Incidental Mutation 'R0630:Gcn1'
ID 57824
Institutional Source Beutler Lab
Gene Symbol Gcn1
Ensembl Gene ENSMUSG00000041638
Gene Name GCN1 activator of EIF2AK4
Synonyms Gcn1l1, G431004K08Rik, GCN1L
MMRRC Submission 038819-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0630 (G1)
Quality Score 145
Status Validated
Chromosome 5
Chromosomal Location 115703313-115760713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115719148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 334 (A334T)
Ref Sequence ENSEMBL: ENSMUSP00000069432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454]
AlphaFold E9PVA8
Predicted Effect probably benign
Transcript: ENSMUST00000064454
AA Change: A334T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: A334T

DomainStartEndE-ValueType
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 117 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
Pfam:DUF3554 357 705 2e-61 PFAM
coiled coil region 806 866 N/A INTRINSIC
Blast:ARM 1028 1068 6e-11 BLAST
coiled coil region 1180 1203 N/A INTRINSIC
low complexity region 1457 1466 N/A INTRINSIC
low complexity region 1501 1510 N/A INTRINSIC
ARM 1527 1567 3.69e1 SMART
Blast:ARM 1602 1644 1e-5 BLAST
Blast:EZ_HEAT 1671 1704 1e-7 BLAST
low complexity region 1926 1934 N/A INTRINSIC
low complexity region 1956 1972 N/A INTRINSIC
ARM 2034 2070 9.27e1 SMART
low complexity region 2326 2334 N/A INTRINSIC
ARM 2416 2455 2.16e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184777
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 97% (108/111)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,766,104 (GRCm39) probably benign Het
4930562C15Rik T A 16: 4,668,803 (GRCm39) N731K possibly damaging Het
Adgra1 A T 7: 139,432,500 (GRCm39) K113* probably null Het
Adgrl2 T C 3: 148,544,880 (GRCm39) I659M probably damaging Het
Adm G T 7: 110,227,755 (GRCm39) R41L probably damaging Het
Aimp2 T C 5: 143,843,419 (GRCm39) E97G probably benign Het
Aox1 T C 1: 58,376,480 (GRCm39) probably benign Het
Arhgap20 G A 9: 51,760,684 (GRCm39) R809H probably damaging Het
Arsa T C 15: 89,358,207 (GRCm39) probably benign Het
Atg2a G T 19: 6,294,547 (GRCm39) A88S probably damaging Het
Atm G A 9: 53,442,922 (GRCm39) probably benign Het
Atp1a2 A T 1: 172,118,842 (GRCm39) I100N possibly damaging Het
Camta2 G C 11: 70,569,131 (GRCm39) L605V probably damaging Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Ccdc60 A G 5: 116,274,440 (GRCm39) V388A possibly damaging Het
Cdk14 C T 5: 5,185,422 (GRCm39) probably benign Het
Cdyl2 C T 8: 117,350,774 (GRCm39) G119E probably benign Het
Celsr3 A G 9: 108,704,891 (GRCm39) N458S probably damaging Het
Chd3 A C 11: 69,238,021 (GRCm39) H1808Q probably damaging Het
Cntnap2 T C 6: 46,965,694 (GRCm39) V835A probably damaging Het
Col4a1 C A 8: 11,249,889 (GRCm39) probably benign Het
Cpsf1 A G 15: 76,486,171 (GRCm39) V357A probably damaging Het
Cryzl1 A G 16: 91,504,107 (GRCm39) probably benign Het
Cts8 T C 13: 61,401,256 (GRCm39) K90R possibly damaging Het
Cux1 A G 5: 136,315,689 (GRCm39) V1117A probably damaging Het
Dbx1 T C 7: 49,282,444 (GRCm39) T254A probably damaging Het
