Incidental Mutation 'IGL02678:Gcn1l1'
ID303234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcn1l1
Ensembl Gene ENSMUSG00000041638
Gene NameGCN1 general control of amino-acid synthesis 1-like 1 (yeast)
SynonymsGCN1L, G431004K08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.944) question?
Stock #IGL02678
Quality Score
Status
Chromosome5
Chromosomal Location115565254-115622654 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115613755 bp
ZygosityHeterozygous
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]
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
5430419D17Rik A G 7: 131,228,917 Y360C probably damaging Het
Aasdh A G 5: 76,888,020 probably benign Het
Adgrb1 A G 15: 74,538,328 E272G probably damaging Het
Alcam G A 16: 52,274,038 P416S probably damaging Het
B3galt1 A G 2: 68,118,910 H323R probably benign Het
Bahcc1 G A 11: 120,272,871 S665N probably damaging Het
Birc6 T C 17: 74,649,903 S3631P probably damaging Het
Capn3 A C 2: 120,502,998 N621T probably damaging Het
Ccdc162 G A 10: 41,561,155 H480Y probably damaging Het
Ccr2 T A 9: 124,106,746 D354E probably benign Het
Cdc42bpb T G 12: 111,326,096 D335A probably damaging Het
Chrd G T 16: 20,734,020 R89L probably damaging Het
Cops2 T C 2: 125,844,911 R91G probably benign Het
Ddi1 T C 9: 6,266,106 T88A probably benign Het
Dnaic1 A C 4: 41,602,917 E140A probably benign Het
Gdpd4 A T 7: 97,974,377 probably benign Het
Gif T C 19: 11,748,475 M43T probably damaging Het
Gm13212 A T 4: 145,622,497 H168L probably damaging Het
Gm2075 C A 12: 88,012,176 P110Q possibly damaging Het
Gm6614 A T 6: 142,008,718 Y10N probably damaging Het
Gng7 C A 10: 80,951,684 L48F probably damaging Het
Htt G T 5: 34,899,902 C2725F probably damaging Het
Inpp4b A G 8: 81,856,744 K159R probably damaging Het
Insr G T 8: 3,173,570 N854K probably benign Het
Ktn1 A T 14: 47,734,153 probably null Het
Lcat A G 8: 105,941,940 probably null Het
Mb21d2 T C 16: 28,828,049 E391G probably benign Het
Mms19 A G 19: 41,954,476 S354P possibly damaging Het
Mx2 G A 16: 97,556,120 probably null Het
Mycl G A 4: 122,999,983 R192Q probably damaging Het
Mzf1 A G 7: 13,052,909 V78A possibly damaging Het
Nipbl G T 15: 8,351,110 P733T possibly damaging Het
Nploc4 A G 11: 120,389,372 I450T probably benign Het
Olfr948 C T 9: 39,318,921 S231N probably benign Het
Omd A T 13: 49,592,281 E389V probably benign Het
Oxgr1 A G 14: 120,022,168 L209P probably damaging Het
Pak1 A C 7: 97,894,002 T291P probably damaging Het
Pcmtd1 T A 1: 7,169,821 I338K probably damaging Het
Phrf1 A G 7: 141,260,282 D364G probably damaging Het
Pomk G A 8: 25,983,107 P273S probably damaging Het
Psg22 A T 7: 18,719,493 I38F probably damaging Het
Rbks G T 5: 31,673,413 T42N probably damaging Het
Rrbp1 A G 2: 143,990,187 V20A probably damaging Het
Six4 T C 12: 73,112,634 Y176C probably damaging Het
Slc11a2 T A 15: 100,412,200 M9L possibly damaging Het
Slc16a11 T C 11: 70,215,416 L112S probably damaging Het
Slc25a28 A T 19: 43,667,147 probably benign Het
Slc30a3 G A 5: 31,088,332 R237* probably null Het
Smc1b G A 15: 85,065,000 R1237* probably null Het
Smtn T C 11: 3,526,353 E585G possibly damaging Het
Spatc1 A T 15: 76,292,372 D441V probably damaging Het
Tenm4 A G 7: 96,896,219 N2481D probably damaging Het
Tnks2 A T 19: 36,845,743 I137F possibly damaging Het
Trip11 T C 12: 101,883,390 K1472E probably damaging Het
Ttn C A 2: 76,878,316 E1846* probably null Het
Vwa8 A G 14: 78,984,200 D532G probably damaging Het
Zfp977 G A 7: 42,582,995 T14I probably damaging Het
Other mutations in Gcn1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Gcn1l1 APN 5 115588143 splice site probably benign
IGL00974:Gcn1l1 APN 5 115613793 missense possibly damaging 0.88
IGL01566:Gcn1l1 APN 5 115611058 missense probably damaging 1.00
IGL01843:Gcn1l1 APN 5 115619700 missense probably damaging 1.00
IGL01885:Gcn1l1 APN 5 115576115 splice site probably null
IGL02081:Gcn1l1 APN 5 115585871 missense probably damaging 1.00
