Incidental Mutation 'IGL02476:Gpatch8'
ID294967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch8
Ensembl Gene ENSMUSG00000034621
Gene NameG patch domain containing 8
SynonymsENSMUSG00000075516, Fbm1, 5430405G24Rik, Gpatc8
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock #IGL02476
Quality Score
Status
Chromosome11
Chromosomal Location102475915-102556392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102478591 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 1374 (S1374P)
Ref Sequence ENSEMBL: ENSMUSP00000120649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143842]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069673
Predicted Effect probably damaging
Transcript: ENSMUST00000143842
AA Change: S1374P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: S1374P

DomainStartEndE-ValueType
G_patch 38 84 6.03e-12 SMART
coiled coil region 89 130 N/A INTRINSIC
ZnF_C2H2 136 160 6.4e0 SMART
coiled coil region 183 209 N/A INTRINSIC
low complexity region 224 234 N/A INTRINSIC
low complexity region 235 246 N/A INTRINSIC
internal_repeat_1 307 391 1.55e-5 PROSPERO
low complexity region 474 490 N/A INTRINSIC
internal_repeat_1 583 658 1.55e-5 PROSPERO
low complexity region 666 687 N/A INTRINSIC
low complexity region 691 720 N/A INTRINSIC
low complexity region 722 753 N/A INTRINSIC
low complexity region 761 772 N/A INTRINSIC
low complexity region 798 820 N/A INTRINSIC
low complexity region 829 885 N/A INTRINSIC
low complexity region 887 980 N/A INTRINSIC
low complexity region 988 1010 N/A INTRINSIC
low complexity region 1166 1183 N/A INTRINSIC
low complexity region 1208 1217 N/A INTRINSIC
low complexity region 1326 1342 N/A INTRINSIC
low complexity region 1345 1361 N/A INTRINSIC
low complexity region 1379 1404 N/A INTRINSIC
low complexity region 1438 1452 N/A INTRINSIC
low complexity region 1463 1490 N/A INTRINSIC
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 contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,281,524 probably benign Het
Birc6 A G 17: 74,696,391 E4752G possibly damaging Het
Chd1 C T 17: 15,734,273 P468S probably damaging Het
Cnot3 A G 7: 3,658,068 D556G probably benign Het
Csnk1d A G 11: 120,972,512 Y201H probably damaging Het
Dhtkd1 A G 2: 5,930,906 S132P possibly damaging Het
Dhx58 G T 11: 100,702,264 Q206K probably benign Het
Dio1 C A 4: 107,292,377 V195F probably damaging Het
Dio3 T C 12: 110,279,482 V84A probably benign Het
Extl3 T C 14: 65,077,244 K163R probably benign Het
Fat2 A T 11: 55,311,124 S375T probably damaging Het
Fbrs A G 7: 127,487,669 D73G probably damaging Het
Fnip1 A G 11: 54,499,567 probably benign Het
Frmpd4 A G X: 167,497,855 V343A probably damaging Het
Gcc1 T C 6: 28,420,469 D283G probably benign Het
Ghr T C 15: 3,320,046 D550G probably damaging Het
Glycam1 G A 15: 103,562,880 probably benign Het
Grm1 A T 10: 10,689,453 M1037K probably benign Het
Gtpbp3 T C 8: 71,492,598 L438P probably damaging Het
Ifi205 G T 1: 174,015,061 N356K probably damaging Het
Ifi206 A G 1: 173,481,566 L288P probably benign Het
Ift57 T C 16: 49,763,889 V291A probably benign Het
Kif13a A C 13: 46,785,296 C166G probably damaging Het
Lypd6 A G 2: 50,190,728 T143A possibly damaging Het
Mtus2 G A 5: 148,077,938 A514T probably benign Het
Neu2 T C 1: 87,596,952 W220R probably damaging Het
