Incidental Mutation 'IGL01395:Gpatch8'
ID 79377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch8
Ensembl Gene ENSMUSG00000034621
Gene Name G patch domain containing 8
Synonyms Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # IGL01395
Quality Score
Status
Chromosome 11
Chromosomal Location 102366741-102447218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102371534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 668 (H668R)
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: H668R
SMART Domains Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: H668R

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G 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
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
R4931:Gpatch8 UTSW 11 102,372,050 (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
Posted On 2013-11-05