Incidental Mutation 'IGL03202:Lin54'
ID 413009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin54
Ensembl Gene ENSMUSG00000035310
Gene Name lin-54 DREAM MuvB core complex component
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL03202
Quality Score
Status
Chromosome 5
Chromosomal Location 100589900-100648493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100623673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 55 (S55P)
Ref Sequence ENSEMBL: ENSMUSP00000120010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046154] [ENSMUST00000123572] [ENSMUST00000137750] [ENSMUST00000139234] [ENSMUST00000144030] [ENSMUST00000154921] [ENSMUST00000149714] [ENSMUST00000152387]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046154
AA Change: S276P

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: S276P

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: S276P

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: S276P

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 silent
Transcript: ENSMUST00000134439
Predicted Effect probably benign
Transcript: ENSMUST00000137750
AA Change: S55P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: S55P

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 silent
Transcript: ENSMUST00000139234
SMART Domains Protein: ENSMUSP00000119322
Gene: ENSMUSG00000035310

DomainStartEndE-ValueType
low complexity region 218 229 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144030
AA Change: S55P

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000154921
AA Change: S55P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: S55P

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: ENSMUST00000149714
AA Change: S55P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: S55P

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: ENSMUST00000152387
SMART Domains Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A probably benign 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
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
R4529:Lin54 UTSW 5 100,594,419 (GRCm39) missense possibly damaging 0.91
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
Posted On 2016-08-02