Incidental Mutation 'IGL03181:Gpatch3'
ID 412238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch3
Ensembl Gene ENSMUSG00000028850
Gene Name G patch domain containing 3
Synonyms Gpatc3, D930035B09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL03181
Quality Score
Status
Chromosome 4
Chromosomal Location 133302056-133311553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133305433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 223 (F223L)
Ref Sequence ENSEMBL: ENSMUSP00000030662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030662]
AlphaFold Q8BIY1
Predicted Effect probably damaging
Transcript: ENSMUST00000030662
AA Change: F223L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850
AA Change: F223L

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
low complexity region 274 305 N/A INTRINSIC
G_patch 409 457 1.3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154648
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Gpatch3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Gpatch3 APN 4 133,308,028 (GRCm39) unclassified probably benign
IGL02876:Gpatch3 APN 4 133,307,995 (GRCm39) missense probably damaging 1.00
ANU23:Gpatch3 UTSW 4 133,305,613 (GRCm39) small deletion probably benign
PIT4585001:Gpatch3 UTSW 4 133,310,397 (GRCm39) missense probably damaging 0.99
R0358:Gpatch3 UTSW 4 133,305,215 (GRCm39) splice site probably null
R0383:Gpatch3 UTSW 4 133,305,457 (GRCm39) missense probably damaging 1.00
R1706:Gpatch3 UTSW 4 133,302,484 (GRCm39) nonsense probably null
R2269:Gpatch3 UTSW 4 133,311,118 (GRCm39) missense possibly damaging 0.83
R3788:Gpatch3 UTSW 4 133,302,479 (GRCm39) missense possibly damaging 0.93
R4030:Gpatch3 UTSW 4 133,305,458 (GRCm39) missense possibly damaging 0.94
R4334:Gpatch3 UTSW 4 133,309,792 (GRCm39) missense probably damaging 1.00
R4718:Gpatch3 UTSW 4 133,309,855 (GRCm39) missense probably benign 0.37
R5036:Gpatch3 UTSW 4 133,305,461 (GRCm39) missense probably damaging 1.00
R6032:Gpatch3 UTSW 4 133,305,617 (GRCm39) missense probably benign 0.06
R6032:Gpatch3 UTSW 4 133,305,617 (GRCm39) missense probably benign 0.06
R6572:Gpatch3 UTSW 4 133,302,191 (GRCm39) missense probably damaging 1.00
R6923:Gpatch3 UTSW 4 133,309,836 (GRCm39) missense probably damaging 1.00
R7106:Gpatch3 UTSW 4 133,305,514 (GRCm39) missense probably benign 0.05
R7572:Gpatch3 UTSW 4 133,302,117 (GRCm39) missense probably benign 0.01
R7737:Gpatch3 UTSW 4 133,302,407 (GRCm39) missense probably benign 0.01
R7937:Gpatch3 UTSW 4 133,310,308 (GRCm39) missense probably damaging 0.98
R8300:Gpatch3 UTSW 4 133,307,140 (GRCm39) missense probably damaging 1.00
R9541:Gpatch3 UTSW 4 133,305,595 (GRCm39) missense probably benign 0.01
RF025:Gpatch3 UTSW 4 133,305,621 (GRCm39) frame shift probably null
Posted On 2016-08-02