Incidental Mutation 'R8166:Lats1'
ID 633786
Institutional Source Beutler Lab
Gene Symbol Lats1
Ensembl Gene ENSMUSG00000040021
Gene Name large tumor suppressor
Synonyms
MMRRC Submission 067592-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R8166 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 7556978-7592224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7577880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 335 (T335A)
Ref Sequence ENSEMBL: ENSMUSP00000132078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040043] [ENSMUST00000165952]
AlphaFold Q8BYR2
Predicted Effect probably benign
Transcript: ENSMUST00000040043
AA Change: T335A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: T335A

DomainStartEndE-ValueType
Pfam:UBA 101 138 7.4e-11 PFAM
low complexity region 228 267 N/A INTRINSIC
low complexity region 301 314 N/A INTRINSIC
low complexity region 371 379 N/A INTRINSIC
low complexity region 433 445 N/A INTRINSIC
low complexity region 482 493 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
low complexity region 554 559 N/A INTRINSIC
S_TKc 704 1009 7.3e-99 SMART
S_TK_X 1010 1081 1.2e-2 SMART
low complexity region 1102 1120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165952
AA Change: T335A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: T335A

DomainStartEndE-ValueType
Pfam:UBA 101 138 7.4e-11 PFAM
low complexity region 228 267 N/A INTRINSIC
low complexity region 301 314 N/A INTRINSIC
low complexity region 371 379 N/A INTRINSIC
low complexity region 433 445 N/A INTRINSIC
low complexity region 482 493 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
low complexity region 554 559 N/A INTRINSIC
S_TKc 704 1009 7.3e-99 SMART
S_TK_X 1010 1081 1.2e-2 SMART
low complexity region 1102 1120 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. Two protein-coding transcripts and one non-protein coding transcript have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,144,232 (GRCm39) V569A probably benign Het
Actrt3 A G 3: 30,652,674 (GRCm39) F140S probably damaging Het
Alx1 T A 10: 102,845,224 (GRCm39) Q269L probably damaging Het
Amph G T 13: 19,132,660 (GRCm39) A20S possibly damaging Het
Aqr T A 2: 113,943,806 (GRCm39) M1111L possibly damaging Het
Atp10a A T 7: 58,457,270 (GRCm39) H923L possibly damaging Het
Bmpr1a A C 14: 34,147,026 (GRCm39) W249G probably damaging Het
Bmpr2 A T 1: 59,906,740 (GRCm39) N611I probably damaging Het
Cadm2 A G 16: 66,750,197 (GRCm39) L9S probably benign Het
Ccdc102a C A 8: 95,639,944 (GRCm39) A117S possibly damaging Het
Clec4f G T 6: 83,629,624 (GRCm39) S311R possibly damaging Het
Dchs2 T A 3: 83,261,640 (GRCm39) I2636N probably benign Het
Dync2h1 T A 9: 7,129,089 (GRCm39) K1809* probably null Het
Efs C T 14: 55,158,077 (GRCm39) R108Q probably damaging Het
Eif5b A G 1: 38,087,901 (GRCm39) T966A probably benign Het
Entrep2 A G 7: 64,409,153 (GRCm39) S414P probably benign Het
Flnc A C 6: 29,433,731 (GRCm39) N92H probably damaging Het
Gm13030 A T 4: 138,598,533 (GRCm39) L130H unknown Het
Gm17190 A C 13: 96,219,142 (GRCm39) R159S unknown Het
Hipk1 T C 3: 103,685,489 (GRCm39) Y42C possibly damaging Het
Ifi207 C A 1: 173,557,166 (GRCm39) C524F possibly damaging Het
