Incidental Mutation 'IGL02519:Pgghg'
ID 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
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL02519
Quality Score
Status
Chromosome 7
Chromosomal Location 140521304-140527577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140524894 bp (GRCm39)
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]
AlphaFold Q8BP56
Predicted Effect probably benign
Transcript: ENSMUST00000026562
SMART Domains Protein: ENSMUSP00000026562
Gene: ENSMUSG00000025489

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 279 496 3.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168084
Predicted Effect probably benign
Transcript: ENSMUST00000211129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169736
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D probably damaging Het
Other mutations in Pgghg
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6269:Pgghg UTSW 7 140,526,097 (GRCm39) missense probably damaging 0.97
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
Posted On 2015-04-16