Incidental Mutation 'R5265:Lin54'
ID 401642
Institutional Source Beutler Lab
Gene Symbol Lin54
Ensembl Gene ENSMUSG00000035310
Gene Name lin-54 DREAM MuvB core complex component
Synonyms
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100589900-100648493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100633378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 102 (L102P)
Ref Sequence ENSEMBL: ENSMUSP00000119322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046154] [ENSMUST00000123572] [ENSMUST00000137750] [ENSMUST00000139234] [ENSMUST00000144030] [ENSMUST00000152387] [ENSMUST00000154921] [ENSMUST00000149714]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046154
AA Change: L102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: L102P

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: L102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: L102P

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: ENSMUST00000134439
Predicted Effect probably benign
Transcript: ENSMUST00000137750
SMART Domains Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310

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: ENSMUST00000139234
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119322
Gene: ENSMUSG00000035310
AA Change: L102P

DomainStartEndE-ValueType
low complexity region 218 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144030
Predicted Effect probably damaging
Transcript: ENSMUST00000152387
AA Change: L102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: L102P

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 noncoding transcript
Transcript: ENSMUST00000144716
Predicted Effect probably benign
Transcript: ENSMUST00000154921
SMART Domains Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310

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
SMART Domains Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310

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 0.1596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L 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
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
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'- GCTGTAACTTTCTGAGCCTGGG -3'
(R):5'- TCCCCAATTCCCATGGAGAC -3'

Sequencing Primer
(F):5'- AACTTTCTGAGCCTGGGGTAGTTG -3'
(R):5'- CAGAGCTGGAAGAAATTGTCAAC -3'
Posted On 2016-07-06