Incidental Mutation 'R6861:Gcn1'
ID 535512
Institutional Source Beutler Lab
Gene Symbol Gcn1
Ensembl Gene ENSMUSG00000041638
Gene Name GCN1 activator of EIF2AK4
Synonyms Gcn1l1, G431004K08Rik, GCN1L
MMRRC Submission 044962-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R6861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115703313-115760713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115749108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1880 (D1880G)
Ref Sequence ENSEMBL: ENSMUSP00000069432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454]
AlphaFold E9PVA8
Predicted Effect probably benign
Transcript: ENSMUST00000064454
AA Change: D1880G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: D1880G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G A 3: 95,588,194 (GRCm39) R598C probably damaging Het
Adra2a T C 19: 54,034,818 (GRCm39) L58P probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Alox5ap A G 5: 149,201,927 (GRCm39) D2G probably damaging Het
Arid1b G A 17: 5,377,961 (GRCm39) V1238M possibly damaging Het
Bank1 A G 3: 135,960,764 (GRCm39) V31A probably benign Het
Bptf G A 11: 106,953,391 (GRCm39) T2117M probably damaging Het
Cadps G A 14: 12,522,401 (GRCm38) R588* probably null Het
Cavin4 A G 4: 48,672,214 (GRCm39) I220V probably benign Het
Cep192 G A 18: 67,974,699 (GRCm39) M1267I probably benign Het
Cers5 G A 15: 99,670,244 (GRCm39) probably benign Het
Cfap65 A T 1: 74,964,274 (GRCm39) I558N probably damaging Het
Cfh A T 1: 140,028,621 (GRCm39) S1025T probably benign Het
Cftr A G 6: 18,268,107 (GRCm39) I689V probably benign Het
Cgrrf1 T C 14: 47,069,785 (GRCm39) I18T probably damaging Het
CK137956 A G 4: 127,864,519 (GRCm39) S37P probably damaging Het
Clca4a T C 3: 144,676,416 (GRCm39) D88G probably benign Het
Col11a1 G A 3: 113,961,141 (GRCm39) G1166D probably damaging Het
Col24a1 G A 3: 145,166,589 (GRCm39) G1075S probably damaging Het
Crispld2 C T 8: 120,752,852 (GRCm39) T299M probably damaging Het
Cyb561a3 T A 19: 10,562,701 (GRCm39) Y114N probably damaging Het
Cyp3a57 T A 5: 145,307,773 (GRCm39) W147R possibly damaging Het
Dnah2 C A 11: 69,346,789 (GRCm39) R2599L possibly damaging Het
Dock1 T A 7: 134,373,207 (GRCm39) S525T probably benign Het
Drc7 T G 8: 95,789,025 (GRCm39) probably null Het
Efhd2 G T 4: 141,587,192 (GRCm39) probably null Het
Epb41l1 A T 2: 156,367,142 (GRCm39) E658D probably benign Het
Evi5 C T 5: 107,896,184 (GRCm39) S753N probably benign Het
Exoc3 A T 13: 74,337,319 (GRCm39) D427E probably benign Het
Fbxw9 A G 8: 85,792,740 (GRCm39) D363G probably damaging Het
Fcer2a T C 8: 3,732,910 (GRCm39) Y277C probably damaging Het
Fstl5 A T 3: 76,229,523 (GRCm39) Y108F probably damaging Het
Gm4924 T A 10: 82,214,948 (GRCm39) Y915* probably null Het
Gpr139 T A 7: 118,743,875 (GRCm39) I237F probably benign Het
Hao2 A G 3: 98,784,498 (GRCm39) L289S probably damaging Het
Hexim1 A G 11: 103,007,793 (GRCm39) S16G probably benign Het
Hmgcs1 T A 13: 120,161,535 (GRCm39) M109K probably damaging Het
Hs3st4 T A 7: 123,996,052 (GRCm39) N239K possibly damaging Het
