	probably damaging	Het
Fhl5	T	C	4: 25,213,624 (GRCm39)	H104R	probably benign	Het
Foxk1	A	G	5: 142,439,436 (GRCm39)		probably benign	Het
Gm11596	T	A	11: 99,683,542 (GRCm39)	T193S	unknown	Het
Gm15217	A	T	14: 46,617,853 (GRCm39)		probably benign	Het
Hic2	A	G	16: 17,075,377 (GRCm39)	I69V	probably benign	Het
Ivl	T	C	3: 92,479,150 (GRCm39)	D305G	probably damaging	Het
Kcnn2	A	G	18: 45,725,472 (GRCm39)	T323A	probably damaging	Het
Krt7	C	T	15: 101,321,190 (GRCm39)	Q336*	probably null	Het
Krt73	T	G	15: 101,710,371 (GRCm39)	D121A	probably damaging	Het
Mok	T	C	12: 110,774,539 (GRCm39)	D216G	probably damaging	Het
Muc17	A	G	5: 137,175,539 (GRCm39)	C44R	probably damaging	Het
Muc5b	A	G	7: 141,395,132 (GRCm39)	Y46C	unknown	Het
Muc5b	T	C	7: 141,396,995 (GRCm39)	F223L	unknown	Het
Noct	A	G	3: 51,157,895 (GRCm39)	D411G	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5j1	T	C	2: 86,879,400 (GRCm39)	Y60C	probably damaging	Het
Or6c76b	A	T	10: 129,692,906 (GRCm39)	D173V	probably damaging	Het
Pigv	T	C	4: 133,393,062 (GRCm39)	H36R	probably damaging	Het
Plscr3	A	G	11: 69,740,880 (GRCm39)	K239E	probably damaging	Het
Prkag3	T	C	1: 74,780,330 (GRCm39)	D445G	probably benign	Het
Ramp1	A	T	1: 91,124,641 (GRCm39)		probably benign	Het
Ror1	T	A	4: 100,266,942 (GRCm39)	H214Q	probably benign	Het
Selenbp2	A	T	3: 94,607,008 (GRCm39)	H156L	probably benign	Het
Slc28a3	T	C	13: 58,721,314 (GRCm39)	T284A	probably benign	Het
Slc35a1	T	C	4: 34,668,962 (GRCm39)	T284A	probably benign	Het
Smco2	A	T	6: 146,763,244 (GRCm39)	I184F	probably damaging	Het
Son	A	G	16: 91,453,472 (GRCm39)	M740V	possibly damaging	Het
Stil	T	A	4: 114,880,882 (GRCm39)	N475K	possibly damaging	Het
Sval3	A	G	6: 41,949,839 (GRCm39)	D122G	probably damaging	Het
Tnks	A	G	8: 35,328,701 (GRCm39)	M623T	probably benign	Het
Zfp142	A	G	1: 74,617,317 (GRCm39)	V235A	probably benign	Het
Zfp423	A	T	8: 88,500,262 (GRCm39)	C1053*	probably null	Het
Zfp648	T	A	1: 154,081,414 (GRCm39)	D524E	probably benign	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
IGL01935:Atp8b5	APN	4	43,366,638 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- ACTACTGCCTAGCCAGGCATCC -3'
(R):5'- TTCATCAAGAGATGGGAACTGGCAC -3'

Sequencing Primer
(F):5'- ccttctgctaccatttctcaac -3'
(R):5'- TGTCATGGATGTCGAAGTGAAC -3'

Posted On

2013-05-09