Incidental Mutation 'R7171:Gcn1'
ID 558258
Institutional Source Beutler Lab
Gene Symbol Gcn1
Ensembl Gene ENSMUSG00000041638
Gene Name GCN1 activator of EIF2AK4
Synonyms Gcn1l1, G431004K08Rik, GCN1L
MMRRC Submission 045230-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R7171 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 115703313-115760713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115728352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 738 (V738I)
Ref Sequence ENSEMBL: ENSMUSP00000069432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454]
AlphaFold E9PVA8
Predicted Effect probably benign
Transcript: ENSMUST00000064454
AA Change: V738I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: V738I

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
Meta Mutation Damage Score 0.0923 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik T C 2: 154,454,897 (GRCm39) N154S unknown Het
Ank3 C T 10: 69,828,311 (GRCm39) H2327Y Het
Ano6 A G 15: 95,818,172 (GRCm39) Y305C probably damaging Het
Apc2 A G 10: 80,151,170 (GRCm39) T2075A possibly damaging Het
Arl6 A G 16: 59,443,455 (GRCm39) V93A possibly damaging Het
Bcas3 T C 11: 85,474,763 (GRCm39) S790P probably damaging Het
Bcl9l C A 9: 44,416,448 (GRCm39) H211N probably benign Het
Bptf G T 11: 107,022,233 (GRCm39) D172E unknown Het
Card9 T G 2: 26,249,496 (GRCm39) I22L possibly damaging Het
Catsperg1 C A 7: 28,884,637 (GRCm39) G933V probably damaging Het
Catsperg2 T A 7: 29,404,750 (GRCm39) H771L possibly damaging Het
Ccdc66 T C 14: 27,215,229 (GRCm39) N281S possibly damaging Het
Cfap54 A T 10: 92,612,072 (GRCm39) L3162H probably damaging Het
Clca4a A G 3: 144,663,934 (GRCm39) L503P probably benign Het
Cpn1 T C 19: 43,962,470 (GRCm39) N160D probably damaging Het
Ctsh T A 9: 89,949,154 (GRCm39) I206K probably benign Het
Cyb561d1 G A 3: 108,106,679 (GRCm39) T180M probably damaging Het
Dapk1 A T 13: 60,909,599 (GRCm39) D1404V probably damaging Het
Dip2c G T 13: 9,556,684 (GRCm39) R76L probably benign Het
Dnah7c T C 1: 46,719,898 (GRCm39) I2783T probably damaging Het
E130308A19Rik T C 4: 59,690,333 (GRCm39) Y56H probably damaging Het
Efemp2 G T 19: 5,530,285 (GRCm39) A310S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faap24 G A 7: 35,092,279 (GRCm39) Q213* probably null Het
Fam181b G A 7: 92,729,943 (GRCm39) G239S possibly damaging Het
Fancm T C 12: 65,148,394 (GRCm39) W670R probably damaging Het
Fcgbpl1 T A 7: 27,853,944 (GRCm39) L1636* probably null Het
Fmnl1 T C 11: 103,081,224 (GRCm39) Y357H probably damaging Het
Fryl A T 5: 73,279,653 (GRCm39) V215E probably damaging Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Fsip2 T A 2: 82,816,571 (GRCm39) Y4101* probably null Het
Gdf9 C T 11: 53,328,366 (GRCm39) R441C probably damaging Het
Gipc3 C T 10: 81,177,455 (GRCm39) G79E probably damaging Het
Gzmf T A 14: 56,443,391 (GRCm39) I196L probably benign Het
Hectd1 A T 12: 51,806,080 (GRCm39) V1852E probably damaging Het
Hip1r A T 5: 124,134,007 (GRCm39) Q256L probably benign Het