Hsd3b5 T A 3: 98,529,328 (GRCm39) N101Y probably damaging Het
Idh2 G A 7: 79,747,966 (GRCm39) P245S probably damaging Het
Irx3 A G 8: 92,525,530 (GRCm39) probably benign Het
Lilra5 A T 7: 4,244,931 (GRCm39) D234V probably benign Het
Lrfn5 G A 12: 61,886,476 (GRCm39) S88N probably damaging Het
Lrp2 A T 2: 69,343,721 (GRCm39) S879R possibly damaging Het
Lsm11 A G 11: 45,824,781 (GRCm39) S249P probably benign Het
Ltbp1 C T 17: 75,534,187 (GRCm39) A543V possibly damaging Het
Mbd1 GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,645 (GRCm39) Het
Mier2 C T 10: 79,376,990 (GRCm39) probably benign Het
Mup6 G C 4: 60,004,093 (GRCm39) G70A probably benign Het
Neb A G 2: 52,085,732 (GRCm39) L5258P probably damaging Het
Nlrc5 G A 8: 95,247,857 (GRCm39) probably benign Het
Nr6a1 A T 2: 38,630,597 (GRCm39) F207I possibly damaging Het
Or2y1 A T 11: 49,385,632 (GRCm39) T91S probably benign Het
Or5k17 A T 16: 58,746,867 (GRCm39) D22E probably benign Het
Or8b43 T C 9: 38,360,731 (GRCm39) C188R probably damaging Het
Osbp2 A G 11: 3,665,191 (GRCm39) V51A possibly damaging Het
Papln G T 12: 83,821,723 (GRCm39) C317F probably damaging Het
Pdcd7 T C 9: 65,265,904 (GRCm39) S454P probably damaging Het
Pde4a C T 9: 21,116,597 (GRCm39) T473I probably damaging Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,385 (GRCm39) S279* probably null Het
Rbl1 A G 2: 156,994,887 (GRCm39) Y929H probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall3 C A 18: 81,017,590 (GRCm39) E113* probably null Het
Scn5a A C 9: 119,359,089 (GRCm39) F653V probably damaging Het
Selenok T A 14: 29,692,005 (GRCm39) N14K possibly damaging Het
Slc22a20 T C 19: 6,021,838 (GRCm39) T426A probably benign Het
Slc4a2 T A 5: 24,640,007 (GRCm39) S563T probably damaging Het
Sspo T A 6: 48,464,889 (GRCm39) S3798T probably benign Het
Stag3 G T 5: 138,302,969 (GRCm39) R63L possibly damaging Het
Stard9 A T 2: 120,535,667 (GRCm39) M3975L probably benign Het
Syne2 C A 12: 75,956,040 (GRCm39) T582K probably damaging Het
Synj1 G A 16: 90,760,768 (GRCm39) Q748* probably null Het
Tas2r109 T C 6: 132,957,048 (GRCm39) D294G probably benign Het
Tbl1xr1 C T 3: 22,245,603 (GRCm39) T203M possibly damaging Het
Tbl1xr1 T A 3: 22,245,703 (GRCm39) probably null Het
Tcf7l2 A G 19: 55,730,955 (GRCm39) D19G probably damaging Het
Tecta A G 9: 42,248,633 (GRCm39) V1923A possibly damaging Het
Tg T A 15: 66,560,740 (GRCm39) M1034K probably benign Het
Ttf2 T C 3: 100,876,941 (GRCm39) E8G possibly damaging Het
Vps13b T A 15: 35,576,541 (GRCm39) V983E probably damaging Het
Vps35l A G 7: 118,342,898 (GRCm39) H32R probably damaging Het
Vwa2 T C 19: 56,890,025 (GRCm39) V210A probably benign Het
Xkr6 T A 14: 64,057,093 (GRCm39) Y335N probably benign Het
Zfp97 A G 17: 17,365,437 (GRCm39) H312R probably damaging 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
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
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'- GCTCTGTTCAACTTCTTGGGGAC -3'
(R):5'- TAGCCAGGAAACCCAGTAGG -3'

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