Incidental Mutation 'IGL03089:Lin54'
ID418271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin54
Ensembl Gene ENSMUSG00000035310
Gene Namelin-54 homolog (C. elegans)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL03089
Quality Score
Status
Chromosome5
Chromosomal Location100441918-100500639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100450993 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 319 (F319L)
Ref Sequence ENSEMBL: ENSMUSP00000121137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046154] [ENSMUST00000123572] [ENSMUST00000137750] [ENSMUST00000139234] [ENSMUST00000144030] [ENSMUST00000149714] [ENSMUST00000152387] [ENSMUST00000154921]
Predicted Effect probably damaging
Transcript: ENSMUST00000046154
AA Change: F540L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: F540L

DomainStartEndE-ValueType
low complexity region 364 382 N/A INTRINSIC
low complexity region 404 419 N/A INTRINSIC
CXC 520 560 3.06e-15 SMART
CXC 594 635 1.84e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123572
AA Change: F540L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: F540L

DomainStartEndE-ValueType
low complexity region 364 382 N/A INTRINSIC
low complexity region 404 419 N/A INTRINSIC
CXC 520 560 3.06e-15 SMART
CXC 594 635 1.84e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137750
AA Change: F319L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: F319L

DomainStartEndE-ValueType
low complexity region 143 161 N/A INTRINSIC
low complexity region 183 198 N/A INTRINSIC
CXC 299 339 3.06e-15 SMART
CXC 373 414 1.84e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139234
SMART Domains Protein: ENSMUSP00000119322
Gene: ENSMUSG00000035310

DomainStartEndE-ValueType
low complexity region 218 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144030
Predicted Effect probably damaging
Transcript: ENSMUST00000149714
AA Change: F319L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: F319L

DomainStartEndE-ValueType
low complexity region 143 161 N/A INTRINSIC
low complexity region 183 198 N/A INTRINSIC
CXC 299 339 3.06e-15 SMART
CXC 373 414 1.84e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152387
AA Change: F451L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: F451L

DomainStartEndE-ValueType
low complexity region 218 231 N/A INTRINSIC
low complexity region 275 293 N/A INTRINSIC
low complexity region 315 330 N/A INTRINSIC
CXC 431 471 3.06e-15 SMART
CXC 505 546 1.84e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154921
AA Change: F319L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: F319L