Dgki C A 6: 36,977,133 (GRCm39) C659F probably damaging Het
Dnajc1 T G 2: 18,236,612 (GRCm39) D332A probably damaging Het
Dock8 C A 19: 25,038,524 (GRCm39) T70K probably benign Het
Dsc1 T A 18: 20,218,919 (GRCm39) T828S probably damaging Het
Dst T G 1: 34,232,531 (GRCm39) V3510G probably benign Het
Dst T C 1: 34,238,554 (GRCm39) V1738A probably damaging Het
Ehmt2 A G 17: 35,118,818 (GRCm39) T167A probably benign Het
Eri2 A T 7: 119,385,640 (GRCm39) V287E probably benign Het
Fat4 T A 3: 39,054,321 (GRCm39) L4121H probably damaging Het
Fbn1 T A 2: 125,236,690 (GRCm39) D330V possibly damaging Het
Fign A G 2: 63,810,485 (GRCm39) Y262H possibly damaging Het
Fnd3c2 C T X: 105,282,763 (GRCm39) M593I probably benign Het
Fndc7 T A 3: 108,783,931 (GRCm39) E226V probably damaging Het
Gad2 A T 2: 22,580,348 (GRCm39) Q583L probably benign Het
Ggt1 A G 10: 75,421,336 (GRCm39) probably null Het
Gli2 C T 1: 118,769,648 (GRCm39) G635R possibly damaging Het
Gm10253 T C 3: 88,646,420 (GRCm39) E93G unknown Het
Gm10428 A G 11: 62,644,256 (GRCm39) probably benign Het
Gm7104 T C 12: 88,252,479 (GRCm39) noncoding transcript Het
Gm8258 T G 5: 104,924,385 (GRCm39) noncoding transcript Het
Gpr107 A G 2: 31,104,309 (GRCm39) N538S possibly damaging Het
Hars1 T C 18: 36,904,442 (GRCm39) E190G probably damaging Het
Hoxc10 C T 15: 102,875,917 (GRCm39) P209S probably benign Het
Ighg3 T C 12: 113,323,714 (GRCm39) probably benign Het
Igsf10 C A 3: 59,233,483 (GRCm39) W1750L probably damaging Het
Igsf5 C A 16: 96,174,023 (GRCm39) probably benign Het
Itga10 T C 3: 96,563,615 (GRCm39) probably benign Het
Ldhd T C 8: 112,353,934 (GRCm39) K422R probably benign Het
Masp1 T C 16: 23,271,169 (GRCm39) K693R probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Mbd1 T A 18: 74,409,798 (GRCm39) probably benign Het
Mdm4 G A 1: 132,919,491 (GRCm39) T459I possibly damaging Het
Megf10 A T 18: 57,421,067 (GRCm39) I902F probably benign Het
Mta3 A G 17: 84,022,056 (GRCm39) N37S probably damaging Het
Mterf3 T A 13: 67,060,372 (GRCm39) Y372F probably damaging Het
Nbeal2 A G 9: 110,465,102 (GRCm39) probably benign Het
Nbr1 T C 11: 101,457,913 (GRCm39) probably benign Het
Ndst3 A G 3: 123,355,720 (GRCm39) M103T probably damaging Het
Notch3 C A 17: 32,366,446 (GRCm39) probably benign Het
Npr2 A T 4: 43,641,219 (GRCm39) E415V probably benign Het
Or2n1c A G 17: 38,519,304 (GRCm39) H56R probably damaging Het
Or4k40 T C 2: 111,251,191 (GRCm39) Y35C probably damaging Het
Or52h9 G C 7: 104,202,998 (GRCm39) V291L probably benign Het
Or5be3 A T 2: 86,863,653 (GRCm39) M304K probably benign Het
Or8b50 T A 9: 38,518,192 (GRCm39) F144I probably benign Het
Pappa2 T A 1: 158,660,343 (GRCm39) D1246V probably benign Het
Pcdhgc5 A T 18: 37,954,931 (GRCm39) D735V probably benign Het
Pik3ca A G 3: 32,504,176 (GRCm39) Y622C possibly damaging Het
Plppr2 A G 9: 21,859,197 (GRCm39) D438G probably benign Het
Ppfibp2 A T 7: 107,337,806 (GRCm39) probably null Het
Prdm15 A T 16: 97,638,907 (GRCm39) L77Q probably null Het
Prdm8 T C 5: 98,332,380 (GRCm39) S94P probably damaging Het
