Mutagenetix > Incidental Mutation

Incidental Mutation 'R6269:Pgghg'

507227

Institutional Source

Beutler Lab

Gene Symbol

Pgghg

Ensembl Gene

ENSMUSG00000062031

Gene Name

protein glucosylgalactosylhydroxylysine glucosidase

Synonyms

5730511L01Rik, Athl1

MMRRC Submission

044440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140521304-140527577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140526097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 563 (N563K)

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 damaging
Transcript: ENSMUST00000079403
AA Change: N563K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: N563K

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

probably damaging
Transcript: ENSMUST00000164580
AA Change: N563K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: N563K

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,941,033 (GRCm39)	I609N	unknown	Het
Ano10	A	T	9: 122,090,308 (GRCm39)	I277N	probably damaging	Het
Ap2b1	A	G	11: 83,237,499 (GRCm39)	D483G	probably damaging	Het
As3mt	T	A	19: 46,708,391 (GRCm39)	F226Y	probably damaging	Het
Atp10a	G	A	7: 58,453,487 (GRCm39)	R855H	possibly damaging	Het
Bin3	T	A	14: 70,374,611 (GRCm39)	H213Q	probably benign	Het
Bora	T	C	14: 99,311,103 (GRCm39)	C512R	probably damaging	Het
Camk2b	T	A	11: 5,928,497 (GRCm39)	D414V	probably damaging	Het
Ccdc27	A	T	4: 154,122,179 (GRCm39)	L233Q	unknown	Het
Ccdc73	T	C	2: 104,737,978 (GRCm39)	S25P	probably damaging	Het
Cenpf	G	A	1: 189,392,117 (GRCm39)	H572Y	probably benign	Het
Chil4	A	G	3: 106,111,487 (GRCm39)	V209A	probably damaging	Het
Clstn1	T	C	4: 149,728,524 (GRCm39)	V650A	probably benign	Het
Cox6a2	T	A	7: 127,805,437 (GRCm39)	S11C	probably benign	Het
Csf1	T	C	3: 107,656,317 (GRCm39)	E238G	probably benign	Het
Cyp2c23	T	A	19: 44,017,626 (GRCm39)	M1L	unknown	Het
Cyp4a10	T	A	4: 115,381,509 (GRCm39)	M191K	probably damaging	Het
Cyp4a14	A	G	4: 115,348,328 (GRCm39)	V383A	possibly damaging	Het
D130052B06Rik	T	G	11: 33,573,916 (GRCm39)	V171G	possibly damaging	Het
Dlgap2	A	G	8: 14,872,369 (GRCm39)	T617A	probably benign	Het
Dyrk4	T	A	6: 126,863,690 (GRCm39)	I351F	probably damaging	Het
Epg5	T	C	18: 77,991,585 (GRCm39)	V94A	probably benign	Het
Fam111a	A	G	19: 12,565,807 (GRCm39)	T519A	probably benign	Het
Gdpd4	A	G	7: 97,623,669 (GRCm39)	S314G	probably damaging	Het
Gm9758	T	A	5: 14,962,274 (GRCm39)	K111N	possibly damaging	Het
Gpr137b	A	T	13: 13,538,096 (GRCm39)	V285E	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Itgal	T	A	7: 126,929,389 (GRCm39)	L1102Q	probably null	Het
Kctd19	T	A	8: 106,121,992 (GRCm39)	Y185F	possibly damaging	Het
Kif5b	A	G	18: 6,223,558 (GRCm39)	L317P	possibly damaging	Het
Klhl42	C	A	6: 146,993,805 (GRCm39)	A259E	probably damaging	Het
Lrrc2	A	G	9: 110,810,017 (GRCm39)	D351G	probably damaging	Het
Med12l	A	G	3: 59,135,243 (GRCm39)	E797G	probably damaging	Het
Mink1	A	G	11: 70,489,813 (GRCm39)	E63G	probably damaging	Het
Nek9	T	C	12: 85,379,103 (GRCm39)		probably null	Het
Or12e8	A	T	2: 87,677,218 (GRCm39)	H201L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp6	G	A	9: 59,557,295 (GRCm39)	V627I	probably benign	Het
Pclo	C	T	5: 14,572,108 (GRCm39)	Q498*	probably null	Het
Pdlim5	T	C	3: 142,018,086 (GRCm39)	T170A	possibly damaging	Het
Pgap1	A	T	1: 54,587,167 (GRCm39)	Y136*	probably null	Het
Plxnb2	A	G	15: 89,044,916 (GRCm39)	M1143T	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prc1	G	A	7: 79,959,175 (GRCm39)	R381Q	probably damaging	Het
Psph	A	T	5: 129,843,529 (GRCm39)	I175N	probably damaging	Het
Rbbp8nl	T	A	2: 179,923,305 (GRCm39)	K131*	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sde2	G	A	1: 180,683,371 (GRCm39)	V42I	probably benign	Het
Slc25a3	G	A	10: 90,952,963 (GRCm39)	R314*	probably null	Het
Spag9	A	G	11: 93,935,333 (GRCm39)	N48S	probably benign	Het
Srp54b	T	C	12: 55,302,757 (GRCm39)	M351T	possibly damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf2	A	G	6: 42,604,342 (GRCm39)	L679P	probably damaging	Het
Tnrc6b	T	A	15: 80,764,944 (GRCm39)	N815K	probably benign	Het
Usp17la	A	T	7: 104,509,557 (GRCm39)	Q54L	possibly damaging	Het
Vmn2r92	T	A	17: 18,387,036 (GRCm39)	I125K	probably benign	Het
Xrra1	T	C	7: 99,566,679 (GRCm39)	Y732H	probably damaging	Het
Zfp131	A	G	13: 120,227,941 (GRCm39)	S603P	possibly damaging	Het
Zfp28	G	T	7: 6,396,612 (GRCm39)	S349I	probably benign	Het

