Incidental Mutation 'IGL02586:Ggact'
ID 299539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ggact
Ensembl Gene ENSMUSG00000041625
Gene Name gamma-glutamylamine cyclotransferase
Synonyms A2ld1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02586
Quality Score
Status
Chromosome 14
Chromosomal Location 123128272-123150901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123128942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 91 (T91I)
Ref Sequence ENSEMBL: ENSMUSP00000123721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038075] [ENSMUST00000038374] [ENSMUST00000110679] [ENSMUST00000152383] [ENSMUST00000160401] [ENSMUST00000162164] [ENSMUST00000161322]
AlphaFold Q923B0
Predicted Effect possibly damaging
Transcript: ENSMUST00000038075
AA Change: T91I

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037278
Gene: ENSMUSG00000041625
AA Change: T91I

DomainStartEndE-ValueType
Pfam:GGACT 4 135 3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038374
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 58 167 2.1e-48 PFAM
Pfam:ATP-grasp_4 169 351 3.8e-15 PFAM
Pfam:RimK 170 372 5.6e-7 PFAM
Pfam:CPSase_L_D2 172 381 2.8e-87 PFAM
Pfam:ATP-grasp 181 351 9.8e-10 PFAM
Pfam:Dala_Dala_lig_C 192 349 7.7e-12 PFAM
Biotin_carb_C 393 501 4.27e-46 SMART
Pfam:Biotin_lipoyl 656 723 1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110679
SMART Domains Protein: ENSMUSP00000135487
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:AIG2 4 71 3.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140517
Predicted Effect probably benign
Transcript: ENSMUST00000152383
SMART Domains Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650

DomainStartEndE-ValueType
Pfam:SLT_beta 32 106 3.4e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160401
AA Change: T91I

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124954
Gene: ENSMUSG00000041625
AA Change: T91I

DomainStartEndE-ValueType
Pfam:AIG2 4 118 7.1e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162164
AA Change: T91I

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123721
Gene: ENSMUSG00000041625
AA Change: T91I

DomainStartEndE-ValueType
Pfam:AIG2 4 103 9.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161322
Predicted Effect probably benign
Transcript: ENSMUST00000177312
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,983 (GRCm39) I1949V possibly damaging Het
Anapc2 T A 2: 25,175,108 (GRCm39) M742K probably benign Het
Arhgef12 T A 9: 42,917,200 (GRCm39) K380* probably null Het
Armc1 G T 3: 19,188,192 (GRCm39) probably benign Het
Bltp1 G A 3: 37,098,757 (GRCm39) W4626* probably null Het
Diaph3 A T 14: 87,223,512 (GRCm39) L323* probably null Het
Fbxo11 C T 17: 88,318,711 (GRCm39) probably benign Het
Flywch1 C T 17: 23,974,676 (GRCm39) A655T probably benign Het
Frmpd1 A G 4: 45,285,160 (GRCm39) D1327G probably damaging Het
Gm10250 T A 15: 5,150,412 (GRCm39) probably benign Het
Gsdmc4 T C 15: 63,765,641 (GRCm39) S303G probably damaging Het
Helt T C 8: 46,746,276 (GRCm39) E15G probably damaging Het
Kcnf1 T A 12: 17,226,144 (GRCm39) S26C probably benign Het
Lilra6 T C 7: 3,911,819 (GRCm39) T280A probably benign Het
Lipo3 A T 19: 33,559,539 (GRCm39) D110E possibly damaging Het
Mepe C A 5: 104,485,316 (GRCm39) T152N probably benign Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,260,810 (GRCm39) D121G possibly damaging Het
Or6c214 A G 10: 129,590,524 (GRCm39) I265T possibly damaging Het
Peg3 T C 7: 6,713,068 (GRCm39) D718G probably benign Het
Phf2 A T 13: 48,967,334 (GRCm39) probably benign Het
Pigc A T 1: 161,798,503 (GRCm39) I162F probably benign Het
Raf1 A G 6: 115,597,267 (GRCm39) L11P probably damaging Het
Rlf T C 4: 121,007,261 (GRCm39) Y573C probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf149 T G 1: 39,604,296 (GRCm39) Q189P probably benign Het
Slc11a1 T C 1: 74,424,291 (GRCm39) probably benign Het
Slc22a12 C T 19: 6,590,487 (GRCm39) M234I probably benign Het
Slc28a1 A T 7: 80,814,167 (GRCm39) I455F probably benign Het
Slc35f5 T G 1: 125,512,273 (GRCm39) L358V probably damaging Het
Slc47a1 A T 11: 61,235,147 (GRCm39) V562D probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ushbp1 T C 8: 71,841,394 (GRCm39) probably benign Het
Vmn1r88 T A 7: 12,911,735 (GRCm39) Y30* probably null Het
Vmn2r27 A T 6: 124,201,434 (GRCm39) Y174* probably null Het
Wwox T C 8: 115,438,947 (GRCm39) Y338H possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zup1 A T 10: 33,811,261 (GRCm39) probably benign Het
Other mutations in Ggact
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ggact APN 14 123,129,167 (GRCm39) missense probably damaging 1.00
R4715:Ggact UTSW 14 123,129,047 (GRCm39) missense possibly damaging 0.93
R4827:Ggact UTSW 14 123,128,987 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16