Incidental Mutation 'IGL02507:Gcn1l1'
ID296404
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 #IGL02507
Quality Score
Status
Chromosome5
Chromosomal Location115565254-115622654 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115585881 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 532 (L532P)
Ref Sequence ENSEMBL: ENSMUSP00000069432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454]
Predicted Effect probably benign
Transcript: ENSMUST00000064454
AA Change: L532P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: L532P

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: ENSMUST00000125299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184777
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T A 11: 103,199,449 Q287L probably damaging Het
Abca13 A G 11: 9,399,388 Y3654C probably damaging Het
Aldh1l2 A C 10: 83,492,584 Y756* probably null Het
Arhgef12 T C 9: 42,992,563 E733G probably damaging Het
Art5 A T 7: 102,099,492 M1K probably null Het
Atp1a2 A T 1: 172,285,771 D448E probably damaging Het
Atp6v1b1 C T 6: 83,756,855 T356I possibly damaging Het
Celsr1 A G 15: 85,900,688 probably benign Het
Cep89 A G 7: 35,435,565 Y686C probably damaging Het
Cgrrf1 T A 14: 46,853,444 Y212* probably null Het
Chrnb1 T C 11: 69,785,090 Y442C probably damaging Het
Clcn1 T C 6: 42,307,073 probably benign Het
Clcn7 G A 17: 25,144,469 V40M probably damaging Het
Cntn1 A G 15: 92,250,979 Y369C possibly damaging Het
Csmd1 T C 8: 17,534,976 probably benign Het
Dpy19l2 A T 9: 24,631,267 C446S probably benign Het
Edem3 G A 1: 151,811,656 E782K probably benign Het
Ephb3 T A 16: 21,220,639 probably benign Het
Fndc4 T C 5: 31,294,746 D109G probably damaging Het
Fras1 T C 5: 96,657,408 V1303A possibly damaging Het
Gm5150 A G 3: 15,963,321 L262P probably damaging Het
Hbb-bs T C 7: 103,827,884 probably benign Het
Krt74 A G 15: 101,760,624 noncoding transcript Het
Myo1a T C 10: 127,712,609 V375A probably damaging Het
Nup160 A T 2: 90,729,735 Q1268L probably benign Het
Olfr1155 G A 2: 87,942,918 R237* probably null Het
Olfr1290 G A 2: 111,489,423 T245M possibly damaging Het
Olfr1412 T C 1: 92,588,926 S199P possibly damaging Het
Olfr610 G T 7: 103,506,718 S76* probably null Het
Pan3 T C 5: 147,526,596 S497P probably damaging Het
Pex5 T C 6: 124,413,305 T138A probably benign Het
Pik3ap1 A G 19: 41,282,012 probably benign Het
Ptchd4 A T 17: 42,316,873 H75L possibly damaging Het
Rag2 A T 2: 101,630,710 H455L probably damaging Het
Rergl T A 6: 139,493,353 E159V probably damaging Het
Rrn3 A G 16: 13,788,857 N109S probably benign Het
Scn1a A T 2: 66,277,813 V1523D probably damaging Het
Sec23a A G 12: 59,007,098 V38A probably benign Het
Slc15a2 G A 16: 36,781,659 T92M possibly damaging Het
Slc2a2 A G 3: 28,727,111 T433A probably benign Het
Sptan1 A G 2: 30,016,055 D1671G probably damaging Het
Stab1 A G 14: 31,139,210 probably benign Het
Stau2 A T 1: 16,486,069 I22N possibly damaging Het
Strn3 A T 12: 51,661,627 Y123* probably null Het
Tmem205 A G 9: 21,926,311 V13A possibly damaging Het
Trub1 G A 19: 57,483,577 probably benign Het
Ttn A G 2: 76,738,355 V27398A possibly damaging Het
Vill A G 9: 119,070,777 E343G possibly damaging Het
Zgpat T C 2: 181,366,236 F189L 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
IGL02644:Gcn1l1 APN 5 115575191 missense probably benign
IGL02678:Gcn1l1 APN 5 115613755 missense probably damaging 0.99
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