Incidental Mutation 'R4672:Gcn1'
ID 348516
Institutional Source Beutler Lab
Gene Symbol Gcn1
Ensembl Gene ENSMUSG00000041638
Gene Name GCN1 activator of EIF2AK4
Synonyms Gcn1l1, G431004K08Rik, GCN1L
MMRRC Submission 041927-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R4672 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 115703313-115760713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115744579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1592 (T1592A)
Ref Sequence ENSEMBL: ENSMUSP00000069432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454]
AlphaFold E9PVA8
Predicted Effect probably damaging
Transcript: ENSMUST00000064454
AA Change: T1592A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: T1592A

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: ENSMUST00000094427
SMART Domains Protein: ENSMUSP00000091994
Gene: ENSMUSG00000041638

DomainStartEndE-ValueType
Pfam:HEAT 42 72 5.8e-5 PFAM
low complexity region 310 318 N/A INTRINSIC
Pfam:HEAT_EZ 326 374 2.2e-5 PFAM
Blast:EZ_HEAT 403 439 1e-15 BLAST
Pfam:HEAT_EZ 703 757 1.3e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151030
AA Change: D1193G
Meta Mutation Damage Score 0.2559 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (113/115)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,962,702 (GRCm39) L483F possibly damaging Het
Abca8b A G 11: 109,827,274 (GRCm39) F1507L possibly damaging Het
Adamdec1 C A 14: 68,815,353 (GRCm39) E104* probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alppl2 T C 1: 87,017,187 (GRCm39) probably benign Het
Aplnr A G 2: 84,967,524 (GRCm39) Y183C probably damaging Het
Atm G A 9: 53,433,501 (GRCm39) R250W probably damaging Het
B4galt7 T C 13: 55,757,132 (GRCm39) L275P probably damaging Het
Bltp1 A G 3: 36,944,139 (GRCm39) *330W probably null Het
Ccdc178 G A 18: 22,283,501 (GRCm39) Q10* probably null Het
Ccr9 T C 9: 123,608,752 (GRCm39) Y145H probably damaging Het
Cd209f C T 8: 4,153,685 (GRCm39) G188D probably damaging Het
Cep70 T A 9: 99,136,365 (GRCm39) S23T possibly damaging Het
Cpped1 C A 16: 11,623,238 (GRCm39) E294* probably null Het
Crisp1 T A 17: 40,605,404 (GRCm39) probably null Het
Disp1 T C 1: 182,880,215 (GRCm39) probably null Het
Dlg2 A T 7: 91,935,743 (GRCm39) M624L probably damaging Het
Elf2 A G 3: 51,163,855 (GRCm39) V558A probably damaging Het
Eno2 T C 6: 124,743,109 (GRCm39) D209G probably damaging Het
Fam187b G A 7: 30,676,968 (GRCm39) R159H probably damaging Het
Fh1 G A 1: 175,431,617 (GRCm39) A423V probably benign Het
Frg1 C T 8: 41,853,846 (GRCm39) D164N probably benign Het
Fsbp T G 4: 11,579,841 (GRCm39) N36K probably benign Het
Gimap3 A G 6: 48,742,687 (GRCm39) I81T probably damaging Het
Gjb6 C T 14: 57,362,235 (GRCm39) V9I probably benign Het
Gkap1 T C 13: 58,411,770 (GRCm39) S68G possibly damaging Het
Gpatch8 A T 11: 102,369,784 (GRCm39) S1251R probably damaging Het
Gria4 A G 9: 4,664,981 (GRCm39) F92L possibly damaging Het
H2-Q1 C A 17: 35,539,906 (GRCm39) D58E probably damaging Het
Hs1bp3 G T 12: 8,391,983 (GRCm39) G362* probably null Het
Igfn1 T A 1: 135,893,107 (GRCm39) H2114L possibly damaging Het
Igkv12-98 A G 6: 68,547,940 (GRCm39) Q22R probably benign Het
Ing3 A G 6: 21,965,729 (GRCm39) probably null Het
Insr C T 8: 3,217,501 (GRCm39) probably null Het
Kdm3b T C 18: 34,941,630 (GRCm39) S374P probably benign Het
Kif14 A C 1: 136,449,016 (GRCm39) Q1472P probably benign Het
Kif14 G T 1: 136,449,017 (GRCm39) Q1472H probably benign Het
Knstrn A G 2: 118,664,512 (GRCm39) E202G probably damaging Het
Knstrn G T 2: 118,664,513 (GRCm39) E202D possibly damaging Het
Krt12 A G 11: 99,309,509 (GRCm39) probably benign Het
Lgi3 A T 14: 70,771,897 (GRCm39) I195F possibly damaging Het
Lima1 T C 15: 99,741,590 (GRCm39) N29D probably damaging Het
Liph T C 16: 21,802,806 (GRCm39) I88V probably benign Het
Lrrk1 A G 7: 65,929,120 (GRCm39) S86P probably benign Het
Lsamp A G 16: 41,775,697 (GRCm39) R166G probably damaging Het
