Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Pgap6'

580515

Institutional Source

Beutler Lab

Gene Symbol

Pgap6

Ensembl Gene

ENSMUSG00000024180

Gene Name

post-glycosylphosphatidylinositol attachment to proteins 6

Synonyms

Rxylt1, Tmem8, M83

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26332290-26342228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26339423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 579 (M579K)

Ref Sequence

ENSEMBL: ENSMUSP00000025010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000025014] [ENSMUST00000128597]

AlphaFold

Q9ESN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025010
AA Change: M579K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: M579K

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
EGF	495	531	1.99e1	SMART
Pfam:DUF3522	541	725	1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025014

SMART Domains

Protein: ENSMUSP00000025014
Gene: ENSMUSG00000024181

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L28	77	138	3.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127647

SMART Domains

Protein: ENSMUSP00000115369
Gene: ENSMUSG00000024181

Domain	Start	End	E-Value	Type
PDB:4CE4\|1	2	44	5e-19	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000128597
AA Change: M87K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180
AA Change: M87K

Domain	Start	End	E-Value	Type
EGF	3	39	1.99e1	SMART
Pfam:DUF3522	47	143	2e-36	PFAM
Pfam:DUF3522	134	194	2.6e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Cryl1	T	C	14: 57,541,148 (GRCm39)	I179V	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Gabrb2	T	G	11: 42,378,039 (GRCm39)	M85R	probably damaging	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Nr2f1	A	T	13: 78,343,716 (GRCm39)	S183T	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Recql4	T	A	15: 76,587,982 (GRCm39)	M1204L	probably benign	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,897,767 (GRCm39)	T691S	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	Het

Other mutations in Pgap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Pgap6	APN	17	26,336,493 (GRCm39)	missense	probably damaging	0.96
IGL01014:Pgap6	APN	17	26,335,983 (GRCm39)	unclassified	probably benign
IGL02167:Pgap6	APN	17	26,338,045 (GRCm39)	missense	probably damaging	1.00
IGL02375:Pgap6	APN	17	26,338,473 (GRCm39)	missense	probably benign	0.05
IGL02892:Pgap6	APN	17	26,338,094 (GRCm39)	missense	probably damaging	1.00
IGL02931:Pgap6	APN	17	26,336,923 (GRCm39)	missense	probably benign
IGL03005:Pgap6	APN	17	26,337,911 (GRCm39)	missense	probably benign	0.01
IGL03124:Pgap6	APN	17	26,335,808 (GRCm39)	missense	probably damaging	0.98
IGL03046:Pgap6	UTSW	17	26,338,414 (GRCm39)	splice site	probably null
R0551:Pgap6	UTSW	17	26,339,576 (GRCm39)	missense	probably damaging	1.00
R0555:Pgap6	UTSW	17	26,336,088 (GRCm39)	missense	probably benign	0.19
R1502:Pgap6	UTSW	17	26,339,290 (GRCm39)	missense	possibly damaging	0.82
R1593:Pgap6	UTSW	17	26,337,381 (GRCm39)	missense	possibly damaging	0.63
R1688:Pgap6	UTSW	17	26,337,882 (GRCm39)	missense	possibly damaging	0.94
R1829:Pgap6	UTSW	17	26,341,194 (GRCm39)	missense	probably damaging	1.00
R2071:Pgap6	UTSW	17	26,341,017 (GRCm39)	missense	probably damaging	1.00
R2117:Pgap6	UTSW	17	26,336,858 (GRCm39)	missense	possibly damaging	0.67
R3609:Pgap6	UTSW	17	26,337,860 (GRCm39)	missense	probably benign	0.23
R3610:Pgap6	UTSW	17	26,337,860 (GRCm39)	missense	probably benign	0.23
R4564:Pgap6	UTSW	17	26,336,837 (GRCm39)	missense	possibly damaging	0.80
R4749:Pgap6	UTSW	17	26,335,757 (GRCm39)	missense	probably damaging	1.00
R4777:Pgap6	UTSW	17	26,340,515 (GRCm39)	missense	probably damaging	1.00
R4913:Pgap6	UTSW	17	26,339,513 (GRCm39)	missense	probably damaging	1.00
R5098:Pgap6	UTSW	17	26,337,902 (GRCm39)	missense	probably damaging	1.00
R5126:Pgap6	UTSW	17	26,340,614 (GRCm39)	missense	probably damaging	0.99
R5640:Pgap6	UTSW	17	26,337,846 (GRCm39)	missense	possibly damaging	0.50
R5722:Pgap6	UTSW	17	26,339,536 (GRCm39)	frame shift	probably null
R5723:Pgap6	UTSW	17	26,339,536 (GRCm39)	frame shift	probably null
R5739:Pgap6	UTSW	17	26,339,425 (GRCm39)	missense	probably damaging	1.00
R5927:Pgap6	UTSW	17	26,340,972 (GRCm39)	missense	probably benign	0.34
R6587:Pgap6	UTSW	17	26,340,538 (GRCm39)	missense	probably benign	0.03
R6723:Pgap6	UTSW	17	26,339,610 (GRCm39)	missense	probably damaging	0.96
R7588:Pgap6	UTSW	17	26,341,017 (GRCm39)	missense	probably damaging	1.00
R7621:Pgap6	UTSW	17	26,336,865 (GRCm39)	missense	probably benign	0.00
R7771:Pgap6	UTSW	17	26,341,047 (GRCm39)	missense	probably damaging	1.00
R8037:Pgap6	UTSW	17	26,336,509 (GRCm39)	missense	possibly damaging	0.63
R8493:Pgap6	UTSW	17	26,340,931 (GRCm39)	missense	probably damaging	1.00
R8956:Pgap6	UTSW	17	26,339,374 (GRCm39)	missense	possibly damaging	0.89
R9048:Pgap6	UTSW	17	26,340,515 (GRCm39)	missense	probably damaging	1.00
R9574:Pgap6	UTSW	17	26,337,861 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTCATGCCTAGGTATTGCG -3'
(R):5'- GCAAAGAATGGTCACCCAGGTG -3'

Sequencing Primer
(F):5'- TAGGTATTGCGTGGCCCC -3'
(R):5'- GCCCCAGAGCCCAGAAAGTC -3'

Posted On

2019-10-07