Mutagenetix > Incidental Mutations

Incidental Mutation 'R5215:Pgghg'

403418

Institutional Source

Beutler Lab

Gene Symbol

Pgghg

Ensembl Gene

ENSMUSG00000062031

Gene Name

protein glucosylgalactosylhydroxylysine glucosidase

Synonyms

5730511L01Rik, Athl1

MMRRC Submission

042788-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140941391-140947664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140946564 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 623 (V623A)

Ref Sequence

ENSEMBL: ENSMUSP00000128214 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000079403
AA Change: V623A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: V623A

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

possibly damaging
Transcript: ENSMUST00000164580
AA Change: V623A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: V623A

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

Meta Mutation Damage Score

0.4711

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,243,375	A73S	probably benign	Het
Aldoart2	G	A	12: 55,565,419	R43Q	probably benign	Het
Ano4	T	C	10: 89,317,303	H49R	possibly damaging	Het
Atic	T	C	1: 71,564,507	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,291,658	E244G	probably benign	Het
Cd164l2	C	A	4: 133,221,478	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,918,210	R156G	probably benign	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdk5	T	A	5: 24,419,461	N265I	probably benign	Het
Cfap69	G	T	5: 5,589,133	N262K	possibly damaging	Het
Chd6	C	T	2: 160,949,953	V2495M	probably damaging	Het
Cps1	T	A	1: 67,166,380	F521I	possibly damaging	Het
Crb2	A	G	2: 37,793,753	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795	D166G	probably damaging	Het
Dhodh	G	A	8: 109,606,343		probably benign	Het
Dnaaf5	G	A	5: 139,161,877	V399I	probably benign	Het
Dnah11	T	C	12: 118,157,361	T526A	probably benign	Het
Drosha	T	C	15: 12,885,133		probably benign	Het
Elfn2	T	A	15: 78,674,201	I49F	probably damaging	Het
Gabra1	T	C	11: 42,154,828	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,365,266	T85K	probably damaging	Het
Gimap8	A	T	6: 48,651,083	Y258F	possibly damaging	Het
Glmn	A	G	5: 107,561,886	C351R	probably benign	Het
Gm10032	T	C	14: 66,792,549		noncoding transcript	Het
Gm340	T	C	19: 41,585,932	I1042T	probably damaging	Het
Gorasp2	G	A	2: 70,689,254	A328T	probably benign	Het
Grin1	A	T	2: 25,303,907	H392Q	probably benign	Het
Gzmn	A	G	14: 56,167,862	V55A	probably damaging	Het
Herc4	T	A	10: 63,289,097	S497T	probably benign	Het
Hrc	A	T	7: 45,336,091	D222V	probably damaging	Het
Iars2	T	C	1: 185,294,769	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,240,701	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,263,133	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,157,683		noncoding transcript	Het
Krtap5-3	T	A	7: 142,202,237	C270*	probably null	Het
Lama3	A	G	18: 12,577,900	H3164R	probably damaging	Het
Mdn1	T	C	4: 32,741,418	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,453,983	H166L	probably benign	Het
Mx1	T	C	16: 97,448,360	N556D	possibly damaging	Het
Oca2	A	T	7: 56,295,498	R285*	probably null	Het
Olfr103	T	A	17: 37,336,813	I140F	probably benign	Het
Olfr1285	T	C	2: 111,409,286		noncoding transcript	Het
Olfr521	A	G	7: 99,767,510	E116G	probably damaging	Het
Olfr681	G	A	7: 105,126,564	H246Y	probably damaging	Het
Olfr952	A	T	9: 39,426,623	Y149*	probably null	Het
Pan3	A	G	5: 147,455,105		probably null	Het
Pard3	G	A	8: 127,378,264	V496M	probably damaging	Het
Pdcd2l	A	T	7: 34,192,889	V185D	possibly damaging	Het
Pigu	C	A	2: 155,335,329		probably benign	Het
Pkmyt1	G	A	17: 23,732,592	R40Q	probably benign	Het
Prag1	G	A	8: 36,099,889	A65T	probably benign	Het
Prkdc	C	A	16: 15,772,121	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,500,204	E1360K	probably benign	Het
Ptprt	C	T	2: 162,278,164	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,030,013	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,488,200	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,383,777		probably benign	Het
Slc22a16	T	A	10: 40,581,390	M209K	probably damaging	Het
Slf2	T	G	19: 44,948,037	L707R	probably damaging	Het
Son	T	A	16: 91,656,675	M770K	probably damaging	Het
Taf6l	T	C	19: 8,778,053		probably benign	Het
Tbc1d2	C	A	4: 46,614,006	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,153		probably benign	Het
Txndc16	A	T	14: 45,211,140		probably benign	Het
Ubr1	T	C	2: 120,904,044	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,846,485	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,126,913	S46P	probably benign	Het
Zwilch	T	G	9: 64,146,874	I490L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTGAACTTCTTGACTGGC -3'
(R):5'- AGACATGGACCAAGACATCTGG -3'

Sequencing Primer
(F):5'- AACTTCTTGACTGGCATGGG -3'
(R):5'- AGACATCTGGGTCACACGC -3'

Posted On

2016-07-22