Mamdc2 T A 19: 23,328,148 (GRCm39) N407Y probably damaging Het
Mast3 CATA CA 8: 71,237,441 (GRCm39) probably null Het
Megf6 T A 4: 154,333,909 (GRCm39) N212K probably damaging Het
Met A C 6: 17,571,803 (GRCm39) D1374A probably benign Het
Mrc2 A G 11: 105,233,923 (GRCm39) T902A probably benign Het
Mroh3 T A 1: 136,118,713 (GRCm39) T535S probably benign Het
Muc1 G T 3: 89,139,384 (GRCm39) V595L probably damaging Het
Myh2 T A 11: 67,079,303 (GRCm39) L957Q probably damaging Het
Myorg T A 4: 41,499,061 (GRCm39) M190L probably benign Het
Ncl A T 1: 86,284,324 (GRCm39) D257E probably benign Het
Nipbl T A 15: 8,332,468 (GRCm39) D2263V probably damaging Het
Optc C A 1: 133,825,555 (GRCm39) V324L possibly damaging Het
Or4k15 A G 14: 50,364,714 (GRCm39) N227D probably benign Het
Or4k42 A T 2: 111,319,902 (GRCm39) N200K possibly damaging Het
Or7g35 A G 9: 19,496,726 (GRCm39) K298E possibly damaging Het
Osbpl9 A G 4: 108,921,806 (GRCm39) I604T possibly damaging Het
Otog C A 7: 45,939,210 (GRCm39) A2080D probably damaging Het
Parp6 G C 9: 59,547,393 (GRCm39) R460P probably damaging Het
Phactr4 G T 4: 132,098,017 (GRCm39) P417Q probably damaging Het
Pigt T C 2: 164,339,498 (GRCm39) probably benign Het
Plekha5 A G 6: 140,470,655 (GRCm39) I99V probably damaging Het
Plxna3 T G X: 73,382,554 (GRCm39) probably null Het
Ppp2r1b G A 9: 50,779,019 (GRCm39) M362I probably damaging Het
Pramel34 T A 5: 93,784,182 (GRCm39) R230S probably damaging Het
Rad51 A G 2: 118,954,327 (GRCm39) I136V probably benign Het
Rad54b T A 4: 11,609,449 (GRCm39) H633Q probably benign Het
Rasal2 A G 1: 157,071,231 (GRCm39) F41S probably benign Het
Reep3 T A 10: 66,857,629 (GRCm39) H154L probably benign Het
Rp1l1 T G 14: 64,268,719 (GRCm39) V1435G probably damaging Het
Rps6ka5 C A 12: 100,620,546 (GRCm39) K125N possibly damaging Het
Rsad1 A T 11: 94,434,444 (GRCm39) M330K probably damaging Het
Scand1 A G 2: 156,153,850 (GRCm39) probably null Het
Setd6 A G 8: 96,444,640 (GRCm39) H111R probably null Het
Slc27a3 T C 3: 90,294,953 (GRCm39) N368S possibly damaging Het
Slc38a2 T C 15: 96,596,518 (GRCm39) T32A probably benign Het
Smg7 A G 1: 152,721,164 (GRCm39) S683P probably damaging Het
Smyd2 A T 1: 189,642,101 (GRCm39) L62M probably damaging Het
Sox5 T C 6: 143,779,075 (GRCm39) Y687C probably damaging Het
Spaca6 T A 17: 18,057,005 (GRCm39) C53* probably null Het
Spata31e4 T C 13: 50,857,208 (GRCm39) Y949H probably benign Het
Spire2 T C 8: 124,084,850 (GRCm39) V230A probably benign Het
Sptbn2 G T 19: 4,782,524 (GRCm39) V487L probably benign Het
Stk3 T A 15: 35,099,603 (GRCm39) I110L probably benign Het
Stox2 T A 8: 47,645,141 (GRCm39) Y773F probably damaging Het
Tbrg1 C A 9: 37,562,632 (GRCm39) A259S probably damaging Het
Tnfsf18 C A 1: 161,331,307 (GRCm39) D152E probably benign Het
Tpr G A 1: 150,299,318 (GRCm39) A1173T probably benign Het
Trrap T C 5: 144,722,290 (GRCm39) L271P probably damaging Het
Ttn G T 2: 76,657,419 (GRCm39) probably benign Het
U2surp A G 9: 95,375,198 (GRCm39) S192P possibly damaging Het
Ubr4 C T 4: 139,138,027 (GRCm39) S1128L probably damaging Het
Ucma G A 2: 4,981,465 (GRCm39) probably null Het
Urb1 A T 16: 90,569,522 (GRCm39) D1401E probably benign Het
Usp54 A T 14: 20,631,597 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,056 (GRCm39) Y270H probably damaging Het
Vmn1r90 T A 7: 14,295,493 (GRCm39) T202S probably benign Het
Vmn2r88 A G 14: 51,655,612 (GRCm39) Y616C probably damaging Het
Vmn2r95 T A 17: 18,672,413 (GRCm39) W717R probably damaging Het
Zcchc4 C A 5: 52,953,947 (GRCm39) T209K probably benign Het
Zfp955b T A 17: 33,524,233 (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
R0630:Gcn1 UTSW 5 115,719,148 (GRCm39) missense probably benign 0.06
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
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'- TCATCCTGTTGAAACTAGCCC -3'
(R):5'- TACCTTCTGGTCTGTCAGGGAG -3'

Sequencing Primer
(F):5'- GAAACTAGCCCGTTCTCAGTG -3'
(R):5'- GGGAGTACATGTTGCCAATAATCTGC -3'
Posted On 2015-10-08