Incidental Mutation 'R2495:Gpatch8'
ID 251002
Institutional Source Beutler Lab
Gene Symbol Gpatch8
Ensembl Gene ENSMUSG00000034621
Gene Name G patch domain containing 8
Synonyms Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik
MMRRC Submission 040409-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R2495 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102366741-102447218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102369307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1410 (H1410Q)
Ref Sequence ENSEMBL: ENSMUSP00000120649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143842]
AlphaFold A2A6A1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069673
Predicted Effect probably damaging
Transcript: ENSMUST00000143842
AA Change: H1410Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: H1410Q

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 0.1214 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (63/64)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,536,109 (GRCm39) F125S unknown Het
Abhd17c C T 7: 83,759,884 (GRCm39) W290* probably null Het
Acsl5 A T 19: 55,282,031 (GRCm39) K536* probably null Het
Adamts14 A T 10: 61,034,749 (GRCm39) probably null Het
Agbl3 A G 6: 34,823,699 (GRCm39) H788R probably damaging Het
Agrp T C 8: 106,293,408 (GRCm39) N126D possibly damaging Het
Ambn T C 5: 88,615,663 (GRCm39) I349T probably benign Het
Ank1 T C 8: 23,622,280 (GRCm39) W1610R probably damaging Het
Aox3 T C 1: 58,227,567 (GRCm39) L1224P probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Bcl11b G A 12: 107,881,706 (GRCm39) H798Y possibly damaging Het
Capn11 T A 17: 45,949,689 (GRCm39) M426L probably damaging Het
Cep95 A G 11: 106,700,108 (GRCm39) K290E possibly damaging Het
Cic A G 7: 24,991,201 (GRCm39) probably benign Het
Cnbd1 A T 4: 18,860,579 (GRCm39) M389K probably damaging Het
Cnksr1 A T 4: 133,959,473 (GRCm39) L387Q probably benign Het
Cntrob G T 11: 69,213,749 (GRCm39) P14T probably damaging Het
Crmp1 G A 5: 37,403,441 (GRCm39) probably null Het
Dido1 A G 2: 180,331,181 (GRCm39) V89A probably benign Het
Dnah7a T A 1: 53,645,040 (GRCm39) I999F probably damaging Het
Dsp T A 13: 38,377,453 (GRCm39) L1746Q possibly damaging Het
Dst T C 1: 34,238,454 (GRCm39) S3897P probably damaging Het
Fbxo10 A G 4: 45,040,545 (GRCm39) F887L probably benign Het
Gm21961 T A 15: 64,886,722 (GRCm39) H11L unknown Het
Gm4559 A T 7: 141,827,557 (GRCm39) C182S unknown Het
Golga3 T A 5: 110,355,462 (GRCm39) S939T probably damaging Het
Got2 A G 8: 96,614,918 (GRCm39) S6P possibly damaging Het
Gpx5 T A 13: 21,475,610 (GRCm39) T39S probably benign Het
Grin2b T C 6: 135,710,180 (GRCm39) Y1122C probably damaging Het
Gsn A C 2: 35,193,205 (GRCm39) N538T probably damaging Het
Helz2 A G 2: 180,874,705 (GRCm39) S1930P probably damaging Het
Krt6b A T 15: 101,586,757 (GRCm39) F286Y probably damaging Het
Lrriq1 G A 10: 103,038,242 (GRCm39) R854C probably damaging Het
Mipol1 A T 12: 57,507,776 (GRCm39) probably benign Het
Mmp19 A G 10: 128,626,819 (GRCm39) probably benign Het
Msc T G 1: 14,825,473 (GRCm39) Y167S probably benign Het
Mycbp2 T G 14: 103,437,554 (GRCm39) K2103Q probably damaging Het
Myh11 C A 16: 14,023,421 (GRCm39) D1586Y probably damaging Het
Nol6 A T 4: 41,118,427 (GRCm39) D791E probably damaging Het
Pcm1 A G 8: 41,746,616 (GRCm39) T1272A probably benign Het
Phgdh A G 3: 98,247,105 (GRCm39) L15P probably damaging Het
Ptprk A T 10: 28,351,074 (GRCm39) probably benign Het
Ralgapa2 G T 2: 146,203,320 (GRCm39) D1091E possibly damaging Het
Rbbp8nl C A 2: 179,920,895 (GRCm39) K496N probably null Het
Rbm26 T C 14: 105,388,748 (GRCm39) probably benign Het
Rfx6 A C 10: 51,602,771 (GRCm39) probably benign Het
Rras G A 7: 44,667,488 (GRCm39) G17R probably damaging Het
Shisa6 G A 11: 66,108,459 (GRCm39) P473S probably damaging Het
Slc9a3 A G 13: 74,306,822 (GRCm39) K316E probably damaging Het
Slco1a7 C A 6: 141,711,503 (GRCm39) M69I probably benign Het
Spata31d1a A G 13: 59,849,807 (GRCm39) S774P possibly damaging Het
Spsb4 T C 9: 96,877,840 (GRCm39) Y161C probably damaging Het
Taf3 G T 2: 9,957,644 (GRCm39) N174K probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trnt1 T A 6: 106,750,330 (GRCm39) V78E possibly damaging Het
Ubox5 A T 2: 130,441,441 (GRCm39) C415* probably null Het
Ucn2 C T 9: 108,815,477 (GRCm39) P80S possibly damaging Het
Vmn2r10 G A 5: 109,143,961 (GRCm39) T663I probably damaging Het
Wdfy1 A T 1: 79,685,222 (GRCm39) F337L probably null Het
Zfp287 A T 11: 62,605,459 (GRCm39) C483S probably damaging Het
Zyg11b A G 4: 108,101,921 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCCTGACCTGAGAAGATGGG -3'
(R):5'- ACAAGTGAAGGCCTTTCCAG -3'

Sequencing Primer
(F):5'- TGAAGATGGAGGGCTGTGGC -3'
(R):5'- GAAGGCCTTTCCAGCCTCC -3'
Posted On 2014-12-04