Incidental Mutation 'IGL01143:Gpatch1'
ID 51655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch1
Ensembl Gene ENSMUSG00000063808
Gene Name G patch domain containing 1
Synonyms Gpatc1, 1300003A17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01143
Quality Score
Status
Chromosome 7
Chromosomal Location 34975969-35017865 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 35000997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]
AlphaFold Q9DBM1
Predicted Effect probably benign
Transcript: ENSMUST00000079693
SMART Domains Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808

DomainStartEndE-ValueType
Pfam:DUF1604 31 116 2.1e-39 PFAM
G_patch 150 191 4.72e-1 SMART
low complexity region 200 209 N/A INTRINSIC
low complexity region 456 478 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 651 665 N/A INTRINSIC
low complexity region 759 780 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 847 897 N/A INTRINSIC
low complexity region 899 909 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131143
SMART Domains Protein: ENSMUSP00000121711
Gene: ENSMUSG00000063808

DomainStartEndE-ValueType
Pfam:DUF1604 29 98 2.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131213
SMART Domains Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808

DomainStartEndE-ValueType
Pfam:DUF1604 31 116 7.9e-40 PFAM
G_patch 150 191 4.72e-1 SMART
low complexity region 200 209 N/A INTRINSIC
low complexity region 456 478 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 651 665 N/A INTRINSIC
low complexity region 759 780 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 849 881 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A T 10: 85,490,335 (GRCm39) probably benign Het
Adgrl4 A G 3: 151,205,866 (GRCm39) probably null Het
Adgrv1 A C 13: 81,567,470 (GRCm39) D5234E probably benign Het
Bmp7 G T 2: 172,721,275 (GRCm39) H267N probably benign Het
Ccdc113 T C 8: 96,260,888 (GRCm39) V30A probably damaging Het
Ccdc185 A T 1: 182,575,417 (GRCm39) L424Q probably damaging Het
Cep192 T A 18: 67,937,445 (GRCm39) D58E probably damaging Het
Ces1f C T 8: 93,998,458 (GRCm39) probably null Het
Chaf1a T A 17: 56,370,336 (GRCm39) D600E possibly damaging Het
Cndp2 A G 18: 84,695,442 (GRCm39) probably null Het
Dnah11 T A 12: 117,976,475 (GRCm39) D2727V probably damaging Het
Dync1li2 T C 8: 105,156,085 (GRCm39) D252G probably damaging Het
Ephx2 C T 14: 66,326,971 (GRCm39) R408Q probably damaging Het
Fat1 C A 8: 45,488,569 (GRCm39) T3427K possibly damaging Het
Gal3st4 A G 5: 138,269,664 (GRCm39) M1T probably null Het
Gm5828 T C 1: 16,840,172 (GRCm39) noncoding transcript Het
Gm7694 C T 1: 170,130,394 (GRCm39) M1I probably null Het
Grik1 G T 16: 87,754,488 (GRCm39) probably null Het
Gtf2ird2 A G 5: 134,225,394 (GRCm39) T161A possibly damaging Het
Hk2 T C 6: 82,706,533 (GRCm39) I790V possibly damaging Het
Ints9 G A 14: 65,274,870 (GRCm39) V609I probably benign Het
Kcnq4 T G 4: 120,555,820 (GRCm39) D585A probably damaging Het
Large2 T C 2: 92,196,684 (GRCm39) Y464C probably damaging Het
Lpar6 G A 14: 73,476,077 (GRCm39) D13N probably damaging Het
Morn1 T C 4: 155,176,761 (GRCm39) Y132H probably damaging Het
Nphp1 C T 2: 127,622,056 (GRCm39) V24I probably benign Het
Or5b104 A T 19: 13,072,476 (GRCm39) F179I probably damaging Het
Or5w17 T C 2: 87,584,278 (GRCm39) N20D probably benign Het
Or8b1c G T 9: 38,384,338 (GRCm39) M98I possibly damaging Het
Pcdhb13 T C 18: 37,575,690 (GRCm39) W23R probably benign Het
Plekhg3 T C 12: 76,611,756 (GRCm39) probably null Het
Slx4 T C 16: 3,808,752 (GRCm39) K396R probably benign Het
Snx13 A G 12: 35,182,159 (GRCm39) D736G probably damaging Het
Spag17 A G 3: 99,846,614 (GRCm39) D46G probably benign Het
Spata31 T G 13: 65,068,630 (GRCm39) Y259* probably null Het
Synj1 T C 16: 90,748,864 (GRCm39) E1064G probably damaging Het
Tom1 A G 8: 75,785,085 (GRCm39) T81A probably benign Het
Ttc23l A G 15: 10,530,775 (GRCm39) I279T probably damaging Het
Ttc39a T C 4: 109,300,010 (GRCm39) probably null Het
Vmn2r108 C A 17: 20,682,727 (GRCm39) A826S possibly damaging Het
Zyg11b A T 4: 108,102,191 (GRCm39) V510E possibly damaging Het
Other mutations in Gpatch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Gpatch1 APN 7 34,976,238 (GRCm39) critical splice acceptor site probably null