Prkdc A T 16: 15,628,665 (GRCm39) Q3470L probably damaging Het
Prl3c1 T C 13: 27,384,674 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,688,076 (GRCm39) H206L probably benign Het
Rack1 G A 11: 48,694,804 (GRCm39) probably benign Het
Rere T C 4: 150,703,545 (GRCm39) L1509P probably damaging Het
Rgma T A 7: 73,067,366 (GRCm39) L301Q probably damaging Het
Rgs6 T A 12: 83,094,324 (GRCm39) probably benign Het
Rictor C A 15: 6,823,973 (GRCm39) R1613S probably damaging Het
Ripk1 T G 13: 34,211,764 (GRCm39) F358C probably damaging Het
Robo2 T C 16: 73,713,093 (GRCm39) D1217G probably benign Het
Shc2 A T 10: 79,461,975 (GRCm39) W357R probably null Het
Slc25a45 T C 19: 5,930,556 (GRCm39) L81P probably damaging Het
Slc9c1 A T 16: 45,363,483 (GRCm39) probably benign Het
Spats2 T C 15: 99,083,909 (GRCm39) probably null Het
Stac3 A T 10: 127,343,632 (GRCm39) E258V probably damaging Het
Thada A G 17: 84,536,603 (GRCm39) S1648P probably damaging Het
Tmem168 T C 6: 13,583,064 (GRCm39) T222A probably benign Het
Tmtc4 T C 14: 123,163,502 (GRCm39) probably benign Het
Trappc14 A G 5: 138,260,551 (GRCm39) S292P probably damaging Het
Trim38 T G 13: 23,975,115 (GRCm39) Y351* probably null Het
Trip12 T C 1: 84,771,636 (GRCm39) R213G possibly damaging Het
Vav3 C T 3: 109,331,328 (GRCm39) R76W probably damaging Het
Vmn1r63 G T 7: 5,806,263 (GRCm39) P123H probably damaging Het
Wdr5 A G 2: 27,410,619 (GRCm39) N130S probably benign Het
Wnk4 C A 11: 101,156,212 (GRCm39) R27S probably damaging Het
Ykt6 G A 11: 5,909,323 (GRCm39) S44N probably benign Het
Ythdc1 T A 5: 86,957,207 (GRCm39) probably benign Het
Other mutations in Gcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Gcn1 APN 5 115,726,202 (GRCm39) splice site probably benign
IGL00974:Gcn1 APN 5 115,751,852 (GRCm39) missense possibly damaging 0.88
IGL01566:Gcn1 APN 5 115,749,117 (GRCm39) missense probably damaging 1.00
IGL01843:Gcn1 APN 5 115,757,759 (GRCm39) missense probably damaging 1.00
IGL01885:Gcn1 APN 5 115,714,174 (GRCm39) splice site probably null
IGL02081:Gcn1 APN 5 115,723,930 (GRCm39) missense probably damaging 1.00
IGL02118:Gcn1 APN 5 115,748,938 (GRCm39) missense probably damaging 1.00
IGL02150:Gcn1 APN 5 115,747,927 (GRCm39) missense probably damaging 1.00
IGL02190:Gcn1 APN 5 115,752,183 (GRCm39) missense probably damaging 1.00
IGL02219:Gcn1 APN 5 115,751,826 (GRCm39) missense possibly damaging 0.68
IGL02507:Gcn1 APN 5 115,723,940 (GRCm39) missense probably benign 0.11
IGL02644:Gcn1 APN 5 115,713,250 (GRCm39) missense probably benign
IGL02678:Gcn1 APN 5 115,751,814 (GRCm39) missense probably damaging 0.99
IGL02748:Gcn1 APN 5 115,748,859 (GRCm39) splice site probably null
IGL02755:Gcn1 APN 5 115,742,065 (GRCm39) splice site probably null
IGL02896:Gcn1 APN 5 115,757,707 (GRCm39) splice site probably benign
cusp UTSW 5 115,749,119 (GRCm39) missense probably damaging 1.00
farthing UTSW 5 115,714,167 (GRCm39) splice site probably benign
IGL03147:Gcn1 UTSW 5 115,748,917 (GRCm39) missense possibly damaging 0.78
R0362:Gcn1 UTSW 5 115,714,167 (GRCm39) splice site probably benign
