Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Atp8b5'

593765

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43366735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 833 (T833I)

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: T833I

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: T833I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	G	1: 37,625,371	E482A	probably benign	Het
A630023A22Rik	C	A	14: 34,052,613	L140F	unknown	Het
Actn1	T	C	12: 80,174,537	T581A	probably benign	Het
AI314180	C	G	4: 58,832,660	C900S	unknown	Het
Ak9	T	C	10: 41,348,076	L495S		Het
Aldh5a1	T	C	13: 24,911,748	D462G	probably damaging	Het
Amz2	A	G	11: 109,429,007	D73G	probably damaging	Het
Ank2	A	G	3: 127,032,211	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,571,022	Y342H	probably benign	Het
Camkk2	A	G	5: 122,746,419	I313T	probably damaging	Het
Cdk18	T	C	1: 132,122,378	T20A	probably damaging	Het
Cenpf	A	T	1: 189,662,072	C479S	probably benign	Het
Cfap221	C	A	1: 119,961,929	E192*	probably null	Het
Cfap44	C	T	16: 44,433,786	H958Y	probably damaging	Het
Cic	A	T	7: 25,273,172	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,506,356	G162*	probably null	Het
Col19a1	T	A	1: 24,312,078	Y748F	probably benign	Het
Col27a1	C	T	4: 63,225,718	P548S	possibly damaging	Het
Ctsr	T	A	13: 61,162,567	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,558,970	V360A	probably benign	Het
Defa34	G	T	8: 21,666,629	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,165,043	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,749,095	Q734*	probably null	Het
Dph1	A	T	11: 75,190,441	S7T	probably benign	Het
Dpp8	T	C	9: 65,042,336	V121A	probably benign	Het
Dst	G	A	1: 34,190,387	G2354S	probably benign	Het
Duox2	A	T	2: 122,280,764	L1453Q	probably damaging	Het
Exosc10	T	A	4: 148,558,498	S11T	probably benign	Het
Fetub	A	G	16: 22,939,309	T281A	probably benign	Het
Flii	A	T	11: 60,720,092	W504R	probably damaging	Het
Gm17727	T	C	9: 35,777,176	M38V	probably benign	Het
Gm5093	T	C	17: 46,439,940	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,707,415	D375G	probably benign	Het
Hikeshi	A	T	7: 89,923,681	N101K	probably benign	Het
Hmcn2	T	C	2: 31,423,153	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,405,309	N259S	possibly damaging	Het
Irf6	T	C	1: 193,161,767	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,565,753	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,405,981	P487S	probably benign	Het
Lcp1	C	A	14: 75,206,211	Y222*	probably null	Het
Manea	T	C	4: 26,327,763	D426G	probably damaging	Het
Map3k20	G	T	2: 72,364,681	E101*	probably null	Het
Map3k20	C	G	2: 72,438,314	S555C	probably benign	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Myo6	C	T	9: 80,217,656	P6S	unknown	Het
Myoc	A	T	1: 162,639,445	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,808,157	M1183K	probably benign	Het
Olfr1444	T	C	19: 12,862,713	S313P	possibly damaging	Het
Olfr1468-ps1	T	C	19: 13,375,040	F26S	probably damaging	Het
Olfr676	T	A	7: 105,035,907	H236Q	probably benign	Het
Olfr889	T	A	9: 38,115,892	L37*	probably null	Het
Osbpl11	C	G	16: 33,234,447	N633K	probably benign	Het
Pcdhgb5	A	G	18: 37,732,631	E493G	probably damaging	Het
Phf20	T	A	2: 156,294,138	W626R	probably damaging	Het
Pkp2	C	A	16: 16,240,659	Q402K	probably benign	Het
Plch2	C	T	4: 155,002,787	D336N	possibly damaging	Het
Plk1	T	C	7: 122,169,258	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430	E328D	probably benign	Het
Prss44	G	A	9: 110,817,311	V369M	probably benign	Het
Rilp	A	G	11: 75,510,972	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900	Q69*	probably null	Het
Ryr2	T	C	13: 11,761,315	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,283,140	R238G	possibly damaging	Het
Spen	A	G	4: 141,472,845	S2824P	probably damaging	Het
Stk4	T	C	2: 164,083,743	M77T	probably damaging	Het
Syne2	A	T	12: 75,949,064	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,258,987	R625*	probably null	Het
Tle3	A	T	9: 61,412,856	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,043,802	E230*	probably null	Het
Vmn2r90	T	C	17: 17,733,334	S587P	probably benign	Het
Wt1	A	T	2: 105,126,816	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,062,849	I2482V	probably benign	Het
Zfpm2	A	T	15: 41,096,091	I189F	probably benign	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
R4855:Atp8b5	UTSW	4	43344449	missense	probably benign
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
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'- ACACATTAAGTAAGTGTGTCCTGG -3'
(R):5'- TCTCACTGTGTGCATGCCTG -3'

Sequencing Primer
(F):5'- GTCTGCAGGCCTATGCTCTAGAAG -3'
(R):5'- GCGGCAAACAATACATGCATATTTC -3'

Posted On

2019-11-12