Notch3 T C 17: 32,158,638 S155G possibly damaging Het
Nrxn2 A G 19: 6,454,985 E286G probably damaging Het
Onecut3 A G 10: 80,513,890 E406G probably benign Het
Oog2 T A 4: 144,195,229 D236E probably benign Het
Pck1 A G 2: 173,158,282 H502R probably benign Het
Pld1 A G 3: 28,048,039 Y313C probably damaging Het
Rhox3f A T X: 37,581,539 probably benign Het
Rpl34 A G 3: 130,726,964 probably benign Het
Sema4c T C 1: 36,555,950 K31E probably damaging Het
Sept11 T C 5: 93,148,584 probably null Het
Slc4a9 T A 18: 36,535,445 probably null Het
Snrnp200 T A 2: 127,217,488 S434T probably benign Het
Snx13 A T 12: 35,086,941 I134F probably damaging Het
Syt2 T C 1: 134,747,631 S407P probably benign Het
Tbc1d19 T C 5: 53,889,413 probably null Het
Tbc1d32 G T 10: 56,198,542 Q192K possibly damaging Het
Ubr4 T A 4: 139,421,249 C1681* probably null Het
Vmn1r43 T A 6: 89,870,061 I148F possibly damaging Het
Vwa8 T C 14: 78,925,341 V187A possibly damaging Het
Wdr78 T A 4: 103,087,348 I3L possibly damaging Het
Other mutations in Gpatch8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Gpatch8 APN 11 102478878 missense probably damaging 1.00
IGL00590:Gpatch8 APN 11 102480549 missense unknown
IGL00835:Gpatch8 APN 11 102478549 missense probably damaging 1.00
IGL00971:Gpatch8 APN 11 102479917 missense unknown
IGL01395:Gpatch8 APN 11 102480708 missense unknown
IGL02386:Gpatch8 APN 11 102508157 missense unknown
IGL02809:Gpatch8 APN 11 102487590 missense unknown
IGL02985:Gpatch8 APN 11 102481510 missense unknown
IGL03013:Gpatch8 APN 11 102508197 missense unknown
PIT4810001:Gpatch8 UTSW 11 102481842 missense unknown
R0332:Gpatch8 UTSW 11 102481842 missense unknown
R0464:Gpatch8 UTSW 11 102480886 missense unknown
R0710:Gpatch8 UTSW 11 102481933 missense unknown
R0734:Gpatch8 UTSW 11 102481400 missense unknown
R1458:Gpatch8 UTSW 11 102481229 missense unknown
R1919:Gpatch8 UTSW 11 102508142 critical splice donor site probably null
R2007:Gpatch8 UTSW 11 102500831 missense unknown
R2495:Gpatch8 UTSW 11 102478481 missense probably damaging 1.00
R2881:Gpatch8 UTSW 11 102479917 missense unknown
R2939:Gpatch8 UTSW 11 102508184 missense unknown
R4672:Gpatch8 UTSW 11 102478958 missense probably damaging 1.00
R4903:Gpatch8 UTSW 11 102480133 missense unknown
R4931:Gpatch8 UTSW 11 102481224 missense unknown
R5230:Gpatch8 UTSW 11 102479578 missense probably damaging 1.00
R5288:Gpatch8 UTSW 11 102508227 intron probably null
R5384:Gpatch8 UTSW 11 102508227 intron probably null
R5386:Gpatch8 UTSW 11 102508227 intron probably null
R5564:Gpatch8 UTSW 11 102538285 missense unknown
R5668:Gpatch8 UTSW 11 102500867 missense unknown
R5954:Gpatch8 UTSW 11 102480941 missense unknown
R5966:Gpatch8 UTSW 11 102480232 missense unknown
R6018:Gpatch8 UTSW 11 102480915 missense unknown
R6176:Gpatch8 UTSW 11 102487524 missense unknown
R6388:Gpatch8 UTSW 11 102478488 missense probably damaging 1.00
R7153:Gpatch8 UTSW 11 102480188 small insertion probably benign
R7155:Gpatch8 UTSW 11 102480188 small insertion probably benign
R7163:Gpatch8 UTSW 11 102480188 small insertion probably benign
R7238:Gpatch8 UTSW 11 102478528 missense probably damaging 1.00
R7407:Gpatch8 UTSW 11 102479830 missense unknown
Z1088:Gpatch8 UTSW 11 102480945 missense unknown
Posted On2015-04-16