Ifi207 A C 1: 173,557,504 (GRCm39) S411R probably benign Het
Ighv8-9 G T 12: 115,432,212 (GRCm39) P33H probably damaging Het
Igkv8-34 A G 6: 70,021,619 (GRCm39) V15A probably benign Het
Irx5 T A 8: 93,086,712 (GRCm39) probably null Het
Kcnh4 A G 11: 100,632,712 (GRCm39) L925P probably benign Het
Kctd9 G A 14: 67,967,141 (GRCm39) R153H possibly damaging Het
Med20 A G 17: 47,924,027 (GRCm39) T52A probably benign Het
Msantd4 A T 9: 4,384,095 (GRCm39) T139S possibly damaging Het
Mtif3 T C 5: 146,896,052 (GRCm39) T12A probably benign Het
N4bp2 T G 5: 65,977,655 (GRCm39) S1518A probably benign Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nasp A T 4: 116,468,112 (GRCm39) V291E probably benign Het
Ncapg2 T G 12: 116,376,036 (GRCm39) D40E probably benign Het
Nipsnap1 A G 11: 4,834,057 (GRCm39) D103G probably benign Het
Nsmce1 A G 7: 125,070,319 (GRCm39) L164P probably damaging Het
Ogdhl G A 14: 32,059,763 (GRCm39) V426I probably damaging Het
Or5p66 A G 7: 107,885,904 (GRCm39) V143A probably benign Het
P3h2 T C 16: 25,811,572 (GRCm39) E217G possibly damaging Het
Pnpt1 A G 11: 29,106,875 (GRCm39) I649V probably benign Het
Prxl2c A T 13: 64,456,921 (GRCm39) Y101N Het
Pum2 G A 12: 8,771,739 (GRCm39) A361T possibly damaging Het
Rictor G A 15: 6,798,815 (GRCm39) probably null Het
Rps6ka4 G A 19: 6,814,811 (GRCm39) R264W possibly damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall1 T C 8: 89,755,146 (GRCm39) T1278A probably benign Het
Scg2 T A 1: 79,413,300 (GRCm39) K434N possibly damaging Het
Suclg1 T A 6: 73,237,555 (GRCm39) V100D probably damaging Het
Tarbp1 T G 8: 127,153,867 (GRCm39) E1528D possibly damaging Het
Trgc1 A G 13: 19,400,772 (GRCm39) N167S Het
Tshz2 C A 2: 169,725,575 (GRCm39) T57K probably benign Het
Ttc22 G A 4: 106,491,673 (GRCm39) R229H probably damaging Het
Vcan A G 13: 89,840,855 (GRCm39) V1563A probably benign Het
Vmn1r68 A T 7: 10,261,888 (GRCm39) M70K probably benign Het
Vmn2r105 A T 17: 20,428,904 (GRCm39) I724N probably benign Het
Vmn2r96 T C 17: 18,802,744 (GRCm39) L26P probably damaging Het
Wdr72 G A 9: 74,120,610 (GRCm39) S955N probably benign Het
Zfp518b C A 5: 38,831,838 (GRCm39) A56S probably damaging Het
Other mutations in Lats1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Lats1 APN 10 7,567,330 (GRCm39) missense probably damaging 0.99
IGL00595:Lats1 APN 10 7,578,069 (GRCm39) missense probably benign 0.00
IGL00932:Lats1 APN 10 7,588,506 (GRCm39) missense possibly damaging 0.69
IGL01019:Lats1 APN 10 7,581,435 (GRCm39) missense probably damaging 1.00
IGL01380:Lats1 APN 10 7,567,544 (GRCm39) missense possibly damaging 0.69
IGL01965:Lats1 APN 10 7,577,470 (GRCm39) missense probably benign 0.10
IGL02027:Lats1 APN 10 7,588,712 (GRCm39) missense probably benign
IGL02611:Lats1 APN 10 7,581,551 (GRCm39) missense possibly damaging 0.91
IGL02997:Lats1 APN 10 7,578,018 (GRCm39) missense possibly damaging 0.53
IGL03107:Lats1 APN 10 7,588,510 (GRCm39) missense probably benign 0.15
I1329:Lats1 UTSW 10 7,588,566 (GRCm39) missense probably benign 0.10
PIT4378001:Lats1 UTSW 10 7,581,369 (GRCm39) missense probably damaging 1.00
R0153:Lats1 UTSW 10 7,567,339 (GRCm39) missense probably damaging 1.00
R0568:Lats1 UTSW 10 7,588,292 (GRCm39) missense possibly damaging 0.69
