Incidental Mutation 'IGL02876:Gpatch3'
ID 406218
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 # IGL02876
Quality Score
Status
Chromosome 4
Chromosomal Location 133302056-133311553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133307995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 363 (V363E)
Ref Sequence ENSEMBL: ENSMUSP00000030662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]
AlphaFold Q8BIY1
Predicted Effect probably benign
Transcript: ENSMUST00000030661
SMART Domains Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848

DomainStartEndE-ValueType
Pfam:ATP_bind_1 14 261 6.6e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030662
AA Change: V363E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850
AA Change: V363E

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 probably benign
Transcript: ENSMUST00000105899
SMART Domains Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848

DomainStartEndE-ValueType
Pfam:ATP_bind_1 14 117 9.2e-42 PFAM
Pfam:ATP_bind_1 115 238 4.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154648
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,282,343 (GRCm39) Y150H probably damaging Het
Abcb5 A G 12: 118,883,576 (GRCm39) V564A probably damaging Het
Adamts15 A T 9: 30,815,818 (GRCm39) N679K probably damaging Het
Angpt1 T G 15: 42,290,373 (GRCm39) D497A possibly damaging Het
Asap2 A G 12: 21,308,164 (GRCm39) K849R probably benign Het
Aspm T C 1: 139,401,391 (GRCm39) V1137A probably damaging Het
Atp12a A G 14: 56,610,746 (GRCm39) I297V probably benign Het
Atp2a2 A G 5: 122,604,071 (GRCm39) V454A probably benign Het
Carmil1 T A 13: 24,338,651 (GRCm39) probably benign Het
Csmd2 A T 4: 128,215,128 (GRCm39) K517* probably null Het
Csmd3 A T 15: 47,469,492 (GRCm39) probably benign Het
Cyp2d11 T A 15: 82,273,697 (GRCm39) Q427L possibly damaging Het
Eml5 C T 12: 98,825,100 (GRCm39) V706M probably damaging Het
Entpd8 A C 2: 24,975,072 (GRCm39) S428R probably benign Het
Gm10283 T C 8: 60,954,253 (GRCm39) probably benign Het
Hoxb5 T A 11: 96,194,594 (GRCm39) M52K probably damaging Het
Ift52 T C 2: 162,878,627 (GRCm39) V307A probably benign Het
Igkv1-115 T C 6: 68,138,424 (GRCm39) noncoding transcript Het
Kdm5a T C 6: 120,367,605 (GRCm39) probably benign Het
Lama1 T A 17: 68,057,687 (GRCm39) probably null Het
Lrp6 G A 6: 134,433,077 (GRCm39) P1418L probably benign Het
Mill2 T C 7: 18,590,432 (GRCm39) F156L probably damaging Het
Mnat1 A G 12: 73,217,378 (GRCm39) R85G probably damaging Het
Myrip A T 9: 120,261,740 (GRCm39) D451V probably damaging Het
Or1e1f A T 11: 73,855,539 (GRCm39) Y35F possibly damaging Het
Pdzph1 C A 17: 59,281,064 (GRCm39) S406I probably benign Het
Ptprb A G 10: 116,184,116 (GRCm39) probably benign Het
Rxfp4 T A 3: 88,559,742 (GRCm39) R236S possibly damaging Het
Ryr2 T C 13: 11,722,679 (GRCm39) M2604V probably benign Het
Setd1a G A 7: 127,377,673 (GRCm39) probably benign Het
Spata33 A T 8: 123,948,719 (GRCm39) H88L probably damaging Het
Spcs3 A T 8: 54,979,486 (GRCm39) N98K probably damaging Het
Srgap3 A G 6: 112,748,414 (GRCm39) S413P probably damaging Het
Stap2 T C 17: 56,306,961 (GRCm39) R239G probably benign Het
Surf6 A G 2: 26,782,638 (GRCm39) Y230H probably damaging Het
Tasp1 C T 2: 139,676,283 (GRCm39) V382M probably benign Het
Tnc G T 4: 63,933,338 (GRCm39) A642E possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r110 T A 17: 20,794,558 (GRCm39) T704S probably damaging Het
Vtcn1 A T 3: 100,791,145 (GRCm39) D61V probably damaging Het
Zc3h12d G A 10: 7,738,364 (GRCm39) M223I probably damaging Het
Zfp592 T A 7: 80,687,875 (GRCm39) S934T probably benign Het
Other mutations in Gpatch3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Gpatch3 APN 4 133,308,028 (GRCm39) unclassified probably benign
IGL03181:Gpatch3 APN 4 133,305,433 (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