Mutagenetix > Incidental Mutation

Incidental Mutation 'R8756:Atp8b5'

664156

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

068597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43342439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 370 (V370A)

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: V370A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: V370A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	A	T	6: 87,165,235 (GRCm39)	S401T	probably damaging	Het
Armh1	T	A	4: 117,094,861 (GRCm39)	I60L	probably benign	Het
Atraid	T	A	5: 31,211,385 (GRCm39)	Y184N	probably damaging	Het
Cp	G	C	3: 20,059,736 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,903,767 (GRCm39)	I1824T	probably benign	Het
Cyp2c65	A	T	19: 39,049,552 (GRCm39)	R27*	probably null	Het
Dtl	T	C	1: 191,271,371 (GRCm39)	H725R	probably benign	Het
Dync1h1	G	T	12: 110,583,261 (GRCm39)	A453S	probably benign	Het
Fat3	T	A	9: 16,287,885 (GRCm39)	D546V	probably damaging	Het
Flt1	T	C	5: 147,576,224 (GRCm39)	T595A	probably benign	Het
Gtf2ird2	C	T	5: 134,226,090 (GRCm39)	P179S	possibly damaging	Het
Hoga1	A	G	19: 42,048,716 (GRCm39)	I145V	probably benign	Het
Igfn1	G	T	1: 135,895,698 (GRCm39)	Q1623K	probably benign	Het
Jsrp1	T	A	10: 80,647,940 (GRCm39)		probably null	Het
Krt90	A	C	15: 101,470,779 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,808,810 (GRCm39)	S514T	probably benign	Het
Mad2l1	T	C	6: 66,512,569 (GRCm39)	V20A	probably damaging	Het
Malrd1	T	C	2: 15,757,706 (GRCm39)		probably null	Het
Matn2	A	C	15: 34,423,876 (GRCm39)	E578A	possibly damaging	Het
Myof	A	T	19: 37,928,400 (GRCm39)	W1050R	probably benign	Het
Nemp1	T	A	10: 127,528,845 (GRCm39)	I183N	probably benign	Het
Nid1	A	G	13: 13,683,386 (GRCm39)	T1155A	probably benign	Het
Nsd1	T	C	13: 55,461,506 (GRCm39)	S2681P	probably benign	Het
Onecut3	C	A	10: 80,349,750 (GRCm39)	R415S	probably damaging	Het
Or2d2	T	C	7: 106,728,019 (GRCm39)	T194A	probably benign	Het
Or4s2	T	A	2: 88,473,183 (GRCm39)	V24E	possibly damaging	Het
Pclo	T	A	5: 14,764,398 (GRCm39)	S1005R		Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
R3hcc1l	G	A	19: 42,552,073 (GRCm39)	V357M	probably damaging	Het
Sec63	C	T	10: 42,686,905 (GRCm39)	T475M	possibly damaging	Het
Serpinh1	A	G	7: 98,996,359 (GRCm39)	Y242H	probably damaging	Het
Slit2	G	T	5: 48,459,829 (GRCm39)	E1370*	probably null	Het
Sos2	C	A	12: 69,695,310 (GRCm39)	L142F	probably damaging	Het
Spag4	T	C	2: 155,908,493 (GRCm39)	L141P	possibly damaging	Het
Sun1	T	C	5: 139,222,444 (GRCm39)	L570P	probably damaging	Het
Tars2	A	G	3: 95,648,672 (GRCm39)	V662A	probably benign	Het
Tmem245	C	A	4: 56,899,025 (GRCm39)		probably null	Het
Tpp2	T	A	1: 43,999,295 (GRCm39)	Y356*	probably null	Het
Trafd1	T	C	5: 121,513,878 (GRCm39)	E303G	probably damaging	Het
Trim71	T	C	9: 114,342,605 (GRCm39)	E559G	possibly damaging	Het
Ush2a	T	A	1: 188,644,141 (GRCm39)	V4501E	possibly damaging	Het
Vegfa	T	C	17: 46,342,465 (GRCm39)	T118A	probably damaging	Het
Vmn2r124	A	T	17: 18,294,094 (GRCm39)	H727L	probably benign	Het
Zdhhc2	T	A	8: 40,920,551 (GRCm39)	V270E	probably damaging	Het
Zfp112	T	C	7: 23,824,997 (GRCm39)	S326P	probably benign	Het
Zfp37	T	C	4: 62,110,371 (GRCm39)	D272G	possibly damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43,355,567 (GRCm39)	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43,311,938 (GRCm39)	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43,302,628 (GRCm39)	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43,368,010 (GRCm39)	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43,291,693 (GRCm39)	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43,366,638 (GRCm39)	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43,320,590 (GRCm39)	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm39)	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm39)	missense	probably benign
IGL02456:Atp8b5	APN	4	43,365,578 (GRCm39)	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43,369,634 (GRCm39)	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43,366,770 (GRCm39)	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43,305,774 (GRCm39)	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43,366,057 (GRCm39)	missense	probably benign
