Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Atp8b5'

161523

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

039497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43334313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 360 (T360S)

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 damaging
Transcript: ENSMUST00000107942
AA Change: T360S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: T360S

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

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,955,632		probably benign	Het
Adamts7	T	A	9: 90,188,770	I648N	probably damaging	Het
Akap13	T	A	7: 75,735,778	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,457,160	H314L	probably damaging	Het
Anxa3	T	A	5: 96,828,690		probably null	Het
Apob	T	G	12: 7,986,165	F298V	probably benign	Het
Atp8a2	A	C	14: 59,860,323		probably benign	Het
BC051665	A	T	13: 60,784,741	N43K	probably benign	Het
Bicral	T	A	17: 46,801,724	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,448,185	D227G	probably damaging	Het
C8a	T	A	4: 104,828,078	T323S	possibly damaging	Het
Cep89	T	C	7: 35,418,211		probably benign	Het
Cercam	G	T	2: 29,880,640	V408L	probably benign	Het
CN725425	G	A	15: 91,238,955	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,605,113	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,866		probably null	Het
Dab2ip	A	T	2: 35,710,256	I287F	probably damaging	Het
Defb10	A	T	8: 21,858,928	M1L	probably benign	Het
Dscam	C	A	16: 96,608,074	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,462,660	I640N	possibly damaging	Het
Duox2	G	C	2: 122,281,751	P1318R	probably benign	Het
Dzip3	T	C	16: 48,945,622	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,691,409		probably null	Het
E2f3	A	G	13: 29,918,669	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,219,586	S9P	probably benign	Het
Etaa1	A	T	11: 17,947,201	D305E	probably benign	Het
Fads6	C	A	11: 115,297,409	R23L	probably benign	Het
Flrt2	T	C	12: 95,780,205	V439A	probably damaging	Het
Galm	A	C	17: 80,145,185	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,860,102		probably benign	Het
Irf7	T	C	7: 141,264,022	T246A	probably damaging	Het
Kif28	A	G	1: 179,705,132	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,302,647	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,360,044	H252R	probably benign	Het
Lzts1	G	T	8: 69,138,986	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,265,398	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,232,353		probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Myh3	A	G	11: 67,087,277	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,351,032		probably benign	Het
Npc1	T	A	18: 12,195,049	M1068L	probably benign	Het
Nupl1	T	A	14: 60,232,543		probably benign	Het
Olfr1286	A	T	2: 111,420,093	I286N	probably damaging	Het
Olfr285	T	C	15: 98,313,187	Y121C	probably damaging	Het
Olfr906	A	T	9: 38,488,643	I205F	probably benign	Het
Olfr95	T	C	17: 37,211,704	T50A	probably benign	Het
Parp2	T	G	14: 50,819,275		probably null	Het
Ppp4r4	T	C	12: 103,598,245	V9A	probably damaging	Het
Ptprc	T	A	1: 138,072,312	D856V	probably damaging	Het
Ptpru	T	A	4: 131,808,269	T466S	probably benign	Het
Rhob	A	G	12: 8,499,325	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,776,786	S775R	probably benign	Het
Slit2	T	G	5: 48,238,383	D709E	probably damaging	Het
Smok2b	C	G	17: 13,235,503	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,818,436	D158V	probably damaging	Het
Syne2	T	C	12: 75,946,715	I2087T	probably damaging	Het
Tada1	G	A	1: 166,386,750	R106H	possibly damaging	Het
Tecta	T	A	9: 42,332,482	I2025F	probably damaging	Het
Themis	T	C	10: 28,782,135	V386A	probably damaging	Het
Ubr5	G	A	15: 38,014,924		probably benign	Het
Vcl	T	A	14: 20,983,378	I134N	probably damaging	Het
Vegfa	G	A	17: 46,025,492	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,472,361	K78*	probably null	Het
Vmn2r82	A	T	10: 79,379,367	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,314,206	S315P	probably benign	Het
Zfp566	T	C	7: 30,077,919	Y279C	probably damaging	Het
Zmym2	T	C	14: 56,943,327	Y899H	probably damaging	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
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
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'- TCTCCAAGGGGAAACATCTATGAGAGC -3'
(R):5'- GCAGCGTCTAGTTACTGTTTACACACC -3'

Sequencing Primer
(F):5'- ACATCTATGAGAGCTAAGACTGC -3'
(R):5'- ctgatgctgaggcaggg -3'

Posted On

2014-03-14