DomainStartEndE-ValueType
low complexity region 143 161 N/A INTRINSIC
low complexity region 183 198 N/A INTRINSIC
CXC 299 339 3.06e-15 SMART
CXC 373 414 1.84e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,677,246 S947P probably damaging Het
Agl T A 3: 116,781,023 H709L probably damaging Het
Alpi T A 1: 87,100,108 D250V probably benign Het
Anapc4 A G 5: 52,866,398 S735G probably benign Het
Ank1 A T 8: 23,104,832 I611L probably benign Het
Canx A G 11: 50,304,482 V253A possibly damaging Het
Cbfa2t3 A T 8: 122,635,134 I383N probably damaging Het
Cdc23 T C 18: 34,634,460 Y519C probably damaging Het
Celsr3 T A 9: 108,826,607 N96K probably benign Het
Clptm1 A G 7: 19,637,147 Y355H probably damaging Het
Col6a5 C T 9: 105,933,839 S827N unknown Het
Cyp21a1 G T 17: 34,803,446 probably null Het
Cyp24a1 T G 2: 170,485,966 H452P probably damaging Het
Cyp2c39 T A 19: 39,563,851 H329Q probably benign Het
D630003M21Rik C T 2: 158,216,744 R412Q probably benign Het
Dennd1b G A 1: 139,102,029 R308Q possibly damaging Het
Deup1 T C 9: 15,607,800 S137G possibly damaging Het
Dmbt1 T A 7: 131,111,049 I1583N probably damaging Het
Dvl1 G A 4: 155,855,152 V320M probably damaging Het
Elmod3 A G 6: 72,569,316 S254P probably damaging Het
Emsy G A 7: 98,637,266 Q226* probably null Het
Ephb6 C A 6: 41,614,174 D88E probably damaging Het
Exoc1 A G 5: 76,542,158 M182V possibly damaging Het
Fbxw4 T G 19: 45,591,721 probably benign Het
Fgr A G 4: 132,986,266 D35G probably damaging Het
Gm13078 A G 4: 143,726,133 T45A probably benign Het
Gm20547 A T 17: 34,861,032 D366E probably damaging Het
Gucy1a1 T C 3: 82,097,681 N599S probably damaging Het
Ighg2b G A 12: 113,306,678 P240L probably damaging Het
Jak3 A G 8: 71,686,083 D975G probably benign Het
Klhl26 A T 8: 70,455,633 N24K probably benign Het
Letm1 T A 5: 33,760,858 E314D probably damaging Het
Lrp5 A T 19: 3,620,314 probably null Het
Lvrn T C 18: 46,880,709 F486S probably damaging Het
Nov C T 15: 54,749,284 R230C possibly damaging Het
Olfr1218 T C 2: 89,055,013 R138G probably benign Het
Olfr378 T C 11: 73,425,183 T267A probably benign Het
Olfr631 A C 7: 103,929,122 I100L probably benign Het
Olfr93 A G 17: 37,151,643 C110R probably damaging Het
Olfr969 A T 9: 39,795,681 Y102F probably benign Het
Sap30bp T A 11: 115,957,388 M112K possibly damaging Het
Sbno1 A G 5: 124,387,311 probably benign Het
Slc30a5 T C 13: 100,813,830 I307V probably benign Het
Trim37 T A 11: 87,190,137 D21E probably damaging Het
Usp34 T C 11: 23,446,958 F614S possibly damaging Het
Usp39 A C 6: 72,328,639 F387C probably damaging Het
Vipas39 C T 12: 87,253,254 C149Y probably damaging Het
Vmn2r107 C A 17: 20,375,712 H842Q probably benign Het
Vps18 T A 2: 119,293,177 V195E probably benign Het
Vsx1 A G 2: 150,685,590 probably benign Het
Other mutations in Lin54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Lin54 APN 5 100485607 missense probably benign 0.03
IGL01356:Lin54 APN 5 100454017 missense probably damaging 0.98
IGL02931:Lin54 APN 5 100480321 missense possibly damaging 0.93
IGL03095:Lin54 APN 5 100454478 missense probably damaging 0.99
IGL03202:Lin54 APN 5 100475814 missense possibly damaging 0.92
R0505:Lin54 UTSW 5 100452293 missense probably damaging 0.98
R1138:Lin54 UTSW 5 100444134 missense probably damaging 0.98
R1540:Lin54 UTSW 5 100480250 missense probably damaging 0.99
R1719:Lin54 UTSW 5 100485249 missense possibly damaging 0.91
R1991:Lin54 UTSW 5 100485801 critical splice donor site probably null
R2698:Lin54 UTSW 5 100480250 missense probably damaging 0.99
R3738:Lin54 UTSW 5 100459806 splice site probably benign
R4238:Lin54 UTSW 5 100475744 missense possibly damaging 0.45
R4424:Lin54 UTSW 5 100446560 missense probably damaging 0.98
R4529:Lin54 UTSW 5 100446560 missense possibly damaging 0.91
R4530:Lin54 UTSW 5 100446560 missense possibly damaging 0.91
R4531:Lin54 UTSW 5 100446560 missense possibly damaging 0.91
R4532:Lin54 UTSW 5 100446560 missense possibly damaging 0.91
R4533:Lin54 UTSW 5 100485403 missense possibly damaging 0.79
R4665:Lin54 UTSW 5 100453084 missense possibly damaging 0.92
R4784:Lin54 UTSW 5 100459738 missense probably damaging 0.99
R4785:Lin54 UTSW 5 100459738 missense probably damaging 0.99
R5252:Lin54 UTSW 5 100480204 missense probably benign
R5265:Lin54 UTSW 5 100485519 missense probably damaging 1.00
R6545:Lin54 UTSW 5 100485137 splice site probably null
R7150:Lin54 UTSW 5 100485300 missense possibly damaging 0.74
R7544:Lin54 UTSW 5 100485270 missense possibly damaging 0.84
R8165:Lin54 UTSW 5 100454499 missense probably benign 0.11
R8767:Lin54 UTSW 5 100453025 missense probably benign 0.27
R8940:Lin54 UTSW 5 100446671 missense probably damaging 1.00
X0025:Lin54 UTSW 5 100454443 missense probably benign 0.11
X0026:Lin54 UTSW 5 100450999 missense probably damaging 0.97
Z1189:Lin54 UTSW 5 100459781 missense probably benign
Posted On2016-08-02