Incidental Mutation 'R6018:Gpatch8'
ID478731
Institutional Source Beutler Lab
Gene Symbol Gpatch8
Ensembl Gene ENSMUSG00000034621
Gene NameG patch domain containing 8
SynonymsENSMUSG00000075516, Fbm1, 5430405G24Rik, Gpatc8
MMRRC Submission 044192-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.415) question?
Stock #R6018 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location102475915-102556392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102480915 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 599 (L599P)
Ref Sequence ENSEMBL: ENSMUSP00000120649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143842]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069673
Predicted Effect unknown
Transcript: ENSMUST00000143842
AA Change: L599P
SMART Domains Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: L599P

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,416,799 Y155N probably damaging Het
1700019A02Rik C T 1: 53,163,246 probably null Het
2310022B05Rik A G 8: 124,639,114 F297L probably benign Het
Acbd3 T C 1: 180,752,338 S516P possibly damaging Het
Agbl3 A G 6: 34,799,255 N227S probably damaging Het
Ak6 C T 13: 100,665,951 Q151* probably null Het
Ano4 A G 10: 89,029,266 L297P probably benign Het
Anxa5 T C 3: 36,450,658 T252A probably benign Het
Ap5s1 G A 2: 131,212,995 W212* probably null Het
Arl9 A G 5: 77,007,406 Q113R probably damaging Het
Atg2b T C 12: 105,661,171 H519R probably damaging Het
Atp1a2 A G 1: 172,298,012 probably benign Het
Atp2b1 G A 10: 99,010,760 A808T probably damaging Het
Bckdhb C A 9: 84,069,184 T342K probably benign Het
Bdp1 T C 13: 100,038,224 H1996R probably benign Het
Brix1 C T 15: 10,476,589 R267H probably benign Het
Ccdc180 A G 4: 45,926,235 I1148M probably damaging Het
Csf3r T A 4: 126,043,621 M766K probably benign Het
Ctnnd1 T A 2: 84,650,468 probably benign Het
Cyp2c39 A T 19: 39,510,992 N41I probably damaging Het
D2hgdh G T 1: 93,826,460 V52L probably benign Het
Dppa4 T A 16: 48,289,127 Y77* probably null Het
Eif4enif1 T C 11: 3,242,481 S770P probably damaging Het
Fbxl16 A T 17: 25,817,735 D230V probably damaging Het
Gm4847 G A 1: 166,643,448 A11V probably damaging Het
Gm9978 C T 10: 78,487,081 noncoding transcript Het
Hdac4 A G 1: 91,958,398 L254P probably damaging Het
Heatr1 A G 13: 12,404,947 I384V probably benign Het
Heatr1 A T 13: 12,406,058 Q410L probably benign Het
Hmcn2 A G 2: 31,370,792 I1065V probably benign Het
Igkv6-14 A G 6: 70,435,040 S87P probably damaging Het
Il2rb G T 15: 78,482,066 Q344K possibly damaging Het
Ipo4 A G 14: 55,626,152 probably null Het
Ipo9 A G 1: 135,390,536 probably null Het
Khdrbs1 T C 4: 129,720,094 T374A probably benign Het
Lamc3 G T 2: 31,905,712 G370W probably damaging Het
Lipn T A 19: 34,076,935 L191Q probably damaging Het
Lpl T C 8: 68,901,288 V427A probably benign Het
Magi3 T C 3: 104,105,812 S120G probably damaging Het
Mgl2 T C 11: 70,137,111 *382Q probably null Het
Nab2 G A 10: 127,664,924 Q100* probably null Het
Nfat5 T A 8: 107,355,651 probably null Het
Nqo1 T C 8: 107,388,868 H259R probably damaging Het
Nrd1 T A 4: 109,013,747 D190E probably benign Het
Olfr1030 T A 2: 85,984,804 probably benign Het
Osmr G A 15: 6,815,795 P830L probably damaging Het
Parp14 G A 16: 35,841,457 P1403S probably benign Het
Pde11a T A 2: 76,017,850 M878L probably benign Het
Pik3ap1 T C 19: 41,385,016 probably benign Het
Pla2g3 T C 11: 3,491,916 L360P probably damaging Het
Plxnc1 A G 10: 94,943,848 V244A probably benign Het
Pramef25 C T 4: 143,950,899 A37T possibly damaging Het
Ptpra T C 2: 130,503,502 V8A probably benign Het
Rbbp5 T C 1: 132,494,340 V199A probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rp1 A G 1: 4,352,836 V7A possibly damaging Het
Sdk2 T C 11: 113,830,063 T1347A probably benign Het
Sgo2a T A 1: 58,016,959 H767Q probably benign Het
Sis G A 3: 72,913,192 P1413L possibly damaging Het
Slc22a5 G T 11: 53,876,020 A214E probably damaging Het
Snx13 G T 12: 35,047,319 probably benign Het
Sun5 T A 2: 153,858,443 I295F probably damaging Het
Themis3 C T 17: 66,593,209 A55T probably damaging Het
Tmem255b T C 8: 13,455,138 Y148H probably benign Het
Tmem74b A G 2: 151,706,719 E122G probably damaging Het
Top3b T C 16: 16,892,892 V862A probably damaging Het
Trim35 A T 14: 66,308,750 D322V probably damaging Het
Trpm2 A G 10: 77,917,713 F1319S probably benign Het
Ttn T A 2: 76,954,676 R756S probably benign Het
Vmn2r108 A T 17: 20,463,006 N645K possibly damaging Het
Vmn2r73 A G 7: 85,872,667 S155P possibly damaging Het
Vstm4 G A 14: 32,863,670 A65T probably benign 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
IGL02476:Gpatch8 APN 11 102478591 missense probably damaging 1.00
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
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
R7825:Gpatch8 UTSW 11 102481442 missense unknown
Z1088:Gpatch8 UTSW 11 102480945 missense unknown
Predicted Primers PCR Primer
(F):5'- CTTGCTAGGATGGCTTCTCC -3'
(R):5'- CAAGCATCCTACTGGTCCATTC -3'

Sequencing Primer
(F):5'- CTAGGATGGCTTCTCCCAGTG -3'
(R):5'- TTTTAAGCAAGGATGAAAGCACTGCC -3'
Posted On2017-06-26