R0540:Gcn1 UTSW 5 115,727,015 (GRCm39) missense probably benign 0.00
R0569:Gcn1 UTSW 5 115,733,118 (GRCm39) missense probably benign 0.00
R0570:Gcn1 UTSW 5 115,730,480 (GRCm39) missense probably damaging 1.00
R0584:Gcn1 UTSW 5 115,733,074 (GRCm39) missense probably damaging 1.00
R0656:Gcn1 UTSW 5 115,727,362 (GRCm39) missense probably benign 0.27
R0801:Gcn1 UTSW 5 115,729,065 (GRCm39) missense probably benign 0.12
R0890:Gcn1 UTSW 5 115,717,852 (GRCm39) missense possibly damaging 0.77
R1400:Gcn1 UTSW 5 115,752,220 (GRCm39) missense probably damaging 1.00
R1485:Gcn1 UTSW 5 115,712,676 (GRCm39) missense probably benign
R1574:Gcn1 UTSW 5 115,753,611 (GRCm39) missense probably benign
R1574:Gcn1 UTSW 5 115,753,611 (GRCm39) missense probably benign
R1673:Gcn1 UTSW 5 115,720,356 (GRCm39) missense probably benign
R1894:Gcn1 UTSW 5 115,727,174 (GRCm39) missense probably damaging 1.00
R2114:Gcn1 UTSW 5 115,736,884 (GRCm39) missense probably benign 0.35
R2116:Gcn1 UTSW 5 115,736,884 (GRCm39) missense probably benign 0.35
R2117:Gcn1 UTSW 5 115,736,884 (GRCm39) missense probably benign 0.35
R2152:Gcn1 UTSW 5 115,747,888 (GRCm39) missense probably benign 0.07
R2162:Gcn1 UTSW 5 115,730,191 (GRCm39) missense probably benign 0.18
R2216:Gcn1 UTSW 5 115,731,720 (GRCm39) missense probably benign
R2218:Gcn1 UTSW 5 115,757,720 (GRCm39) missense probably benign 0.04
R2278:Gcn1 UTSW 5 115,749,234 (GRCm39) missense probably damaging 1.00
R2280:Gcn1 UTSW 5 115,750,789 (GRCm39) missense probably damaging 1.00
R3719:Gcn1 UTSW 5 115,717,876 (GRCm39) missense probably benign 0.03
R3729:Gcn1 UTSW 5 115,721,453 (GRCm39) splice site probably benign
R3833:Gcn1 UTSW 5 115,730,191 (GRCm39) missense probably benign 0.18
R3932:Gcn1 UTSW 5 115,725,893 (GRCm39) missense probably benign 0.11
R4067:Gcn1 UTSW 5 115,737,147 (GRCm39) missense probably damaging 1.00
R4152:Gcn1 UTSW 5 115,751,413 (GRCm39) critical splice acceptor site probably null
R4179:Gcn1 UTSW 5 115,726,109 (GRCm39) missense probably benign 0.00
R4292:Gcn1 UTSW 5 115,714,207 (GRCm39) missense possibly damaging 0.49
R4350:Gcn1 UTSW 5 115,741,389 (GRCm39) missense probably damaging 1.00
R4493:Gcn1 UTSW 5 115,732,203 (GRCm39) missense probably benign
R4672:Gcn1 UTSW 5 115,744,579 (GRCm39) missense probably damaging 1.00
R4749:Gcn1 UTSW 5 115,752,461 (GRCm39) missense probably benign
R4753:Gcn1 UTSW 5 115,754,537 (GRCm39) missense probably benign
R4826:Gcn1 UTSW 5 115,731,752 (GRCm39) missense probably benign
R4873:Gcn1 UTSW 5 115,714,229 (GRCm39) missense possibly damaging 0.92
R4875:Gcn1 UTSW 5 115,714,229 (GRCm39) missense possibly damaging 0.92
R4932:Gcn1 UTSW 5 115,730,203 (GRCm39) missense probably benign 0.00
R4992:Gcn1 UTSW 5 115,737,225 (GRCm39) missense probably benign 0.29
R5049:Gcn1 UTSW 5 115,744,730 (GRCm39) missense probably damaging 1.00
R5211:Gcn1 UTSW 5 115,757,371 (GRCm39) missense probably benign 0.04
R5226:Gcn1 UTSW 5 115,726,126 (GRCm39) missense probably benign 0.01
R5338:Gcn1 UTSW 5 115,721,462 (GRCm39) missense probably benign 0.00
R5914:Gcn1 UTSW 5 115,748,194 (GRCm39) synonymous silent