R0256:Atp8b5	UTSW	4	43,302,576 (GRCm39)	intron	probably benign
R0379:Atp8b5	UTSW	4	43,361,898 (GRCm39)	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43,291,672 (GRCm39)	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43,305,719 (GRCm39)	intron	probably benign
R1442:Atp8b5	UTSW	4	43,334,313 (GRCm39)	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43,302,590 (GRCm39)	missense	probably benign
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43,344,430 (GRCm39)	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43,355,673 (GRCm39)	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43,372,903 (GRCm39)	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43,372,906 (GRCm39)	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43,361,804 (GRCm39)	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43,357,063 (GRCm39)	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43,369,688 (GRCm39)	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43,370,726 (GRCm39)	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43,361,953 (GRCm39)	splice site	probably benign
R3023:Atp8b5	UTSW	4	43,311,957 (GRCm39)	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43,372,697 (GRCm39)	missense	probably benign
R3690:Atp8b5	UTSW	4	43,368,055 (GRCm39)	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43,365,591 (GRCm39)	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43,357,016 (GRCm39)	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43,365,955 (GRCm39)	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43,372,710 (GRCm39)	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43,308,504 (GRCm39)	makesense	probably null
R4784:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43,344,449 (GRCm39)	missense	probably benign
R5422:Atp8b5	UTSW	4	43,366,644 (GRCm39)	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43,370,577 (GRCm39)	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43,304,674 (GRCm39)	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43,371,003 (GRCm39)	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43,334,249 (GRCm39)	missense	probably benign
R6931:Atp8b5	UTSW	4	43,364,108 (GRCm39)	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43,355,618 (GRCm39)	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43,361,835 (GRCm39)	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43,357,018 (GRCm39)	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43,342,640 (GRCm39)	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43,366,021 (GRCm39)	missense	probably benign
R7465:Atp8b5	UTSW	4	43,271,269 (GRCm39)	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43,366,609 (GRCm39)	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43,370,823 (GRCm39)	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43,366,735 (GRCm39)	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43,342,471 (GRCm39)	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43,356,982 (GRCm39)	nonsense	probably null
R8218:Atp8b5	UTSW	4	43,372,728 (GRCm39)	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43,366,072 (GRCm39)	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43,291,714 (GRCm39)	missense	probably benign	0.01
R8888:Atp8b5	UTSW	4	43,304,687 (GRCm39)	missense
R8942:Atp8b5	UTSW	4	43,353,658 (GRCm39)	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43,308,493 (GRCm39)	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43,372,630 (GRCm39)	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43,367,960 (GRCm39)	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43,369,658 (GRCm39)	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43,305,798 (GRCm39)	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43,366,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43,361,903 (GRCm39)	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43,370,669 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TAATCAGTTCTATTGGGGTCCAGG -3'
(R):5'- CCATAGGTCTTCCCGTTGATAG -3'

Sequencing Primer
(F):5'- GGGTCCAGGTGGGGAAAC -3'
(R):5'- AGGTCTTCCCGTTGATAGAACATTTG -3'

Posted On

2021-03-08