Incidental Mutation 'R5227:Gpatch1'
ID 402676
Institutional Source Beutler Lab
Gene Symbol Gpatch1
Ensembl Gene ENSMUSG00000063808
Gene Name G patch domain containing 1
Synonyms Gpatc1, 1300003A17Rik
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 34975969-35017865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35008776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 82 (N82D)
Ref Sequence ENSEMBL: ENSMUSP00000121711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]
AlphaFold Q9DBM1
Predicted Effect probably benign
Transcript: ENSMUST00000079693
AA Change: N82D

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: N82D

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
AA Change: N82D

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121711
Gene: ENSMUSG00000063808
AA Change: N82D

DomainStartEndE-ValueType
Pfam:DUF1604 29 98 2.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131213
AA Change: N82D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: N82D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153778
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V 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
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
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'- AGGGCACAAGCATAGCATC -3'
(R):5'- ACTACTTGCTCATGACCTGGAG -3'

Sequencing Primer
(F):5'- CACAAGCATAGCATCACAGAGGTG -3'
(R):5'- GGGTCTCACTATATAGACCAGGC -3'
Posted On 2016-07-22