Incidental Mutation 'R7153:Gpatch8'
ID 554270
Institutional Source Beutler Lab
Gene Symbol Gpatch8
Ensembl Gene ENSMUSG00000034621
Gene Name G patch domain containing 8
Synonyms Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik
MMRRC Submission 045255-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R7153 (G1)
Quality Score 217.468
Status Validated
Chromosome 11
Chromosomal Location 102366741-102447218 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) TTCCTCCTCCTCCTCTTCCTCCTCCTC to TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC at 102371014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143842]
AlphaFold A2A6A1
Predicted Effect probably benign
Transcript: ENSMUST00000143842
SMART Domains Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,969,906 (GRCm39) T741A possibly damaging Het
Aox4 T C 1: 58,289,378 (GRCm39) M767T probably damaging Het
Arhgap39 C A 15: 76,649,691 (GRCm39) S27I probably benign Het
AU018091 T A 7: 3,209,353 (GRCm39) M296L probably benign Het
Axin1 A G 17: 26,406,942 (GRCm39) T512A probably benign Het
B4galnt3 A T 6: 120,191,929 (GRCm39) D602E probably benign Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bsnd A T 4: 106,349,230 (GRCm39) D3E probably benign Het
Btbd18 C T 2: 84,496,772 (GRCm39) R137* probably null Het
C2cd5 A G 6: 142,965,135 (GRCm39) S871P probably benign Het
Cobl G T 11: 12,204,128 (GRCm39) P858Q probably damaging Het
Col6a1 C T 10: 76,546,175 (GRCm39) probably null Het
Crb2 A T 2: 37,677,420 (GRCm39) H304L probably benign Het
Crybg1 T A 10: 43,840,662 (GRCm39) Y1812F possibly damaging Het
Ddx60 A T 8: 62,441,142 (GRCm39) K1070N possibly damaging Het
Defb22 T C 2: 152,327,840 (GRCm39) K115R unknown Het
Dhx8 C T 11: 101,631,001 (GRCm39) probably null Het
Dnah5 T A 15: 28,365,668 (GRCm39) probably null Het
Dnah7b T A 1: 46,165,964 (GRCm39) F543Y probably benign Het
Ehhadh A G 16: 21,585,071 (GRCm39) F270S probably damaging Het
Esyt2 A G 12: 116,310,128 (GRCm39) M397V probably benign Het
Fanca A T 8: 124,043,164 (GRCm39) L74H probably damaging Het
Fbxl17 C A 17: 63,367,346 (GRCm39) V676F probably benign Het
Fndc1 A G 17: 8,020,477 (GRCm39) V102A probably damaging Het
Gpalpp1 T C 14: 76,332,451 (GRCm39) Y273C probably damaging Het
Grik2 T C 10: 49,411,463 (GRCm39) H225R probably benign Het
Helz2 A T 2: 180,873,078 (GRCm39) S2411T probably benign Het
Hnmt C T 2: 23,904,353 (GRCm39) A103T probably damaging Het
Ighv15-2 G T 12: 114,528,210 (GRCm39) Y114* probably null Het
Irak2 A G 6: 113,655,670 (GRCm39) H357R probably benign Het
Kcp T C 6: 29,499,014 (GRCm39) E320G probably damaging Het
Kpna4 A G 3: 68,997,131 (GRCm39) L352S probably damaging Het
Krt36 G A 11: 99,995,972 (GRCm39) Q151* probably null Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lca5l T A 16: 95,975,009 (GRCm39) N305I probably damaging Het
Lefty1 T A 1: 180,765,332 (GRCm39) L300Q probably benign Het
Mertk A G 2: 128,578,569 (GRCm39) Y185C probably damaging Het
Mmp14 T C 14: 54,673,708 (GRCm39) I124T possibly damaging Het
Nlrc4 T C 17: 74,754,098 (GRCm39) E95G possibly damaging Het
Npc1 A G 18: 12,346,348 (GRCm39) F283L possibly damaging Het
Or4k38 A T 2: 111,166,246 (GRCm39) M59K probably damaging Het
Or4p19 A C 2: 88,242,462 (GRCm39) L180W probably damaging Het
Pcdha11 T C 18: 37,144,278 (GRCm39) V123A probably damaging Het
Pcdhga2 T C 18: 37,802,261 (GRCm39) V35A probably damaging Het
Pgd G T 4: 149,246,135 (GRCm39) T94K probably benign Het
Pik3c2a T C 7: 115,941,487 (GRCm39) N1593S probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb3 A G 19: 6,935,452 (GRCm39) probably null Het
Prkd3 C T 17: 79,273,784 (GRCm39) D491N probably benign Het
Ptprf T C 4: 118,088,740 (GRCm39) T688A probably damaging Het
Pycr2 T A 1: 180,734,247 (GRCm39) L210M probably damaging Het
Rpl36 T C 17: 56,921,137 (GRCm39) I81T probably benign Het
Rraga C T 4: 86,494,253 (GRCm39) A33V probably damaging Het
Slc29a1 G A 17: 45,896,688 (GRCm39) A429V probably damaging Het
Stab1 T G 14: 30,882,541 (GRCm39) E432A probably benign Het
Synj1 C T 16: 90,744,978 (GRCm39) G1189R probably benign Het
Synpo2 A G 3: 122,906,053 (GRCm39) *1088Q probably null Het
Tbc1d21 T C 9: 58,270,376 (GRCm39) D133G probably damaging Het
Tenm2 A G 11: 35,915,009 (GRCm39) V2176A probably damaging Het
Tff1 A G 17: 31,381,772 (GRCm39) I35T probably benign Het
Thnsl1 T C 2: 21,217,764 (GRCm39) V506A possibly damaging Het
Timm10b A G 7: 105,290,087 (GRCm39) Q50R unknown Het
Tjp2 A T 19: 24,079,345 (GRCm39) N843K probably benign Het
Tle1 A T 4: 72,057,298 (GRCm39) F101I probably benign Het
Tmem225 T C 9: 40,059,664 (GRCm39) F15L probably benign Het
Trav12-3 T C 14: 53,859,618 (GRCm39) L88P probably benign Het
Ttc7b A T 12: 100,321,293 (GRCm39) W613R probably damaging Het
Ttn T A 2: 76,608,848 (GRCm39) M17723L probably benign Het
Ttn T C 2: 76,775,660 (GRCm39) D1840G unknown Het
Tubgcp2 T C 7: 139,580,949 (GRCm39) H668R probably benign Het
Ush2a C A 1: 188,460,681 (GRCm39) N2647K possibly damaging Het
Vmn1r14 C T 6: 57,210,851 (GRCm39) S143F probably benign Het
Vmn2r70 A G 7: 85,214,262 (GRCm39) S297P probably damaging Het
Ywhab T C 2: 163,855,980 (GRCm39) F119L probably damaging Het
Zmym2 T A 14: 57,187,659 (GRCm39) D1108E probably benign 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
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
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'- TTCGTGATCGGTCGCTATAGTC -3'
(R):5'- TGCCAAGATCACAGTGGGAG -3'

Sequencing Primer
(F):5'- GATCGGTCGCTATAGTCACTATAG -3'
(R):5'- CCAAGATCACAGTGGGAGGAAAC -3'
Posted On 2019-05-15