Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Pgghg'

591863

Institutional Source

Beutler Lab

Gene Symbol

Pgghg

Ensembl Gene

ENSMUSG00000062031

Gene Name

protein glucosylgalactosylhydroxylysine glucosidase

Synonyms

5730511L01Rik, Athl1

MMRRC Submission

045739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140941391-140947664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140945469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 428 (D428Y)

Ref Sequence

ENSEMBL: ENSMUSP00000078372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026562] [ENSMUST00000079403] [ENSMUST00000163094] [ENSMUST00000164580] [ENSMUST00000211129]

AlphaFold

Q8BP56

Predicted Effect

probably benign
Transcript: ENSMUST00000026562

SMART Domains

Protein: ENSMUSP00000026562
Gene: ENSMUSG00000025489

Domain	Start	End	E-Value	Type
Pfam:CD225	26	102	1.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079403
AA Change: D428Y

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

SMART Domains

Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: D428Y

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_65m	279	496	3.5e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163094

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: D428Y

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_65m	279	496	3.6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211129

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Pgghg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Pgghg	APN	7	140945351	critical splice donor site	probably null
IGL00848:Pgghg	APN	7	140942404	missense	probably damaging	1.00
IGL01903:Pgghg	APN	7	140946828	missense	probably benign	0.03
IGL02060:Pgghg	APN	7	140946633	missense	probably benign	0.30
IGL02475:Pgghg	APN	7	140945720	missense
IGL02519:Pgghg	APN	7	140944981	missense	possibly damaging	0.94
IGL02612:Pgghg	APN	7	140946338	missense	probably damaging	1.00
R0689:Pgghg	UTSW	7	140943278	missense	probably benign	0.08
R1696:Pgghg	UTSW	7	140945311	missense	possibly damaging	0.55
R1960:Pgghg	UTSW	7	140943347	missense	probably benign
R2110:Pgghg	UTSW	7	140943540	missense	possibly damaging	0.72
R3809:Pgghg	UTSW	7	140945295	missense	probably damaging	1.00
R3890:Pgghg	UTSW	7	140945703	missense	probably damaging	0.99
R3891:Pgghg	UTSW	7	140945703	missense	probably damaging	0.99
R4622:Pgghg	UTSW	7	140941496	splice site	probably null
R5009:Pgghg	UTSW	7	140943390	missense	probably benign
R5058:Pgghg	UTSW	7	140942542	missense	possibly damaging	0.46
R5215:Pgghg	UTSW	7	140946564	missense	possibly damaging	0.64
R6122:Pgghg	UTSW	7	140943395	missense	possibly damaging	0.87
R6269:Pgghg	UTSW	7	140946184	missense	probably damaging	0.97
R6301:Pgghg	UTSW	7	140946376	missense	probably damaging	1.00
R6562:Pgghg	UTSW	7	140946593	missense	probably benign	0.01
R7054:Pgghg	UTSW	7	140944718	missense	probably benign	0.15
R7241:Pgghg	UTSW	7	140945720	missense
R7320:Pgghg	UTSW	7	140943040	missense	probably benign	0.44
R7486:Pgghg	UTSW	7	140942480	missense	probably benign
R8859:Pgghg	UTSW	7	140945454	critical splice acceptor site	probably null
R9018:Pgghg	UTSW	7	140944666	missense	probably benign	0.05
R9647:Pgghg	UTSW	7	140946830	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TTCCAAGAGGATGGTGGCTG -3'
(R):5'- TAGGCAAACCCAAGTCCTTG -3'

Sequencing Primer
(F):5'- CAAGAGGATGGTGGCTGGGATG -3'
(R):5'- AGTCCTTGGCCAAAGCAG -3'

Posted On

2019-11-12