Mutagenetix > Incidental Mutation

Incidental Mutation 'R4855:Atp8b5'

373868

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

042466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43344449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 445 (N445K)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

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

AlphaFold

A3FIN4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056010

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably benign
Transcript: ENSMUST00000107942
AA Change: N445K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: N445K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4921501E09Rik	C	T	17: 33,066,739	S363N	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Adad1	G	T	3: 37,085,111	L443F	probably damaging	Het
Amph	T	A	13: 19,084,208	M70K	probably damaging	Het
Ankra2	T	A	13: 98,273,411	L306H	probably damaging	Het
Arc	A	C	15: 74,671,743	D210E	probably benign	Het
Arhgap10	A	G	8: 77,432,738		probably null	Het
C1qc	G	T	4: 136,890,435	Q117K	probably benign	Het
Cadps	T	A	14: 12,822,449	E97V	unknown	Het
Capn13	GCA	G	17: 73,351,506		probably null	Het
Cdk13	A	T	13: 17,721,283	W1014R	probably damaging	Het
Cltb	C	T	13: 54,599,095	E23K	probably damaging	Het
Clvs2	A	T	10: 33,622,646	I96N	probably damaging	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Ddr2	A	T	1: 169,988,497	L547Q	possibly damaging	Het
Ebf1	A	T	11: 44,972,908	K354*	probably null	Het
Fam208b	A	T	13: 3,566,680		probably null	Het
Fat4	A	G	3: 38,888,317	Q453R	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gata6	A	G	18: 11,054,497	E142G	possibly damaging	Het
Gm14221	T	C	2: 160,574,680		noncoding transcript	Het
Gm42791	C	A	5: 148,959,437		probably benign	Het
Gm6370	G	T	5: 146,493,811	V269L	probably benign	Het
Gphn	G	A	12: 78,627,210	V526M	probably damaging	Het
Gpt	A	T	15: 76,699,285	E206V	probably damaging	Het
Grm3	G	A	5: 9,570,047	A399V	probably damaging	Het
Helq	A	T	5: 100,783,159	V575E	possibly damaging	Het
Herc4	A	G	10: 63,315,658		probably null	Het
Ifi207	A	T	1: 173,729,815	N452K	probably damaging	Het
Ikbke	A	G	1: 131,257,111		probably null	Het
Kbtbd2	A	G	6: 56,779,702	F350L	probably benign	Het
Kmt2c	A	G	5: 25,314,557	V2185A	probably benign	Het
Lgi2	T	C	5: 52,538,507	Q362R	probably damaging	Het
Lrit1	G	A	14: 37,061,816	G367E	possibly damaging	Het
Lrp1	G	A	10: 127,610,442	H78Y	probably benign	Het
Matk	A	G	10: 81,262,886		probably benign	Het
Med21	G	A	6: 146,648,192	G24S	probably damaging	Het
Met	G	T	6: 17,558,797	L1141F	probably damaging	Het
Mroh3	A	T	1: 136,200,939		probably null	Het
Mrpl15	T	C	1: 4,774,460	I203V	probably benign	Het
Naip1	T	C	13: 100,423,220		probably null	Het
Ndufa9	A	C	6: 126,827,542	Y298*	probably null	Het
Neb	T	C	2: 52,298,894	E808G	probably damaging	Het
Nol4l	C	T	2: 153,411,806	G616S	probably benign	Het
Olfr1290	T	G	2: 111,489,948	D70A	probably damaging	Het
Olfr1306	A	G	2: 111,912,099	V277A	probably benign	Het
Olfr676	T	A	7: 105,035,651	I151N	probably damaging	Het
Olfr700	T	C	7: 106,806,256	M69V	probably benign	Het
Olfr988	T	C	2: 85,353,449	N159S	possibly damaging	Het
Oprm1	T	A	10: 6,838,468	C408S	probably benign	Het
Paqr3	A	G	5: 97,108,194	I107T	possibly damaging	Het
Pex5l	G	A	3: 33,142,840		probably benign	Het
Pik3ap1	T	C	19: 41,327,845	D326G	probably benign	Het
Plaa	G	T	4: 94,586,408	D252E	probably damaging	Het
Plxna2	G	A	1: 194,797,732	V1404I	probably benign	Het
Ppargc1a	G	A	5: 51,474,222	A355V	possibly damaging	Het
Primpol	A	G	8: 46,586,691	S350P	probably benign	Het
Prlr	T	C	15: 10,328,797	S453P	probably benign	Het
Psmd5	T	C	2: 34,852,552		probably benign	Het
Robo2	A	T	16: 73,971,191	V571E	probably damaging	Het
Sbspon	A	T	1: 15,859,040	S176T	possibly damaging	Het
Scyl2	G	A	10: 89,640,463		probably benign	Het
Sema3e	T	A	5: 14,230,130	V341E	probably damaging	Het
Serpinb3b	A	T	1: 107,154,540	F331L	possibly damaging	Het
Setd2	A	G	9: 110,571,954	H1736R	probably benign	Het
Sidt2	A	T	9: 45,952,029	D180E	probably benign	Het
Skint9	A	T	4: 112,391,011	Y179N	probably benign	Het
Slc27a5	T	C	7: 12,988,633	N638S	probably benign	Het
Slc6a4	T	A	11: 77,013,309	W197R	probably damaging	Het
Spag17	A	T	3: 100,063,333	M1278L	probably benign	Het
Sptbn1	T	A	11: 30,142,353	I471F	probably damaging	Het
Teddm1a	A	G	1: 153,892,636	Q282R	probably benign	Het
Tex35	A	G	1: 157,099,725	L160P	probably damaging	Het
Tfap2c	T	C	2: 172,551,518	Y118H	probably damaging	Het
Tpp1	T	C	7: 105,746,723	Q533R	probably benign	Het
Ttc13	C	T	8: 124,674,435	D730N	probably damaging	Het
Ufc1	A	G	1: 171,294,802		probably benign	Het
Vcpip1	A	G	1: 9,747,364	W265R	probably damaging	Het
Wdr11	C	G	7: 129,600,434		probably null	Het
Xirp2	A	G	2: 67,511,064	I1216M	possibly damaging	Het
