Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Pgghg'

294899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgghg

Ensembl Gene

ENSMUSG00000062031

Gene Name

protein glucosylgalactosylhydroxylysine glucosidase

Synonyms

5730511L01Rik, Athl1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

140941391-140947664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140945720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 479 (S479P)

Ref Sequence

ENSEMBL: ENSMUSP00000128214 (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 benign
Transcript: ENSMUST00000079403
AA Change: S479P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: S479P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164337

SMART Domains

Protein: ENSMUSP00000127119
Gene: ENSMUSG00000062031

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_65m	219	464	3.8e-65	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: S479P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169736

Predicted Effect

probably benign
Transcript: ENSMUST00000211129

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	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
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
R7665:Pgghg	UTSW	7	140945469	missense	probably damaging	1.00
R8859:Pgghg	UTSW	7	140945454	critical splice acceptor site	probably null
R9018:Pgghg	UTSW	7	140944666	missense	probably benign	0.05

Posted On

2015-04-16