R0581:Lats1 UTSW 10 7,578,705 (GRCm39) missense possibly damaging 0.67
R0604:Lats1 UTSW 10 7,588,425 (GRCm39) missense probably damaging 0.96
R1681:Lats1 UTSW 10 7,581,678 (GRCm39) missense probably damaging 0.99
R1694:Lats1 UTSW 10 7,577,709 (GRCm39) missense probably benign 0.07
R1840:Lats1 UTSW 10 7,586,703 (GRCm39) nonsense probably null
R1914:Lats1 UTSW 10 7,586,221 (GRCm39) splice site probably benign
R2137:Lats1 UTSW 10 7,577,611 (GRCm39) missense possibly damaging 0.71
R2317:Lats1 UTSW 10 7,567,540 (GRCm39) nonsense probably null
R3863:Lats1 UTSW 10 7,581,510 (GRCm39) missense probably damaging 1.00
R3864:Lats1 UTSW 10 7,581,510 (GRCm39) missense probably damaging 1.00
R4597:Lats1 UTSW 10 7,567,510 (GRCm39) missense probably benign 0.00
R4657:Lats1 UTSW 10 7,581,448 (GRCm39) missense possibly damaging 0.82
R4658:Lats1 UTSW 10 7,578,493 (GRCm39) missense probably benign
R4663:Lats1 UTSW 10 7,588,347 (GRCm39) missense probably damaging 1.00
R4870:Lats1 UTSW 10 7,581,549 (GRCm39) missense probably damaging 1.00
R5101:Lats1 UTSW 10 7,588,348 (GRCm39) nonsense probably null
R5134:Lats1 UTSW 10 7,567,575 (GRCm39) missense probably benign 0.34
R5150:Lats1 UTSW 10 7,588,415 (GRCm39) missense probably benign
R5546:Lats1 UTSW 10 7,581,518 (GRCm39) missense probably damaging 0.99
R5820:Lats1 UTSW 10 7,581,672 (GRCm39) missense probably damaging 1.00
R6006:Lats1 UTSW 10 7,581,359 (GRCm39) missense probably damaging 1.00
R6301:Lats1 UTSW 10 7,578,871 (GRCm39) missense probably benign 0.01
R6544:Lats1 UTSW 10 7,577,434 (GRCm39) missense possibly damaging 0.94
R6647:Lats1 UTSW 10 7,573,271 (GRCm39) missense possibly damaging 0.81
R6874:Lats1 UTSW 10 7,586,615 (GRCm39) missense probably damaging 1.00
R7328:Lats1 UTSW 10 7,581,311 (GRCm39) missense possibly damaging 0.62
R7390:Lats1 UTSW 10 7,577,859 (GRCm39) nonsense probably null
R7438:Lats1 UTSW 10 7,588,706 (GRCm39) nonsense probably null
R7457:Lats1 UTSW 10 7,586,655 (GRCm39) missense probably damaging 1.00
R7524:Lats1 UTSW 10 7,577,742 (GRCm39) missense possibly damaging 0.89
R7593:Lats1 UTSW 10 7,577,476 (GRCm39) missense probably damaging 1.00
R7736:Lats1 UTSW 10 7,578,128 (GRCm39) missense probably damaging 1.00
R7884:Lats1 UTSW 10 7,573,290 (GRCm39) nonsense probably null
R8248:Lats1 UTSW 10 7,581,667 (GRCm39) missense probably damaging 1.00
R8458:Lats1 UTSW 10 7,586,688 (GRCm39) nonsense probably null
R8477:Lats1 UTSW 10 7,581,279 (GRCm39) missense probably damaging 1.00
R8547:Lats1 UTSW 10 7,588,613 (GRCm39) missense probably damaging 1.00
R9163:Lats1 UTSW 10 7,578,052 (GRCm39) missense probably benign
R9441:Lats1 UTSW 10 7,578,681 (GRCm39) missense probably damaging 0.96
R9673:Lats1 UTSW 10 7,588,387 (GRCm39) missense probably benign 0.29
RF021:Lats1 UTSW 10 7,586,372 (GRCm39) missense probably damaging 1.00
X0026:Lats1 UTSW 10 7,586,387 (GRCm39) missense probably damaging 1.00
X0053:Lats1 UTSW 10 7,567,373 (GRCm39) missense probably benign 0.00
Z1176:Lats1 UTSW 10 7,581,573 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTCAGACAAAGCGCTAC -3'
(R):5'- AACGTTTCCATTGGCGAATGATG -3'

Sequencing Primer
(F):5'- CGCTACTCTGGGAACATGGAGTAC -3'
(R):5'- GCAGCAGAAGCCCCTGTTTG -3'
Posted On 2020-07-13