Zswim2	A	G	2: 83,916,843		probably null	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43355567	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43311938	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43302628	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43368010	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43291693	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43366638	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43320590	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43364167	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43334205	missense	probably benign
IGL02456:Atp8b5	APN	4	43365578	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43369634	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43366770	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43305774	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43369715	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43369715	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43366057	missense	probably benign
R0256:Atp8b5	UTSW	4	43302576	intron	probably benign
R0379:Atp8b5	UTSW	4	43361898	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43291672	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43305719	intron	probably benign
R1442:Atp8b5	UTSW	4	43334313	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43302590	missense	probably benign
R1469:Atp8b5	UTSW	4	43291733	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43291733	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43344430	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43355673	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43372903	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43372906	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43361804	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43357063	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43369688	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43370726	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43361953	splice site	probably benign
R3023:Atp8b5	UTSW	4	43311957	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43372697	missense	probably benign
R3690:Atp8b5	UTSW	4	43368055	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43365591	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43357016	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43320629	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43320629	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43365955	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43372710	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43308504	makesense	probably null
R4784:Atp8b5	UTSW	4	43356980	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43356980	missense	probably damaging	0.97
R5422:Atp8b5	UTSW	4	43366644	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43370577	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43304674	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43371003	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43334249	missense	probably benign
R6931:Atp8b5	UTSW	4	43364108	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43355618	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43361835	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43357018	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43342640	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43366021	missense	probably benign
R7465:Atp8b5	UTSW	4	43271269	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43366609	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43370823	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43366735	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43342471	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43356982	nonsense	probably null
R8218:Atp8b5	UTSW	4	43372728	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43366072	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43291714	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43342439	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43304687	missense
R8942:Atp8b5	UTSW	4	43353658	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43308493	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43372630	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43367960	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43369658	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43305798	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43366774	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43361903	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43370669	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTGAGGTTTAAAAGCGGCAG -3'
(R):5'- GGTAGAGACACAGCCAACACTG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGACCAGCCTG -3'
(R):5'- GCCAACACTGACAAGACAACTTTC -3'

Posted On

2016-03-01