R5932:Gcn1 UTSW 5 115,730,435 (GRCm39) missense possibly damaging 0.77
R6422:Gcn1 UTSW 5 115,747,603 (GRCm39) missense probably damaging 1.00
R6435:Gcn1 UTSW 5 115,749,081 (GRCm39) critical splice acceptor site probably null
R6607:Gcn1 UTSW 5 115,747,537 (GRCm39) missense probably damaging 0.98
R6724:Gcn1 UTSW 5 115,747,217 (GRCm39) splice site probably null
R6861:Gcn1 UTSW 5 115,749,108 (GRCm39) missense probably benign
R6875:Gcn1 UTSW 5 115,726,169 (GRCm39) missense probably damaging 1.00
R6910:Gcn1 UTSW 5 115,744,597 (GRCm39) missense probably benign 0.42
R6975:Gcn1 UTSW 5 115,751,518 (GRCm39) missense probably damaging 1.00
R7027:Gcn1 UTSW 5 115,754,605 (GRCm39) critical splice donor site probably null
R7038:Gcn1 UTSW 5 115,749,203 (GRCm39) missense probably damaging 1.00
R7171:Gcn1 UTSW 5 115,728,352 (GRCm39) missense probably benign 0.02
R7276:Gcn1 UTSW 5 115,749,119 (GRCm39) missense probably damaging 1.00
R7456:Gcn1 UTSW 5 115,743,005 (GRCm39) nonsense probably null
R7473:Gcn1 UTSW 5 115,719,863 (GRCm39) missense probably benign 0.09
R7517:Gcn1 UTSW 5 115,757,755 (GRCm39) missense probably benign 0.01
R7714:Gcn1 UTSW 5 115,733,359 (GRCm39) missense probably damaging 0.97
R7752:Gcn1 UTSW 5 115,753,627 (GRCm39) missense probably damaging 1.00
R7812:Gcn1 UTSW 5 115,731,751 (GRCm39) missense possibly damaging 0.91
R7922:Gcn1 UTSW 5 115,752,527 (GRCm39) missense probably benign
R8070:Gcn1 UTSW 5 115,727,057 (GRCm39) missense probably benign 0.09
R8218:Gcn1 UTSW 5 115,719,588 (GRCm39) missense probably benign 0.00
R8329:Gcn1 UTSW 5 115,747,921 (GRCm39) missense probably damaging 0.99
R8413:Gcn1 UTSW 5 115,717,698 (GRCm39) missense probably benign 0.00
R8795:Gcn1 UTSW 5 115,752,454 (GRCm39) missense probably benign 0.02
R8802:Gcn1 UTSW 5 115,747,942 (GRCm39) missense probably damaging 1.00
R8899:Gcn1 UTSW 5 115,717,220 (GRCm39) missense probably benign 0.04
R8946:Gcn1 UTSW 5 115,733,404 (GRCm39) missense probably benign 0.02
R8963:Gcn1 UTSW 5 115,727,153 (GRCm39) missense probably benign 0.25
R9006:Gcn1 UTSW 5 115,719,566 (GRCm39) missense probably benign 0.22
R9163:Gcn1 UTSW 5 115,742,944 (GRCm39) missense probably benign
R9177:Gcn1 UTSW 5 115,719,867 (GRCm39) missense probably benign 0.35
R9187:Gcn1 UTSW 5 115,752,177 (GRCm39) missense probably damaging 1.00
R9411:Gcn1 UTSW 5 115,733,098 (GRCm39) missense possibly damaging 0.87
R9541:Gcn1 UTSW 5 115,754,416 (GRCm39) missense probably benign 0.00
R9574:Gcn1 UTSW 5 115,713,341 (GRCm39) missense possibly damaging 0.89
R9630:Gcn1 UTSW 5 115,741,349 (GRCm39) missense probably damaging 0.99
R9651:Gcn1 UTSW 5 115,747,665 (GRCm39) critical splice donor site probably null
R9761:Gcn1 UTSW 5 115,729,064 (GRCm39) missense probably benign 0.05
R9765:Gcn1 UTSW 5 115,735,131 (GRCm39) nonsense probably null
Z1177:Gcn1 UTSW 5 115,752,208 (GRCm39) missense probably damaging 0.99
Z1191:Gcn1 UTSW 5 115,713,352 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GTGTAATCCTGGAAACCCCGTGATG -3'
(R):5'- TTCTTAAAGACACGGACACTGCCC -3'

Sequencing Primer
(F):5'- TTGATAGTTGAGGTCAGAGAGCC -3'
(R):5'- GACACTGCCCTCCGTTCG -3'
Posted On 2013-07-11