Incidental Mutation 'R4529:Lin54'
ID 333026
Institutional Source Beutler Lab
Gene Symbol Lin54
Ensembl Gene ENSMUSG00000035310
Gene Name lin-54 DREAM MuvB core complex component
Synonyms
MMRRC Submission 041592-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R4529 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100589900-100648493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100594419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 582 (T582I)
Ref Sequence ENSEMBL: ENSMUSP00000121902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046154] [ENSMUST00000123572] [ENSMUST00000137750] [ENSMUST00000139234] [ENSMUST00000144030] [ENSMUST00000149714] [ENSMUST00000152387] [ENSMUST00000154921]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046154
AA Change: T671I

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: T671I

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 benign
Transcript: ENSMUST00000123572
AA Change: T671I

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: T671I

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 possibly damaging
Transcript: ENSMUST00000137750
AA Change: T450I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: T450I

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 possibly damaging
Transcript: ENSMUST00000149714
AA Change: T450I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: T450I

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 possibly damaging
Transcript: ENSMUST00000152387
AA Change: T582I

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: T582I

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 possibly damaging
Transcript: ENSMUST00000154921
AA Change: T450I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: T450I

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
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,727,519 (GRCm39) Y483C possibly damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aldh1a3 T C 7: 66,051,742 (GRCm39) N404D probably benign Het
Ankrd2 A T 19: 42,032,240 (GRCm39) I231F probably benign Het
Apba1 A G 19: 23,913,899 (GRCm39) N641D probably damaging Het
C1qbp T C 11: 70,869,550 (GRCm39) T178A probably benign Het
Chtf18 T C 17: 25,939,592 (GRCm39) Y64C probably damaging Het
Cyp1a1 A G 9: 57,608,962 (GRCm39) H281R probably benign Het
Ehmt2 A G 17: 35,132,707 (GRCm39) I1235V probably damaging Het
Fcamr A G 1: 130,732,313 (GRCm39) H44R probably damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm5460 A C 14: 33,767,769 (GRCm39) D459A probably damaging Het
H2-Q6 C T 17: 35,644,820 (GRCm39) T203I probably null Het
Inmt T C 6: 55,148,012 (GRCm39) M206V probably benign Het
Khdc3 T C 9: 73,011,301 (GRCm39) S360P possibly damaging Het
Ltbp1 T G 17: 75,458,355 (GRCm39) V312G probably benign Het
Nlrp9a T C 7: 26,270,832 (GRCm39) L899P probably damaging Het
Or6c1b T C 10: 129,273,287 (GRCm39) V202A probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pappa A G 4: 65,149,419 (GRCm39) I920V probably benign Het
Parp1 T A 1: 180,418,877 (GRCm39) V679E probably damaging Het
Pla2g4f C T 2: 120,131,100 (GRCm39) R785Q probably damaging Het
Plbd1 T A 6: 136,628,823 (GRCm39) I82F probably benign Het
Plekhm3 A G 1: 64,976,984 (GRCm39) V162A probably benign Het
Plin4 A G 17: 56,411,274 (GRCm39) L919P probably damaging Het
Plxna4 C T 6: 32,473,831 (GRCm39) probably null Het
