Incidental Mutation 'R4931:Gpatch8'
ID 380583
Institutional Source Beutler Lab
Gene Symbol Gpatch8
Ensembl Gene ENSMUSG00000034621
Gene Name G patch domain containing 8
Synonyms Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102366741-102447218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102372050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 496 (E496G)
Ref Sequence ENSEMBL: ENSMUSP00000120649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143842]
AlphaFold A2A6A1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069673
Predicted Effect unknown
Transcript: ENSMUST00000143842
AA Change: E496G
SMART Domains Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: E496G

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
Meta Mutation Damage Score 0.0890 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Gpatch8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Gpatch8 APN 11 102,369,704 (GRCm39) missense probably damaging 1.00
IGL00590:Gpatch8 APN 11 102,371,375 (GRCm39) missense unknown
IGL00835:Gpatch8 APN 11 102,369,375 (GRCm39) missense probably damaging 1.00
IGL00971:Gpatch8 APN 11 102,370,743 (GRCm39) missense unknown
IGL01395:Gpatch8 APN 11 102,371,534 (GRCm39) missense unknown
IGL02386:Gpatch8 APN 11 102,398,983 (GRCm39) missense unknown
IGL02476:Gpatch8 APN 11 102,369,417 (GRCm39) missense probably damaging 1.00
IGL02809:Gpatch8 APN 11 102,378,416 (GRCm39) missense unknown
IGL02985:Gpatch8 APN 11 102,372,336 (GRCm39) missense unknown
IGL03013:Gpatch8 APN 11 102,399,023 (GRCm39) missense unknown
PIT4810001:Gpatch8 UTSW 11 102,372,668 (GRCm39) missense unknown
R0332:Gpatch8 UTSW 11 102,372,668 (GRCm39) missense unknown
R0464:Gpatch8 UTSW 11 102,371,712 (GRCm39) missense unknown
R0710:Gpatch8 UTSW 11 102,372,759 (GRCm39) missense unknown
R0734:Gpatch8 UTSW 11 102,372,226 (GRCm39) missense unknown
R1458:Gpatch8 UTSW 11 102,372,055 (GRCm39) missense unknown
R1919:Gpatch8 UTSW 11 102,398,968 (GRCm39) critical splice donor site probably null
R2007:Gpatch8 UTSW 11 102,391,657 (GRCm39) missense unknown
R2495:Gpatch8 UTSW 11 102,369,307 (GRCm39) missense probably damaging 1.00
R2881:Gpatch8 UTSW 11 102,370,743 (GRCm39) missense unknown
R2939:Gpatch8 UTSW 11 102,399,010 (GRCm39) missense unknown
R4672:Gpatch8 UTSW 11 102,369,784 (GRCm39) missense probably damaging 1.00
R4903:Gpatch8 UTSW 11 102,370,959 (GRCm39) missense unknown
R5230:Gpatch8 UTSW 11 102,370,404 (GRCm39) missense probably damaging 1.00
R5288:Gpatch8 UTSW 11 102,399,053 (GRCm39) splice site probably null
R5384:Gpatch8 UTSW 11 102,399,053 (GRCm39) splice site probably null
R5386:Gpatch8 UTSW 11 102,399,053 (GRCm39) splice site probably null
R5564:Gpatch8 UTSW 11 102,429,111 (GRCm39) missense unknown
R5668:Gpatch8 UTSW 11 102,391,693 (GRCm39) missense unknown
R5954:Gpatch8 UTSW 11 102,371,767 (GRCm39) missense unknown
R5966:Gpatch8 UTSW 11 102,371,058 (GRCm39) missense unknown
R6018:Gpatch8 UTSW 11 102,371,741 (GRCm39) missense unknown
R6176:Gpatch8 UTSW 11 102,378,350 (GRCm39) missense unknown
R6388:Gpatch8 UTSW 11 102,369,314 (GRCm39) missense probably damaging 1.00
R7153:Gpatch8 UTSW 11 102,371,014 (GRCm39) small insertion probably benign
R7155:Gpatch8 UTSW 11 102,371,014 (GRCm39) small insertion probably benign
R7163:Gpatch8 UTSW 11 102,371,014 (GRCm39) small insertion probably benign
R7238:Gpatch8 UTSW 11 102,369,354 (GRCm39) missense probably damaging 1.00
R7407:Gpatch8 UTSW 11 102,370,656 (GRCm39) missense unknown
R7825:Gpatch8 UTSW 11 102,372,268 (GRCm39) missense unknown
R8205:Gpatch8 UTSW 11 102,371,213 (GRCm39) missense unknown
R8241:Gpatch8 UTSW 11 102,378,347 (GRCm39) missense unknown
R8805:Gpatch8 UTSW 11 102,371,018 (GRCm39) missense unknown
R8847:Gpatch8 UTSW 11 102,372,010 (GRCm39) missense unknown
R9156:Gpatch8 UTSW 11 102,370,299 (GRCm39) missense probably benign 0.22
Z1088:Gpatch8 UTSW 11 102,371,771 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGCTCTGCTTTGGTGAAAATG -3'
(R):5'- GGGGATCATAGTGCACACTC -3'

Sequencing Primer
(F):5'- AATGAGTAGTTCTGATGGCCAC -3'
(R):5'- GATCATAGTGCACACTCAAAGAG -3'
Posted On 2016-04-15