Incidental Mutation 'R1936:Gpatch1'
ID 215803
Institutional Source Beutler Lab
Gene Symbol Gpatch1
Ensembl Gene ENSMUSG00000063808
Gene Name G patch domain containing 1
Synonyms Gpatc1, 1300003A17Rik
MMRRC Submission 039954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 34975969-35017865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34994947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 440 (S440P)
Ref Sequence ENSEMBL: ENSMUSP00000078632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]
AlphaFold Q9DBM1
Predicted Effect probably damaging
Transcript: ENSMUST00000079693
AA Change: S440P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: S440P

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 possibly damaging
Transcript: ENSMUST00000131213
AA Change: S440P

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: S440P

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 0.0671 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAAAAGGCTTGAAGTTGTTGGC -3'
(R):5'- TGCCTCGAGTTGTACCTGTG -3'

Sequencing Primer
(F):5'- CTCTGGTGGTGACTGTCCC -3'
(R):5'- CCTGTGGCCAGTTATGTAAATATGC -3'
Posted On 2014-07-14