Incidental Mutation 'PIT4585001:Gpatch3'
ID556591
Institutional Source Beutler Lab
Gene Symbol Gpatch3
Ensembl Gene ENSMUSG00000028850
Gene NameG patch domain containing 3
SynonymsGpatc3, D930035B09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #PIT4585001 (G1)
Quality Score207.009
Status Not validated
Chromosome4
Chromosomal Location133574745-133584243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 133583086 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 447 (H447Q)
Ref Sequence ENSEMBL: ENSMUSP00000030662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]
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: H447Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850
AA Change: H447Q

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
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.2%
  • 10x: 86.5%
  • 20x: 76.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurka T C 2: 172,357,197 M318V probably benign Het
Cacna2d1 T A 5: 16,326,344 D560E probably damaging Het
Ccdc148 T A 2: 58,982,976 T202S probably benign Het
Ccdc155 C T 7: 45,200,271 G76D probably benign Het
Cdc42bpb T C 12: 111,304,978 D1149G probably damaging Het
Clasp1 T A 1: 118,462,555 N156K probably damaging Het
Cox18 G A 5: 90,217,575 T255I possibly damaging Het
Cse1l A G 2: 166,941,474 T783A probably damaging Het
Dnajc16 T C 4: 141,764,685 Y609C probably damaging Het
Doc2g A G 19: 4,006,630 T339A probably benign Het
Eif5a T C 11: 69,918,070 probably benign Het
Epha3 A G 16: 63,566,577 probably null Het
Esco1 A T 18: 10,594,355 C310* probably null Het
Fam208b G A 13: 3,574,979 A1657V possibly damaging Het
Fam222a A G 5: 114,611,040 Y99C probably damaging Het
Fzd2 T C 11: 102,605,747 L339P probably damaging Het
Gfral A T 9: 76,197,294 N145K probably damaging Het
Gga1 T A 15: 78,893,790 N618K probably benign Het
Gpn1 A T 5: 31,509,403 R346* probably null Het
Gsg1 T C 6: 135,237,560 E317G probably benign Het
Gsk3b A G 16: 38,184,454 N129S probably damaging Het
Hmg20b G T 10: 81,348,955 D94E possibly damaging Het
Klhdc9 T A 1: 171,359,818 H204L possibly damaging Het
Klhl24 A G 16: 20,106,888 I55M probably benign Het
Kmt2c T C 5: 25,315,106 D2002G probably benign Het
Lama4 A G 10: 39,074,746 N1015S probably damaging Het
Lpp T C 16: 24,761,947 C263R probably benign Het
Lrp1b T C 2: 41,269,204 I1689V Het
Mipep C A 14: 60,784,835 Q50K probably benign Het
Mx1 T C 16: 97,456,254 D101G probably benign Het
Nabp2 C G 10: 128,408,807 E37Q possibly damaging Het
Nme6 A G 9: 109,842,036 I115V possibly damaging Het
Nup93 A T 8: 94,243,727 T85S probably benign Het
Oit3 T A 10: 59,431,013 I224F possibly damaging Het
Parp14 T C 16: 35,858,605 K331R probably benign Het
Pls1 T A 9: 95,761,390 T519S probably benign Het
Rcn3 A G 7: 45,086,694 F197L probably benign Het
Rnf213 C T 11: 119,458,392 T3773I Het
Rprd1b A T 2: 158,047,957 I153L probably benign Het
Scel A G 14: 103,592,368 D462G possibly damaging Het
Sh3bp1 C T 15: 78,910,076 S548L possibly damaging Het
Sim1 T A 10: 50,984,188 Y715* probably null Het
Slc18a2 A T 19: 59,293,861 Q500L possibly damaging Het
Slc5a8 T G 10: 88,886,503 M66R probably damaging Het
Slco1a6 T C 6: 142,109,520 T233A probably damaging Het
Smu1 T C 4: 40,739,623 T396A probably benign Het
Tas2r104 T C 6: 131,685,558 T63A possibly damaging Het
Top2a C T 11: 99,001,373 A1088T probably benign Het
Ucp1 T C 8: 83,293,948 F129S probably damaging Het
Unc13b T A 4: 43,091,298 D41E probably benign Het
Usp10 T G 8: 119,954,892 V696G probably benign Het
Xylt2 C T 11: 94,666,240 V745M probably damaging Het
Zbtb49 A T 5: 38,216,476 N41K probably damaging Het
Zfp109 T A 7: 24,229,354 D218V probably benign Het
Zfp420 G A 7: 29,876,005 R550Q probably benign Het
Other mutations in Gpatch3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Gpatch3 APN 4 133580717 unclassified probably benign
IGL02876:Gpatch3 APN 4 133580684 missense probably damaging 1.00
IGL03181:Gpatch3 APN 4 133578122 missense probably damaging 1.00
ANU23:Gpatch3 UTSW 4 133578302 small deletion probably benign
R0358:Gpatch3 UTSW 4 133577904 splice site probably null
R0383:Gpatch3 UTSW 4 133578146 missense probably damaging 1.00
R1706:Gpatch3 UTSW 4 133575173 nonsense probably null
R2269:Gpatch3 UTSW 4 133583807 missense possibly damaging 0.83
R3788:Gpatch3 UTSW 4 133575168 missense possibly damaging 0.93
R4030:Gpatch3 UTSW 4 133578147 missense possibly damaging 0.94
R4334:Gpatch3 UTSW 4 133582481 missense probably damaging 1.00
R4718:Gpatch3 UTSW 4 133582544 missense probably benign 0.37
R5036:Gpatch3 UTSW 4 133578150 missense probably damaging 1.00
R6032:Gpatch3 UTSW 4 133578306 missense probably benign 0.06
R6032:Gpatch3 UTSW 4 133578306 missense probably benign 0.06
R6572:Gpatch3 UTSW 4 133574880 missense probably damaging 1.00
R6923:Gpatch3 UTSW 4 133582525 missense probably damaging 1.00
R7106:Gpatch3 UTSW 4 133578203 missense probably benign 0.05
R7572:Gpatch3 UTSW 4 133574806 missense probably benign 0.01
R7737:Gpatch3 UTSW 4 133575096 missense probably benign 0.01
RF025:Gpatch3 UTSW 4 133578310 frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATTCCTCCTGCTCCAAGGAG -3'
(R):5'- CCCGTGATCCTTTAAGTTGTAGG -3'

Sequencing Primer
(F):5'- TAGGCTGGCCTTGAACTCAGAAATC -3'
(R):5'- CGTGATCCTTTAAGTTGTAGGATTGG -3'
Posted On2019-06-07