Mutagenetix > Incidental Mutation

Incidental Mutation 'R8888:Atp8b5'

677468

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: 0.066) question?

Stock #

R8888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43304687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 66 (N66S)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

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

AlphaFold

A3FIN4

Predicted Effect

probably benign
Transcript: ENSMUST00000102953
AA Change: N66S

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: N66S

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

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: N66S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	C	5: 24,550,630	D298G	probably benign	Het
5830411N06Rik	C	T	7: 140,261,619	P279S	possibly damaging	Het
Akr1a1	A	G	4: 116,641,063	L95P	probably damaging	Het
Amigo2	G	T	15: 97,245,508	N344K	probably damaging	Het
Ankrd11	T	C	8: 122,894,275	D946G	possibly damaging	Het
Ankrd12	T	C	17: 66,031,573		probably null	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Birc6	G	A	17: 74,528,538	S24N	probably null	Het
Bzw2	A	T	12: 36,123,983	C97*	probably null	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Capn12	T	A	7: 28,886,524		probably benign	Het
Cdh1	T	A	8: 106,604,339	F34Y	probably damaging	Het
Cdh5	T	C	8: 104,125,460	I69T	possibly damaging	Het
Celsr2	G	A	3: 108,413,564	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,348,815	L226Q	possibly damaging	Het
Clasp2	T	A	9: 113,903,868	M924K	possibly damaging	Het
Col3a1	G	A	1: 45,339,979	A850T	unknown	Het
Cped1	C	T	6: 22,016,963	P104S	possibly damaging	Het
Cyp2c69	T	C	19: 39,881,466	D104G	possibly damaging	Het
Daw1	T	A	1: 83,209,290	C274S	probably damaging	Het
Dmtn	T	C	14: 70,612,704	T267A	probably benign	Het
Dock5	A	G	14: 67,817,663	Y585H	possibly damaging	Het
Dopey1	A	G	9: 86,521,534	I132V	probably benign	Het
Dpysl5	C	T	5: 30,745,343	R40C	probably benign	Het
Dsg2	T	G	18: 20,590,069	V384G	probably damaging	Het
Elmo1	C	T	13: 20,564,460	L492F	probably damaging	Het
Epg5	C	A	18: 78,012,871	D1753E	possibly damaging	Het
Ext1	T	C	15: 53,092,327	Y458C	probably damaging	Het
Folr2	C	T	7: 101,840,201	V244M	unknown	Het
Frmd6	C	A	12: 70,893,872	H430Q	possibly damaging	Het
Galnt18	T	C	7: 111,779,502	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,833,150	Y119*	probably null	Het
Gm853	T	C	4: 130,211,430	K316E	probably benign	Het
Gm884	T	A	11: 103,618,830	T771S	unknown	Het
Gria4	A	G	9: 4,664,951	S102P	probably damaging	Het
Hc	A	T	2: 35,000,849	N1318K	probably benign	Het
Htr2a	C	T	14: 74,645,177	T201I	possibly damaging	Het
Ifitm1	T	C	7: 140,969,586	L94P	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kank4	C	T	4: 98,765,510	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,796,661		probably benign	Het
Klhl29	A	T	12: 5,137,542	L274H	possibly damaging	Het
Lamb1	A	G	12: 31,302,954	T885A	possibly damaging	Het
Lipi	A	T	16: 75,555,822	L376I	probably benign	Het
Malrd1	A	T	2: 15,845,227	N1219I	unknown	Het
Mrc1	A	C	2: 14,307,949	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,816,287	A127T	possibly damaging	Het
Naip2	T	C	13: 100,189,136	H88R	probably benign	Het
Nek5	C	T	8: 22,090,479		probably null	Het
Nlrc5	G	A	8: 94,525,490	V1880I	probably benign	Het
Noc3l	T	A	19: 38,810,307	K282N	probably damaging	Het
Nwd2	T	C	5: 63,805,898	Y942H	probably damaging	Het
Olfr1123	T	C	2: 87,418,315	V87A	probably benign	Het
Olfr1318	G	A	2: 112,156,629	R226H	probably benign	Het
Olfr646	T	A	7: 104,107,095	I272N	probably damaging	Het
Osbpl9	C	A	4: 109,073,136	A221S	probably benign	Het
Paip1	T	C	13: 119,430,265	L45S	probably benign	Het
Pccb	A	T	9: 101,023,252		probably benign	Het
Pgap3	A	G	11: 98,390,776	F199L	possibly damaging	Het
Pik3c2g	A	T	6: 139,730,366	K79*	probably null	Het
Pou3f1	C	G	4: 124,658,359	A218G	possibly damaging	Het
Ptk2b	T	A	14: 66,174,793	N383I	probably benign	Het
Rad52	C	T	6: 119,913,080	R56C	probably damaging	Het
Rdh7	A	T	10: 127,888,561	F18Y	probably benign	Het
Sept5	A	G	16: 18,623,111	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,582,234	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,369,836	M495L	probably benign	Het
Sntg1	T	A	1: 8,677,850		probably null	Het
Spdye4a	T	G	5: 143,225,663	S49R	probably benign	Het
Spred2	T	A	11: 20,001,019	I72N	probably benign	Het
Stox1	A	T	10: 62,659,607	H962Q	probably benign	Het
Susd2	G	T	10: 75,639,618	A484D	possibly damaging	Het
Syt14	A	G	1: 192,897,558	S473P	probably damaging	Het
Tpx2	T	C	2: 152,882,335	Y344H	probably damaging	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Ttf2	A	T	3: 100,962,712	F348L	probably benign	Het
Ttn	A	T	2: 76,833,306	V11675E	unknown	Het
Usp2	G	T	9: 44,075,597	R64L	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
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
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'- TGTATTGACAGTTCCTGCCAC -3'
(R):5'- TTGGACTAAGACTCCAGGTAGC -3'

Sequencing Primer
(F):5'- TGCCACAGGTTTAATAAGACCC -3'
(R):5'- GACTAAGACTCCAGGTAGCCATTTG -3'

Posted On

2021-08-02