Other mutations in Pgghg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Pgghg	APN	7	140,525,264 (GRCm39)	critical splice donor site	probably null
IGL00848:Pgghg	APN	7	140,522,317 (GRCm39)	missense	probably damaging	1.00
IGL01903:Pgghg	APN	7	140,526,741 (GRCm39)	missense	probably benign	0.03
IGL02060:Pgghg	APN	7	140,526,546 (GRCm39)	missense	probably benign	0.30
IGL02475:Pgghg	APN	7	140,525,633 (GRCm39)	missense
IGL02519:Pgghg	APN	7	140,524,894 (GRCm39)	missense	possibly damaging	0.94
IGL02612:Pgghg	APN	7	140,526,251 (GRCm39)	missense	probably damaging	1.00
R0689:Pgghg	UTSW	7	140,523,191 (GRCm39)	missense	probably benign	0.08
R1696:Pgghg	UTSW	7	140,525,224 (GRCm39)	missense	possibly damaging	0.55
R1960:Pgghg	UTSW	7	140,523,260 (GRCm39)	missense	probably benign
R2110:Pgghg	UTSW	7	140,523,453 (GRCm39)	missense	possibly damaging	0.72
R3809:Pgghg	UTSW	7	140,525,208 (GRCm39)	missense	probably damaging	1.00
R3890:Pgghg	UTSW	7	140,525,616 (GRCm39)	missense	probably damaging	0.99
R3891:Pgghg	UTSW	7	140,525,616 (GRCm39)	missense	probably damaging	0.99
R4622:Pgghg	UTSW	7	140,521,409 (GRCm39)	splice site	probably null
R5009:Pgghg	UTSW	7	140,523,303 (GRCm39)	missense	probably benign
R5058:Pgghg	UTSW	7	140,522,455 (GRCm39)	missense	possibly damaging	0.46
R5215:Pgghg	UTSW	7	140,526,477 (GRCm39)	missense	possibly damaging	0.64
R6122:Pgghg	UTSW	7	140,523,308 (GRCm39)	missense	possibly damaging	0.87
R6301:Pgghg	UTSW	7	140,526,289 (GRCm39)	missense	probably damaging	1.00
R6562:Pgghg	UTSW	7	140,526,506 (GRCm39)	missense	probably benign	0.01
R7054:Pgghg	UTSW	7	140,524,631 (GRCm39)	missense	probably benign	0.15
R7241:Pgghg	UTSW	7	140,525,633 (GRCm39)	missense
R7320:Pgghg	UTSW	7	140,522,953 (GRCm39)	missense	probably benign	0.44
R7486:Pgghg	UTSW	7	140,522,393 (GRCm39)	missense	probably benign
R7665:Pgghg	UTSW	7	140,525,382 (GRCm39)	missense	probably damaging	1.00
R8859:Pgghg	UTSW	7	140,525,367 (GRCm39)	critical splice acceptor site	probably null
R9018:Pgghg	UTSW	7	140,524,579 (GRCm39)	missense	probably benign	0.05
R9647:Pgghg	UTSW	7	140,526,743 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ACTTATGAGGCCGTGACATCC -3'
(R):5'- GAAGTTCACTGCACCAGACC -3'

Sequencing Primer
(F):5'- CCTGCTATGACCTGGGTGAG -3'
(R):5'- AGACCCGTCTGCATTCTCCG -3'

Posted On

2018-03-15