Incidental Mutation 'R5046:Lin9'
ID 394358
Institutional Source Beutler Lab
Gene Symbol Lin9
Ensembl Gene ENSMUSG00000058729
Gene Name lin-9 DREAM MuvB core complex component
Synonyms 2700022J23Rik
MMRRC Submission 042636-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5046 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180468715-180518252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180496763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 351 (L351I)
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 benign
Transcript: ENSMUST00000085803
AA Change: L335I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000082959
Gene: ENSMUSG00000058729
AA Change: L335I

DomainStartEndE-ValueType
DIRP 127 232 2.93e-67 SMART
coiled coil region 354 412 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000085804
SMART Domains Protein: ENSMUSP00000082960
Gene: ENSMUSG00000058729

DomainStartEndE-ValueType
DIRP 127 232 2.93e-67 SMART
coiled coil region 354 412 N/A INTRINSIC
transmembrane domain 416 438 N/A INTRINSIC
low complexity region 445 458 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191744
Predicted Effect probably benign
Transcript: ENSMUST00000192561
AA Change: L351I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: L351I

DomainStartEndE-ValueType
DIRP 143 248 2.2e-71 SMART
coiled coil region 370 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192725
AA Change: L311I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: L311I

DomainStartEndE-ValueType
DIRP 103 208 2.2e-71 SMART
coiled coil region 330 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193892
SMART Domains Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729

DomainStartEndE-ValueType
DIRP 127 232 2.2e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194638
Meta Mutation Damage Score 0.0673 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C A 7: 119,302,597 (GRCm39) H241N probably damaging Het
Arhgap32 G A 9: 32,168,095 (GRCm39) A693T probably damaging Het
B4galnt3 G T 6: 120,191,759 (GRCm39) A658D probably damaging Het
Car12 G A 9: 66,653,895 (GRCm39) E84K probably benign Het
Crocc2 T A 1: 93,133,624 (GRCm39) S969T probably damaging Het
Crym A G 7: 119,794,667 (GRCm39) V184A possibly damaging Het
Cryzl2 T C 1: 157,292,583 (GRCm39) C122R probably damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A G 7: 119,550,803 (GRCm39) L3161P probably damaging Het
Dnajc5g A G 5: 31,267,036 (GRCm39) N104S probably benign Het
Fcgr1 T G 3: 96,194,302 (GRCm39) K195T probably damaging Het
Gal C T 19: 3,461,167 (GRCm39) R89H probably damaging Het
Gcfc2 C T 6: 81,925,316 (GRCm39) A577V probably benign Het
Gm5116 A C 7: 32,195,379 (GRCm39) noncoding transcript Het
Golga3 A T 5: 110,340,806 (GRCm39) Q540L probably damaging Het
Hectd1 T C 12: 51,797,171 (GRCm39) E2184G probably damaging Het
Hspa12a T C 19: 58,787,977 (GRCm39) D615G probably damaging Het
Igkv14-130 A T 6: 67,768,465 (GRCm39) Y107F probably damaging Het
Ldlr T A 9: 21,657,203 (GRCm39) probably null Het
Lrrc37a A T 11: 103,389,066 (GRCm39) S2120T unknown Het
Mtfmt G T 9: 65,346,897 (GRCm39) V164F probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Ndufc2 G T 7: 97,056,871 (GRCm39) R120L probably damaging Het
Neo1 A T 9: 58,801,194 (GRCm39) V1156D possibly damaging Het
Nlrp1b G A 11: 71,050,898 (GRCm39) P1065S possibly damaging Het
Nop9 A G 14: 55,983,397 (GRCm39) H56R possibly damaging Het
Or4k41 A T 2: 111,279,934 (GRCm39) T150S probably benign Het
Or6c75 A T 10: 129,337,178 (GRCm39) M142L possibly damaging Het
Pign A T 1: 105,449,798 (GRCm39) N909K possibly damaging Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Racgap1 G A 15: 99,526,643 (GRCm39) R307W probably damaging Het
Rap1gds1 C A 3: 138,661,181 (GRCm39) E399* probably null Het
Rwdd4a G A 8: 47,995,837 (GRCm39) probably null Het
Sanbr A C 11: 23,570,354 (GRCm39) M182R probably benign Het
Scp2 T C 4: 107,928,488 (GRCm39) T401A probably benign Het
Sdha A G 13: 74,475,452 (GRCm39) F526S probably damaging Het
Shroom1 T A 11: 53,354,872 (GRCm39) L264Q probably benign Het
Sorl1 T C 9: 41,907,590 (GRCm39) T1466A probably benign Het
Trpm2 C T 10: 77,801,852 (GRCm39) C71Y probably damaging Het
Ugt2b34 G A 5: 87,052,246 (GRCm39) S250L probably benign Het
Vmn2r88 A G 14: 51,650,638 (GRCm39) D117G probably benign Het
Wdr73 A T 7: 80,542,173 (GRCm39) probably benign 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
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
R9264:Lin9 UTSW 1 180,494,912 (GRCm39) missense probably damaging 0.99
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'- AGCTACTTCAGGACTTGAGCTAC -3'
(R):5'- TGGAAATAGCAGAGTCCTGAAAACC -3'

Sequencing Primer
(F):5'- CAGGACTTGAGCTACCAATATTATG -3'
(R):5'- GAGTCCTGAAAACCCACATAGTG -3'
Posted On 2016-06-15