IGL01523:Gpatch1 APN 7 35,007,763 (GRCm39) missense probably null 1.00
IGL01862:Gpatch1 APN 7 34,994,703 (GRCm39) missense probably benign
IGL02349:Gpatch1 APN 7 35,006,680 (GRCm39) missense probably damaging 1.00
IGL02792:Gpatch1 APN 7 35,001,018 (GRCm39) missense probably damaging 0.96
IGL02926:Gpatch1 APN 7 35,007,694 (GRCm39) missense probably damaging 1.00
IGL03099:Gpatch1 APN 7 34,996,948 (GRCm39) missense possibly damaging 0.87
IGL03107:Gpatch1 APN 7 35,002,742 (GRCm39) missense probably benign 0.35
IGL03324:Gpatch1 APN 7 34,993,120 (GRCm39) missense possibly damaging 0.81
IGL03324:Gpatch1 APN 7 34,998,705 (GRCm39) missense probably damaging 0.96
R0066:Gpatch1 UTSW 7 34,986,652 (GRCm39) missense probably damaging 1.00
R0066:Gpatch1 UTSW 7 34,986,652 (GRCm39) missense probably damaging 1.00
R0137:Gpatch1 UTSW 7 34,986,667 (GRCm39) missense probably damaging 1.00
R0347:Gpatch1 UTSW 7 34,997,056 (GRCm39) missense probably benign 0.16
R0382:Gpatch1 UTSW 7 35,001,080 (GRCm39) missense probably damaging 1.00
R0390:Gpatch1 UTSW 7 34,980,806 (GRCm39) intron probably benign
R0791:Gpatch1 UTSW 7 34,980,801 (GRCm39) intron probably benign
R1162:Gpatch1 UTSW 7 35,002,905 (GRCm39) splice site probably benign
R1374:Gpatch1 UTSW 7 34,991,187 (GRCm39) missense probably damaging 1.00
R1480:Gpatch1 UTSW 7 35,002,763 (GRCm39) missense probably damaging 1.00
R1556:Gpatch1 UTSW 7 34,994,776 (GRCm39) missense probably benign 0.00
R1682:Gpatch1 UTSW 7 35,002,812 (GRCm39) missense possibly damaging 0.80
R1887:Gpatch1 UTSW 7 35,002,813 (GRCm39) missense probably damaging 0.98
R1935:Gpatch1 UTSW 7 34,994,947 (GRCm39) missense probably damaging 1.00
R1936:Gpatch1 UTSW 7 34,994,947 (GRCm39) missense probably damaging 1.00
R2148:Gpatch1 UTSW 7 34,998,701 (GRCm39) missense probably benign 0.16
R2205:Gpatch1 UTSW 7 34,991,197 (GRCm39) missense probably damaging 1.00
R2215:Gpatch1 UTSW 7 34,993,252 (GRCm39) missense possibly damaging 0.48
R2274:Gpatch1 UTSW 7 34,988,103 (GRCm39) missense probably benign 0.00
R2275:Gpatch1 UTSW 7 34,988,103 (GRCm39) missense probably benign 0.00
R4126:Gpatch1 UTSW 7 34,993,079 (GRCm39) critical splice donor site probably null
R4705:Gpatch1 UTSW 7 34,998,730 (GRCm39) splice site probably null
R5227:Gpatch1 UTSW 7 35,008,776 (GRCm39) missense probably benign 0.09
R5567:Gpatch1 UTSW 7 35,006,640 (GRCm39) missense probably damaging 0.99
R5810:Gpatch1 UTSW 7 34,994,796 (GRCm39) missense probably benign 0.01
R5946:Gpatch1 UTSW 7 34,991,257 (GRCm39) missense probably damaging 0.99
R6263:Gpatch1 UTSW 7 35,002,848 (GRCm39) missense probably damaging 1.00
R6386:Gpatch1 UTSW 7 34,991,265 (GRCm39) missense probably damaging 1.00
R6569:Gpatch1 UTSW 7 34,991,163 (GRCm39) missense probably damaging 1.00
R6847:Gpatch1 UTSW 7 34,992,983 (GRCm39) splice site probably null
R7186:Gpatch1 UTSW 7 34,994,738 (GRCm39) missense possibly damaging 0.86
R7259:Gpatch1 UTSW 7 34,986,546 (GRCm39) critical splice donor site probably null
R7276:Gpatch1 UTSW 7 34,996,921 (GRCm39) missense probably benign 0.00
R7516:Gpatch1 UTSW 7 35,007,625 (GRCm39) missense probably benign 0.09
R7521:Gpatch1 UTSW 7 34,993,213 (GRCm39) missense probably damaging 1.00
R7561:Gpatch1 UTSW 7 35,008,800 (GRCm39) missense probably damaging 1.00
R7570:Gpatch1 UTSW 7 34,993,237 (GRCm39) missense probably damaging 1.00
R7588:Gpatch1 UTSW 7 34,991,173 (GRCm39) missense probably damaging 1.00
R7843:Gpatch1 UTSW 7 34,980,879 (GRCm39) missense unknown
R8353:Gpatch1 UTSW 7 34,976,704 (GRCm39) intron probably benign
R8430:Gpatch1 UTSW 7 35,007,634 (GRCm39) missense probably damaging 1.00
R8669:Gpatch1 UTSW 7 34,991,204 (GRCm39) missense probably damaging 1.00
X0020:Gpatch1 UTSW 7 34,994,806 (GRCm39) missense probably benign 0.09
Z1176:Gpatch1 UTSW 7 35,009,910 (GRCm39) missense probably damaging 1.00
Z1186:Gpatch1 UTSW 7 35,017,770 (GRCm39) missense probably benign
Z1186:Gpatch1 UTSW 7 34,997,079 (GRCm39) missense possibly damaging 0.91
Z1186:Gpatch1 UTSW 7 34,980,797 (GRCm39) missense unknown
Z1191:Gpatch1 UTSW 7 35,017,770 (GRCm39) missense probably benign
Z1191:Gpatch1 UTSW 7 34,997,079 (GRCm39) missense possibly damaging 0.91
Z1191:Gpatch1 UTSW 7 34,980,797 (GRCm39) missense unknown
Posted On 2013-06-21