Hmgxb4 T C 8: 75,746,890 (GRCm39) S405P probably damaging Het
Il9r T A 11: 32,142,671 (GRCm39) H294L probably benign Het
Kif12 G A 4: 63,086,931 (GRCm39) T331I probably damaging Het
Krtap8-1 A T 16: 89,284,794 (GRCm39) M1K probably null Het
Lamc2 A T 1: 153,015,495 (GRCm39) C613S probably damaging Het
Lgr4 T A 2: 109,831,314 (GRCm39) N314K probably benign Het
Lpcat2 T C 8: 93,635,894 (GRCm39) I432T probably benign Het
Mfhas1 T C 8: 36,056,146 (GRCm39) V207A probably benign Het
Msh3 T G 13: 92,485,806 (GRCm39) T173P probably benign Het
Mup15 T A 4: 61,356,505 (GRCm39) M87L probably benign Het
N4bp2 T C 5: 65,965,365 (GRCm39) V1138A probably benign Het
Noc2l T C 4: 156,326,179 (GRCm39) V422A probably benign Het
Notch3 C T 17: 32,377,936 (GRCm39) G74D probably damaging Het
Ocstamp T A 2: 165,240,081 (GRCm39) K35I probably benign Het
Or12k7 T C 2: 36,958,400 (GRCm39) F28L possibly damaging Het
Or52w1 A G 7: 105,017,968 (GRCm39) H145R probably benign Het
Or5p58 A G 7: 107,694,342 (GRCm39) V145A probably benign Het
Or9a2 T G 6: 41,748,961 (GRCm39) T91P probably benign Het
Plekhh2 T A 17: 84,829,216 (GRCm39) V29D probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Rad54l2 C T 9: 106,590,677 (GRCm39) R483H probably damaging Het
Rapgef6 T A 11: 54,567,189 (GRCm39) D1128E possibly damaging Het
Rhbdl2 T A 4: 123,708,049 (GRCm39) I86N possibly damaging Het
Rims1 C A 1: 22,498,740 (GRCm39) R68L Het
Rnf157 A G 11: 116,253,199 (GRCm39) F70L possibly damaging Het
Rtp3 C T 9: 110,815,009 (GRCm39) C452Y unknown Het
S100a14 A T 3: 90,435,069 (GRCm39) K27* probably null Het
Scai C T 2: 38,996,948 (GRCm39) G282D possibly damaging Het
Sclt1 A T 3: 41,672,195 (GRCm39) I132N probably benign Het
Serpinf1 T A 11: 75,308,811 (GRCm39) Q2L possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc16a10 C G 10: 39,913,255 (GRCm39) E484D probably benign Het
Slc1a5 T A 7: 16,531,463 (GRCm39) D489E probably damaging Het
Slx4 C T 16: 3,808,650 (GRCm39) R430H probably benign Het
Teddm1b A T 1: 153,750,679 (GRCm39) I163F probably damaging Het
Tmem171 A T 13: 98,828,744 (GRCm39) C135* probably null Het
Tmem82 C T 4: 141,342,284 (GRCm39) R306H possibly damaging Het
Tmem94 T A 11: 115,681,781 (GRCm39) probably null Het
Trpm2 A C 10: 77,759,848 (GRCm39) L1096R probably damaging Het
Trrap T A 5: 144,730,859 (GRCm39) L780Q probably damaging Het
Txlnb A G 10: 17,718,732 (GRCm39) D521G probably benign Het
Usp7 T C 16: 8,534,390 (GRCm39) D59G probably benign Het
Vcan G A 13: 89,873,710 (GRCm39) T48I probably damaging Het
Vmn1r45 A G 6: 89,910,316 (GRCm39) L218P probably damaging Het
Wdr25 A T 12: 108,990,922 (GRCm39) T370S 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
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
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'- ATGTGTAGGAAGCCAGGCTC -3'
(R):5'- CCTGTGTCCATCAAACAGGTG -3'

Sequencing Primer
(F):5'- TAGGAAGCCAGGCTCAGTCTG -3'
(R):5'- TGTCCATCAAACAGGTGTGAAAAGC -3'
Posted On 2019-06-26