Incidental Mutation 'R9264:Lin9'
ID 702403
Institutional Source Beutler Lab
Gene Symbol Lin9
Ensembl Gene ENSMUSG00000058729
Gene Name lin-9 DREAM MuvB core complex component
Synonyms 2700022J23Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9264 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 180468715-180518252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180494912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 251 (D251E)
Ref Sequence ENSEMBL: ENSMUSP00000141331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000192561] [ENSMUST00000192725] [ENSMUST00000193892]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000192561
AA Change: D251E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: D251E

DomainStartEndE-ValueType
DIRP 143 248 2.2e-71 SMART
coiled coil region 370 428 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192725
AA Change: D211E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: D211E

DomainStartEndE-ValueType
DIRP 103 208 2.2e-71 SMART
coiled coil region 330 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193892
AA Change: D235E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729
AA Change: D235E

DomainStartEndE-ValueType
DIRP 127 232 2.2e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194638
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show increased body weight. Mice homozygous for a gene-trap allele die shortly after implantation with defects in early embryogenesis. Homozygous deletion in adult mice causes premature death, intestinal epithelium atrophy, and abnormal mitosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 120,001,056 (GRCm39) I1531L probably benign Het
Adam28 T C 14: 68,844,914 (GRCm39) Y791C probably benign Het
Ankrd40 T A 11: 94,229,187 (GRCm39) I262N probably damaging Het
Catsperg2 A T 7: 29,397,613 (GRCm39) N1033K possibly damaging Het
Cdh10 A T 15: 18,964,081 (GRCm39) D81V probably damaging Het
Cep290 T C 10: 100,333,878 (GRCm39) V310A possibly damaging Het
Cep78 T C 19: 15,951,830 (GRCm39) Y325C probably damaging Het
Clstn3 T A 6: 124,436,727 (GRCm39) D197V probably damaging Het
Col11a1 T C 3: 114,005,809 (GRCm39) I1647T unknown Het
Col5a1 G A 2: 27,854,123 (GRCm39) R569K unknown Het
Cspg4b G A 13: 113,456,014 (GRCm39) V687M Het
Cyp4a10 T C 4: 115,381,475 (GRCm39) S180P probably benign Het
D630045J12Rik T C 6: 38,135,173 (GRCm39) I1336V probably benign Het
Dchs2 G A 3: 83,177,784 (GRCm39) V946M probably damaging Het
Dnah10 A G 5: 124,813,900 (GRCm39) R347G probably damaging Het
Dnah11 T A 12: 117,991,262 (GRCm39) D2368V probably damaging Het
Ganab T C 19: 8,890,228 (GRCm39) I719T possibly damaging Het
Gm10944 C A 10: 10,557,583 (GRCm39) A11D unknown Het
Gmcl1 T C 6: 86,691,195 (GRCm39) M267V probably benign Het
Inhbe T A 10: 127,186,427 (GRCm39) D251V probably damaging Het
Kcnj1 G A 9: 32,307,654 (GRCm39) R26Q probably benign Het
Lama5 A G 2: 179,838,271 (GRCm39) probably benign Het
Magel2 T A 7: 62,028,344 (GRCm39) I416N possibly damaging Het
Mdga2 T C 12: 66,560,057 (GRCm39) N772S probably damaging Het
Ms4a20 T A 19: 11,093,830 (GRCm39) M1L probably benign Het
Msh3 G T 13: 92,485,812 (GRCm39) Q171K probably benign Het
Mslnl T G 17: 25,961,506 (GRCm39) probably benign Het
Mtpn A G 6: 35,489,176 (GRCm39) L116P possibly damaging Het
Myh7 T C 14: 55,213,454 (GRCm39) T1351A probably benign Het
Nectin3 A T 16: 46,274,998 (GRCm39) I353N probably damaging Het
Nprl3 A T 11: 32,183,948 (GRCm39) N500K probably benign Het
Nup93 T A 8: 95,019,348 (GRCm39) I181N probably benign Het
Optc T C 1: 133,832,978 (GRCm39) I41V probably benign Het
Or1b1 G A 2: 36,994,801 (GRCm39) T287I probably damaging Het
Or4p23 T C 2: 88,576,776 (GRCm39) H152R probably damaging Het
Pcdh7 C A 5: 58,286,663 (GRCm39) N1246K probably benign Het
Pcdhb3 T A 18: 37,435,166 (GRCm39) D377E probably benign Het
Pnpla6 C T 8: 3,573,294 (GRCm39) P386L probably benign Het
Polr3a T C 14: 24,520,899 (GRCm39) T587A probably benign Het
Pramel1 T G 4: 143,125,099 (GRCm39) L341R probably damaging Het
Rhot2 A T 17: 26,060,740 (GRCm39) N210K probably damaging Het
