Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Atp8b5'

349904

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

041932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43365955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 742 (K742M)

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: K742M

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: K742M

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,216,867 (GRCm39)	V450A	probably benign	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdca2	T	C	14: 67,952,415 (GRCm39)	K14E	possibly damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Copb1	T	C	7: 113,848,211 (GRCm39)	D108G	probably damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Glmn	G	T	5: 107,708,941 (GRCm39)	T372K	probably damaging	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pcdhb12	T	C	18: 37,570,002 (GRCm39)	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	probably 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
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
R8756:Atp8b5	UTSW	4	43,342,439 (GRCm39)	missense	probably damaging	0.98
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'- TGTGGACATGGCCAACTAC -3'
(R):5'- CCCTGAATTAGGTTGGATCTCG -3'

Sequencing Primer
(F):5'- TGTGGACATGGCCAACTACTATAAC -3'
(R):5'- AATTAGGTTGGATCTCGGAATAGC -3'

Posted On

2015-10-08