Incidental Mutation 'R6847:Gpatch1'
ID 534809
Institutional Source Beutler Lab
Gene Symbol Gpatch1
Ensembl Gene ENSMUSG00000063808
Gene Name G patch domain containing 1
Synonyms Gpatc1, 1300003A17Rik
MMRRC Submission 045021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6847 (G1)
Quality Score 145.008
Status Validated
Chromosome 7
Chromosomal Location 34975969-35017865 bp(-) (GRCm39)
Type of Mutation splice site (97 bp from exon)
DNA Base Change (assembly) A to T at 34992983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]
AlphaFold Q9DBM1
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,021,465 (GRCm39) I675T probably benign Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ak9 A G 10: 41,233,797 (GRCm39) probably null Het
Akr1c6 T A 13: 4,488,497 (GRCm39) C34* probably null Het
Akt3 G A 1: 176,859,225 (GRCm39) P449S probably damaging Het
Atg2b A T 12: 105,602,047 (GRCm39) V1643E probably damaging Het
Atp2c1 T C 9: 105,295,778 (GRCm39) I819V probably damaging Het
Casp3 C T 8: 47,089,301 (GRCm39) A183V probably benign Het
Cdk1 A T 10: 69,174,358 (GRCm39) D288E probably benign Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Cep290 A G 10: 100,399,281 (GRCm39) K2268E probably damaging Het
Crybg2 A G 4: 133,792,857 (GRCm39) E164G probably benign Het
Cubn A C 2: 13,449,064 (GRCm39) probably null Het
Dnajc14 A T 10: 128,652,656 (GRCm39) E571D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eef1b2 A G 1: 63,217,648 (GRCm39) E44G probably benign Het
Eml6 C T 11: 29,768,447 (GRCm39) V747I probably benign Het
Ext1 T G 15: 53,208,550 (GRCm39) Q70H probably benign Het
Gbp2b T A 3: 142,303,940 (GRCm39) C12S probably damaging Het
Gbp8 A C 5: 105,179,093 (GRCm39) D135E probably benign Het
Gm12886 A T 4: 121,273,916 (GRCm39) L100* probably null Het
Ifit3b A T 19: 34,588,925 (GRCm39) M34L probably benign Het
Il12a G T 3: 68,602,899 (GRCm39) D160Y probably damaging Het
Klhl2 A G 8: 65,212,816 (GRCm39) L241P probably damaging Het
Krt80 T C 15: 101,256,610 (GRCm39) E195G probably benign Het
Lgi1 T C 19: 38,289,738 (GRCm39) V268A probably damaging Het
Lrrfip1 A T 1: 91,032,850 (GRCm39) D216V probably damaging Het
Meis3 A G 7: 15,917,789 (GRCm39) N314S probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A T 16: 48,965,451 (GRCm39) I1119F possibly damaging Het
Nav2 A T 7: 49,141,204 (GRCm39) Q916H probably benign Het
Ncam2 A T 16: 81,229,606 (GRCm39) Q22L probably damaging Het
Or5b118 A T 19: 13,448,402 (GRCm39) I23F probably benign Het
P2rx4 G A 5: 122,865,814 (GRCm39) V329M probably damaging Het
Peg10 A G 6: 4,754,279 (GRCm39) probably benign Het
Pgp T C 17: 24,690,375 (GRCm39) L267P probably damaging Het
Pou2af2 G A 9: 51,201,504 (GRCm39) T184M probably damaging Het
Prdm2 A C 4: 142,859,520 (GRCm39) S1257A probably benign Het
Prr12 T C 7: 44,695,164 (GRCm39) N1434S unknown Het
Psmc3ip A T 11: 100,985,999 (GRCm39) H40Q probably damaging Het
Ptprc A T 1: 138,016,283 (GRCm39) N526K probably damaging Het
Sec63 T A 10: 42,667,249 (GRCm39) D138E probably damaging Het
Serpinb13 A G 1: 106,926,663 (GRCm39) N220D probably benign Het
Siva1 G A 12: 112,611,344 (GRCm39) probably benign Het
Slc39a12 A G 2: 14,454,728 (GRCm39) H546R probably damaging Het
Slc7a1 G A 5: 148,271,468 (GRCm39) A497V probably benign Het
Smg5 G T 3: 88,249,859 (GRCm39) K95N probably damaging Het
Speer1a G A 5: 11,394,134 (GRCm39) V78M probably damaging Het
Traj50 T A 14: 54,405,101 (GRCm39) probably benign Het
Ubr3 T C 2: 69,813,472 (GRCm39) V1261A probably damaging Het
Zc3h11a A T 1: 133,566,700 (GRCm39) probably null Het
Other mutations in Gpatch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Gpatch1 APN 7 34,976,238 (GRCm39) critical splice acceptor site probably null
IGL01143:Gpatch1 APN 7 35,000,997 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTATTTAGGTGCATGGCGTTTTAA -3'
(R):5'- AACTCCACCCTGTCCTCCAG -3'

Sequencing Primer
(F):5'- AGCTCTGAGTTCATTGAGAGACCC -3'
(R):5'- AGGTTCACTCACGCCAAGGAG -3'
Posted On 2018-09-12