Mutagenetix > Incidental Mutation

Incidental Mutation 'R4484:Atp8b5'

331525

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

041740-MU

Accession Numbers

Essential gene?

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

Stock #

R4484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43357016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 588 (I588T)

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 damaging
Transcript: ENSMUST00000107942
AA Change: I588T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: I588T

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

0.1442

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	C	1: 58,262,571	C1101R	probably damaging	Het
Bahd1	C	T	2: 118,916,406	P169S	probably damaging	Het
BC067074	A	T	13: 113,319,199	N593I	probably damaging	Het
Cd164l2	T	A	4: 133,223,675	V147E	probably damaging	Het
Celsr3	G	A	9: 108,846,063		probably null	Het
Cr2	T	C	1: 195,154,174	T894A	probably damaging	Het
Crtc3	T	C	7: 80,589,948	D552G	probably damaging	Het
Cyp2c50	A	G	19: 40,090,639	E142G	probably damaging	Het
Dcstamp	A	G	15: 39,754,224	I10V	probably benign	Het
Fam208b	T	C	13: 3,581,831	D890G	probably benign	Het
Gm44501	T	A	17: 40,576,616	F8L	unknown	Het
Gpr179	T	C	11: 97,335,711	S1873G	probably benign	Het
Gprin2	C	A	14: 34,194,797	A339S	probably benign	Het
Gucy1b2	T	A	14: 62,411,589	I513F	possibly damaging	Het
Ighv5-6	T	A	12: 113,625,588	R91*	probably null	Het
Igtp	G	A	11: 58,206,998	V332I	possibly damaging	Het
Itfg1	G	A	8: 85,726,249	P497S	probably damaging	Het
Junb	T	C	8: 84,977,888	N181S	possibly damaging	Het
Lama3	T	C	18: 12,481,088	Y1305H	probably benign	Het
Lrrcc1	A	T	3: 14,551,443	N44I	probably damaging	Het
Med15	A	T	16: 17,671,564		probably benign	Het
Mkks	T	C	2: 136,880,574	E221G	probably benign	Het
Mtmr10	T	C	7: 64,320,631	V374A	possibly damaging	Het
Muc5b	G	T	7: 141,868,450	C4441F	possibly damaging	Het
Nim1k	G	A	13: 119,712,174	Q395*	probably null	Het
Nlrp6	A	G	7: 140,921,781	D87G	probably damaging	Het
Ntng1	C	A	3: 110,143,808		probably benign	Het
Padi1	G	T	4: 140,817,270		probably benign	Het
Rxrg	T	C	1: 167,625,027	S133P	probably benign	Het
Snx19	T	C	9: 30,427,896	I110T	probably benign	Het
Strap	T	C	6: 137,749,336		probably benign	Het
Tgtp2	A	T	11: 49,059,352	M131K	probably damaging	Het
Tppp2	T	C	14: 51,919,411	F82L	probably damaging	Het
Ttc39c	A	G	18: 12,730,069	K397E	possibly damaging	Het
Txlnb	T	TTA	10: 17,838,997		probably null	Het
Usp36	T	A	11: 118,285,795	R66W	probably damaging	Het
Vmn1r30	A	T	6: 58,435,133	V238E	probably damaging	Het
Vmn1r6	A	G	6: 57,003,189	I279V	probably benign	Het
Vmn2r61	G	A	7: 42,300,696	D847N	probably benign	Het
Zfp622	G	A	15: 25,987,051		probably null	Het
Zfp963	T	C	8: 69,744,485	I36V	probably benign	Het
Zfy2	A	G	Y: 2,107,351	Y428H	possibly 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
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
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'- TTAGCCTCCAAAGGTAGCAC -3'
(R):5'- ATTTGGAAATGTGGTCAGTGAGAC -3'

Sequencing Primer
(F):5'- TAGCACAGAAACAAATGTTATGGG -3'
(R):5'- TGTCCAACTGAAGAAAACTGATGTC -3'

Posted On

2015-07-21