Slc37a1 A G 17: 31,519,459 (GRCm39) I12V probably benign Het
Spmip7 T A 11: 11,414,678 (GRCm39) D141E Het
Sstr3 G T 15: 78,423,792 (GRCm39) N318K probably damaging Het
Ssx2ip T C 3: 146,142,955 (GRCm39) V511A probably benign Het
Stfa1 G A 16: 36,100,930 (GRCm39) V57I unknown Het
Syne1 T G 10: 5,212,793 (GRCm39) R3265S probably damaging Het
Tacc2 G T 7: 130,228,533 (GRCm39) K1739N probably damaging Het
Tas2r143 A T 6: 42,377,673 (GRCm39) M168L probably benign Het
Tm4sf1 A T 3: 57,202,031 (GRCm39) probably null Het
Ttc16 A G 2: 32,653,017 (GRCm39) I604T possibly damaging Het
Ugt1a10 T A 1: 87,983,393 (GRCm39) W64R possibly damaging Het
Usp34 A T 11: 23,439,064 (GRCm39) H3561L Het
Vasp C T 7: 18,993,376 (GRCm39) V276I unknown Het
Vwa3a A G 7: 120,374,687 (GRCm39) N333S probably benign Het
Wipf3 A G 6: 54,460,866 (GRCm39) N105D probably benign Het
Zfp760 T C 17: 21,942,663 (GRCm39) S613P possibly damaging Het
Other mutations in Lin9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Lin9 APN 1 180,494,932 (GRCm39) missense probably damaging 1.00
IGL02221:Lin9 APN 1 180,478,399 (GRCm39) missense probably benign 0.03
IGL02233:Lin9 APN 1 180,516,865 (GRCm39) missense probably damaging 0.98
IGL02370:Lin9 APN 1 180,515,583 (GRCm39) missense probably damaging 1.00
IGL02794:Lin9 APN 1 180,479,444 (GRCm39) missense probably damaging 1.00
grosbeak UTSW 1 180,496,450 (GRCm39) critical splice donor site probably null
linnet UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R0278:Lin9 UTSW 1 180,493,488 (GRCm39) missense probably damaging 1.00
R1488:Lin9 UTSW 1 180,515,850 (GRCm39) missense possibly damaging 0.61
R3808:Lin9 UTSW 1 180,486,676 (GRCm39) missense probably null 0.32
R3809:Lin9 UTSW 1 180,486,676 (GRCm39) missense probably null 0.32
R3884:Lin9 UTSW 1 180,515,630 (GRCm39) nonsense probably null
R3978:Lin9 UTSW 1 180,496,357 (GRCm39) missense possibly damaging 0.94
R4600:Lin9 UTSW 1 180,508,759 (GRCm39) missense probably damaging 0.99
R4625:Lin9 UTSW 1 180,516,845 (GRCm39) missense probably damaging 0.99
R4730:Lin9 UTSW 1 180,493,416 (GRCm39) nonsense probably null
R4987:Lin9 UTSW 1 180,496,329 (GRCm39) missense probably damaging 1.00
R5034:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5035:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5045:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5046:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5148:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5180:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5181:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5221:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5222:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5329:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5332:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5633:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5634:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5696:Lin9 UTSW 1 180,486,646 (GRCm39) missense probably benign 0.00
R5812:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5813:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5814:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R5851:Lin9 UTSW 1 180,496,763 (GRCm39) missense probably benign 0.01
R7046:Lin9 UTSW 1 180,494,935 (GRCm39) missense probably damaging 1.00
R7084:Lin9 UTSW 1 180,515,661 (GRCm39) missense probably benign 0.11
R8163:Lin9 UTSW 1 180,486,691 (GRCm39) missense probably damaging 1.00
R8421:Lin9 UTSW 1 180,493,365 (GRCm39) missense probably damaging 1.00
R8776:Lin9 UTSW 1 180,496,450 (GRCm39) critical splice donor site probably null
R8776-TAIL:Lin9 UTSW 1 180,496,450 (GRCm39) critical splice donor site probably null
R9283:Lin9 UTSW 1 180,493,493 (GRCm39) missense probably damaging 1.00
R9696:Lin9 UTSW 1 180,496,733 (GRCm39) missense possibly damaging 0.60
Z1177:Lin9 UTSW 1 180,478,367 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GTGCCAAGTTAAGAATCATCACTTC -3'
(R):5'- GGTTGGGAAATCCTAAGGATCTC -3'

Sequencing Primer
(F):5'- AGAATCATCACTTCGGGCTG -3'
(R):5'- GGGAAATCCTAAGGATCTCTTCTTTG -3'
Posted On 2022-03-25