Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02519:Pgghg'

296891

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?

Possibly non essential (E-score: 0.293) question?

Stock #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

140941391-140947664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140944981 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 352 (T352A)

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: T352A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: T352A

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: T352A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: T352A

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,895,315	E370G	probably damaging	Het
Adamts13	A	T	2: 26,978,675	I224F	probably damaging	Het
Adamts17	A	G	7: 67,124,973	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,405,678	E75G	probably benign	Het
Arfgef1	G	T	1: 10,209,668	H225N	probably benign	Het
Arsi	A	G	18: 60,917,067	S341G	probably damaging	Het
Aspm	T	A	1: 139,461,927		probably benign	Het
Cacna1i	C	T	15: 80,361,874	R490*	probably null	Het
Cd33	C	T	7: 43,528,729		probably benign	Het
Clmn	T	C	12: 104,791,853	I135V	probably damaging	Het
Crebbp	A	T	16: 4,101,593	N795K	possibly damaging	Het
Dhps	A	G	8: 85,073,299	D126G	probably damaging	Het
Dlg2	G	T	7: 91,940,115	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,283,733	I897N	probably damaging	Het
Dzip3	A	G	16: 48,928,396	L1059S	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,638,528	I88T	probably damaging	Het
G3bp2	A	G	5: 92,066,524	V137A	possibly damaging	Het
Gnal	G	A	18: 67,088,765	E80K	unknown	Het
Hectd1	T	G	12: 51,769,111	S1393R	probably damaging	Het
Igsf6	T	C	7: 121,068,273	I173M	possibly damaging	Het
Il2ra	A	C	2: 11,683,090	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,627,280	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,611,586	Q480K	probably benign	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Magea6	T	C	X: 154,924,745	D105G	probably benign	Het
Nop53	C	A	7: 15,939,272		probably benign	Het
Olfr307	A	T	7: 86,335,581	F272I	probably benign	Het
Olfr338	T	C	2: 36,377,313	L179P	possibly damaging	Het
Setd2	T	C	9: 110,553,116	S1464P	probably damaging	Het
Sspo	C	A	6: 48,484,828	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,838,363	Y533*	probably null	Het
Thsd7b	A	G	1: 129,613,195	S346G	probably benign	Het
Tmem161b	T	A	13: 84,294,744	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,665,208	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,306,305	C214S	probably damaging	Het
Trim16	A	T	11: 62,834,079	E144V	possibly damaging	Het
Unc13d	T	C	11: 116,070,533	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,717,745	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,548,339	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,427,390	E28D	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
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

Posted On

2015-04-16