Pou3f3 C A 1: 42,737,714 (GRCm39) T470K probably benign Het
Prss38 T C 11: 59,264,325 (GRCm39) Y214C probably damaging Het
Retreg1 T A 15: 25,968,600 (GRCm39) Y109N probably damaging Het
Slco1c1 A G 6: 141,500,907 (GRCm39) Y413C probably damaging Het
Stk32a T C 18: 43,376,044 (GRCm39) C38R possibly damaging Het
Themis T C 10: 28,658,331 (GRCm39) F453L possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tubgcp3 G T 8: 12,713,932 (GRCm39) L62I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Xpo7 G A 14: 70,906,188 (GRCm39) T986M probably damaging Het
Zfp51 C T 17: 21,684,998 (GRCm39) L538F probably damaging Het
Zfy1 A G Y: 726,511 (GRCm39) L418S possibly damaging Het
Other mutations in Lin54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Lin54 APN 5 100,633,466 (GRCm39) missense probably benign 0.03
IGL01356:Lin54 APN 5 100,601,876 (GRCm39) missense probably damaging 0.98
IGL02931:Lin54 APN 5 100,628,180 (GRCm39) missense possibly damaging 0.93
IGL03089:Lin54 APN 5 100,598,852 (GRCm39) missense probably damaging 1.00
IGL03095:Lin54 APN 5 100,602,337 (GRCm39) missense probably damaging 0.99
IGL03202:Lin54 APN 5 100,623,673 (GRCm39) missense possibly damaging 0.92
R0505:Lin54 UTSW 5 100,600,152 (GRCm39) missense probably damaging 0.98
R1138:Lin54 UTSW 5 100,591,993 (GRCm39) missense probably damaging 0.98
R1540:Lin54 UTSW 5 100,628,109 (GRCm39) missense probably damaging 0.99
R1719:Lin54 UTSW 5 100,633,108 (GRCm39) missense possibly damaging 0.91
R1991:Lin54 UTSW 5 100,633,660 (GRCm39) critical splice donor site probably null
R2698:Lin54 UTSW 5 100,628,109 (GRCm39) missense probably damaging 0.99
R3738:Lin54 UTSW 5 100,607,665 (GRCm39) splice site probably benign
R4238:Lin54 UTSW 5 100,623,603 (GRCm39) missense possibly damaging 0.45
R4424:Lin54 UTSW 5 100,594,419 (GRCm39) missense probably damaging 0.98
R4530:Lin54 UTSW 5 100,594,419 (GRCm39) missense possibly damaging 0.91
R4531:Lin54 UTSW 5 100,594,419 (GRCm39) missense possibly damaging 0.91
R4532:Lin54 UTSW 5 100,594,419 (GRCm39) missense possibly damaging 0.91
R4533:Lin54 UTSW 5 100,633,262 (GRCm39) missense possibly damaging 0.79
R4665:Lin54 UTSW 5 100,600,943 (GRCm39) missense possibly damaging 0.92
R4784:Lin54 UTSW 5 100,607,597 (GRCm39) missense probably damaging 0.99
R4785:Lin54 UTSW 5 100,607,597 (GRCm39) missense probably damaging 0.99
R5252:Lin54 UTSW 5 100,628,063 (GRCm39) missense probably benign
R5265:Lin54 UTSW 5 100,633,378 (GRCm39) missense probably damaging 1.00
R6545:Lin54 UTSW 5 100,632,996 (GRCm39) splice site probably null
R7150:Lin54 UTSW 5 100,633,159 (GRCm39) missense possibly damaging 0.74
R7544:Lin54 UTSW 5 100,633,129 (GRCm39) missense possibly damaging 0.84
R8165:Lin54 UTSW 5 100,602,358 (GRCm39) missense probably benign 0.11
R8767:Lin54 UTSW 5 100,600,884 (GRCm39) missense probably benign 0.27
R8940:Lin54 UTSW 5 100,594,530 (GRCm39) missense probably damaging 1.00
R9599:Lin54 UTSW 5 100,598,546 (GRCm39) missense probably damaging 1.00
X0025:Lin54 UTSW 5 100,602,302 (GRCm39) missense probably benign 0.11
X0026:Lin54 UTSW 5 100,598,858 (GRCm39) missense probably damaging 0.97
Z1189:Lin54 UTSW 5 100,607,640 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTTGTGGCTCAGTCTGGC -3'
(R):5'- TCTGTTGAGGAATCTACTTACTGTG -3'

Sequencing Primer
(F):5'- CTGGGAATTAAACTCAGGACCTTCG -3'
(R):5'- TCTGCTTTTGATTTGGAAACTTTTC -3'
Posted On 2015-08-18