Incidental Mutation 'IGL02678:Gcn1'
ID 303234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcn1
Ensembl Gene ENSMUSG00000041638
Gene Name GCN1 activator of EIF2AK4
Synonyms Gcn1l1, G431004K08Rik, GCN1L
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # IGL02678
Quality Score
Status
Chromosome 5
Chromosomal Location 115703313-115760713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115751814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2063 (D2063G)
Ref Sequence ENSEMBL: ENSMUSP00000069432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454]
AlphaFold E9PVA8
Predicted Effect probably damaging
Transcript: ENSMUST00000064454
AA Change: D2063G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: D2063G

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: ENSMUST00000137523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139933
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,035,867 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,410,177 (GRCm39) E272G probably damaging Het
Alcam G A 16: 52,094,401 (GRCm39) P416S probably damaging Het
B3galt1 A G 2: 67,949,254 (GRCm39) H323R probably benign Het
Bahcc1 G A 11: 120,163,697 (GRCm39) S665N probably damaging Het
Birc6 T C 17: 74,956,898 (GRCm39) S3631P probably damaging Het
Capn3 A C 2: 120,333,479 (GRCm39) N621T probably damaging Het
Cblif T C 19: 11,725,839 (GRCm39) M43T probably damaging Het
Ccdc162 G A 10: 41,437,151 (GRCm39) H480Y probably damaging Het
Ccr2 T A 9: 123,906,783 (GRCm39) D354E probably benign Het
Cdc42bpb T G 12: 111,292,530 (GRCm39) D335A probably damaging Het
Cdcp3 A G 7: 130,830,646 (GRCm39) Y360C probably damaging Het
Chrd G T 16: 20,552,770 (GRCm39) R89L probably damaging Het
Cops2 T C 2: 125,686,831 (GRCm39) R91G probably benign Het
Ddi1 T C 9: 6,266,106 (GRCm39) T88A probably benign Het
Dnai1 A C 4: 41,602,917 (GRCm39) E140A probably benign Het
Eif1ad17 C A 12: 87,978,946 (GRCm39) P110Q possibly damaging Het
Gdpd4 A T 7: 97,623,584 (GRCm39) probably benign Het
Gng7 C A 10: 80,787,518 (GRCm39) L48F probably damaging Het
Htt G T 5: 35,057,246 (GRCm39) C2725F probably damaging Het
Inpp4b A G 8: 82,583,373 (GRCm39) K159R probably damaging Het
Insr G T 8: 3,223,570 (GRCm39) N854K probably benign Het
Ktn1 A T 14: 47,971,610 (GRCm39) probably null Het
Lcat A G 8: 106,668,572 (GRCm39) probably null Het
Mb21d2 T C 16: 28,646,801 (GRCm39) E391G probably benign Het
Mms19 A G 19: 41,942,915 (GRCm39) S354P possibly damaging Het
Mx2 G A 16: 97,357,320 (GRCm39) probably null Het
Mycl G A 4: 122,893,776 (GRCm39) R192Q probably damaging Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Nipbl G T 15: 8,380,594 (GRCm39) P733T possibly damaging Het
Nploc4 A G 11: 120,280,198 (GRCm39) I450T probably benign Het
Omd A T 13: 49,745,757 (GRCm39) E389V probably benign Het
Or8g30 C T 9: 39,230,217 (GRCm39) S231N probably benign Het
Oxgr1 A G 14: 120,259,580 (GRCm39) L209P probably damaging Het
Pak1 A C 7: 97,543,209 (GRCm39) T291P probably damaging Het
Pcmtd1 T A 1: 7,240,045 (GRCm39) I338K probably damaging Het
Phrf1 A G 7: 140,840,195 (GRCm39) D364G probably damaging Het
Pomk G A 8: 26,473,135 (GRCm39) P273S probably damaging Het
Psg22 A T 7: 18,453,418 (GRCm39) I38F probably damaging Het
Rbks G T 5: 31,830,757 (GRCm39) T42N probably damaging Het
Rrbp1 A G 2: 143,832,107 (GRCm39) V20A probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc11a2 T A 15: 100,310,081 (GRCm39) M9L possibly damaging Het
Slc16a11 T C 11: 70,106,242 (GRCm39) L112S probably damaging Het
Slc25a28 A T 19: 43,655,586 (GRCm39) probably benign Het
Slc30a3 G A 5: 31,245,676 (GRCm39) R237* probably null Het
Slco1a8 A T 6: 141,954,444 (GRCm39) Y10N probably damaging Het
Smc1b G A 15: 84,949,201 (GRCm39) R1237* probably null Het
Smtn T C 11: 3,476,353 (GRCm39) E585G possibly damaging Het
Spatc1 A T 15: 76,176,572 (GRCm39) D441V probably damaging Het
Tenm4 A G 7: 96,545,426 (GRCm39) N2481D probably damaging Het
Tnks2 A T 19: 36,823,143 (GRCm39) I137F possibly damaging Het
Trip11 T C 12: 101,849,649 (GRCm39) K1472E probably damaging Het
Ttn C A 2: 76,708,660 (GRCm39) E1846* probably null Het
Vwa8 A G 14: 79,221,640 (GRCm39) D532G probably damaging Het
Zfp268 A T 4: 145,349,067 (GRCm39) H168L probably damaging Het
Zfp977 G A 7: 42,232,419 (GRCm39) T14I 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
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
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
Posted On 2015-04-16