IGL02118:Gcn1l1 APN 5 115610879 missense probably damaging 1.00
IGL02150:Gcn1l1 APN 5 115609868 missense probably damaging 1.00
IGL02190:Gcn1l1 APN 5 115614124 missense probably damaging 1.00
IGL02219:Gcn1l1 APN 5 115613767 missense possibly damaging 0.68
IGL02507:Gcn1l1 APN 5 115585881 missense probably benign 0.11
IGL02644:Gcn1l1 APN 5 115575191 missense probably benign
IGL02748:Gcn1l1 APN 5 115610800 splice site probably null
IGL02755:Gcn1l1 APN 5 115604006 splice site probably null
IGL02896:Gcn1l1 APN 5 115619648 splice site probably benign
IGL03147:Gcn1l1 UTSW 5 115610858 missense possibly damaging 0.78
R0362:Gcn1l1 UTSW 5 115576108 splice site probably benign
R0540:Gcn1l1 UTSW 5 115588956 missense probably benign 0.00
R0569:Gcn1l1 UTSW 5 115595059 missense probably benign 0.00
R0570:Gcn1l1 UTSW 5 115592421 missense probably damaging 1.00
R0584:Gcn1l1 UTSW 5 115595015 missense probably damaging 1.00
R0630:Gcn1l1 UTSW 5 115581089 missense probably benign 0.06
R0656:Gcn1l1 UTSW 5 115589303 missense probably benign 0.27
R0801:Gcn1l1 UTSW 5 115591006 missense probably benign 0.12
R0890:Gcn1l1 UTSW 5 115579793 missense possibly damaging 0.77
R1400:Gcn1l1 UTSW 5 115614161 missense probably damaging 1.00
R1485:Gcn1l1 UTSW 5 115574617 missense probably benign
R1574:Gcn1l1 UTSW 5 115615552 missense probably benign
R1574:Gcn1l1 UTSW 5 115615552 missense probably benign
R1673:Gcn1l1 UTSW 5 115582297 missense probably benign
R1894:Gcn1l1 UTSW 5 115589115 missense probably damaging 1.00
R2114:Gcn1l1 UTSW 5 115598825 missense probably benign 0.35
R2116:Gcn1l1 UTSW 5 115598825 missense probably benign 0.35
R2117:Gcn1l1 UTSW 5 115598825 missense probably benign 0.35
R2152:Gcn1l1 UTSW 5 115609829 missense probably benign 0.07
R2162:Gcn1l1 UTSW 5 115592132 missense probably benign 0.18
R2216:Gcn1l1 UTSW 5 115593661 missense probably benign
R2218:Gcn1l1 UTSW 5 115619661 missense probably benign 0.04
R2278:Gcn1l1 UTSW 5 115611175 missense probably damaging 1.00
R2280:Gcn1l1 UTSW 5 115612730 missense probably damaging 1.00
R3719:Gcn1l1 UTSW 5 115579817 missense probably benign 0.03
R3729:Gcn1l1 UTSW 5 115583394 splice site probably benign
R3833:Gcn1l1 UTSW 5 115592132 missense probably benign 0.18
R3932:Gcn1l1 UTSW 5 115587834 missense probably benign 0.11
R4067:Gcn1l1 UTSW 5 115599088 missense probably damaging 1.00
R4152:Gcn1l1 UTSW 5 115613354 critical splice acceptor site probably null
R4179:Gcn1l1 UTSW 5 115588050 missense probably benign 0.00
R4292:Gcn1l1 UTSW 5 115576148 missense possibly damaging 0.49
R4350:Gcn1l1 UTSW 5 115603330 missense probably damaging 1.00
R4493:Gcn1l1 UTSW 5 115594144 missense probably benign
R4672:Gcn1l1 UTSW 5 115606520 missense probably damaging 1.00
R4749:Gcn1l1 UTSW 5 115614402 missense probably benign
R4753:Gcn1l1 UTSW 5 115616478 missense probably benign
R4826:Gcn1l1 UTSW 5 115593693 missense probably benign
R4873:Gcn1l1 UTSW 5 115576170 missense possibly damaging 0.92
R4875:Gcn1l1 UTSW 5 115576170 missense possibly damaging 0.92
R4932:Gcn1l1 UTSW 5 115592144 missense probably benign 0.00
R4992:Gcn1l1 UTSW 5 115599166 missense probably benign 0.29
R5049:Gcn1l1 UTSW 5 115606671 missense probably damaging 1.00
R5211:Gcn1l1 UTSW 5 115619312 missense probably benign 0.04
R5226:Gcn1l1 UTSW 5 115588067 missense probably benign 0.01
R5338:Gcn1l1 UTSW 5 115583403 missense probably benign 0.00
R5914:Gcn1l1 UTSW 5 115610135 synonymous silent
R5932:Gcn1l1 UTSW 5 115592376 missense possibly damaging 0.77
R6422:Gcn1l1 UTSW 5 115609544 missense probably damaging 1.00
R6435:Gcn1l1 UTSW 5 115611022 critical splice acceptor site probably null
R6607:Gcn1l1 UTSW 5 115609478 missense probably damaging 0.98
R6724:Gcn1l1 UTSW 5 115609158 intron probably null
R6861:Gcn1l1 UTSW 5 115611049 missense probably benign
R6875:Gcn1l1 UTSW 5 115588110 missense probably damaging 1.00
R6910:Gcn1l1 UTSW 5 115606538 missense probably benign 0.42
R6975:Gcn1l1 UTSW 5 115613459 missense probably damaging 1.00
Posted On2015-04-16