Incidental Mutation 'R5820:Lats1'
ID 449872
Institutional Source Beutler Lab
Gene Symbol Lats1
Ensembl Gene ENSMUSG00000040021
Gene Name large tumor suppressor
Synonyms
MMRRC Submission 043400-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R5820 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 7556978-7592224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7581672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 819 (H819L)
Ref Sequence ENSEMBL: ENSMUSP00000151533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040043] [ENSMUST00000165952] [ENSMUST00000217931]
AlphaFold Q8BYR2
Predicted Effect probably damaging
Transcript: ENSMUST00000040043
AA Change: H819L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: H819L

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 damaging
Transcript: ENSMUST00000165952
AA Change: H819L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: H819L

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 damaging
Transcript: ENSMUST00000217931
AA Change: H819L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,841,607 (GRCm39) Y596H probably benign Het
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef38 A T 3: 132,866,560 (GRCm39) D192E probably benign Het
Arhgef40 T C 14: 52,224,953 (GRCm39) F33L possibly damaging Het
Arid1b A G 17: 5,046,529 (GRCm39) Y439C possibly damaging Het
Bltp1 T C 3: 37,093,675 (GRCm39) V875A probably benign Het
Bop1 G A 15: 76,339,041 (GRCm39) P386S probably damaging Het
Cacna1s A G 1: 136,007,342 (GRCm39) H453R probably damaging Het
Canx A G 11: 50,199,210 (GRCm39) V153A probably damaging Het
Chfr T A 5: 110,310,605 (GRCm39) D475E possibly damaging Het
Clcn7 A C 17: 25,368,026 (GRCm39) K208T probably damaging Het
Cmya5 G T 13: 93,229,288 (GRCm39) N1933K probably benign Het
CN725425 A G 15: 91,144,900 (GRCm39) T588A possibly damaging Het
Cwh43 G A 5: 73,585,975 (GRCm39) W358* probably null Het
Cyfip2 A T 11: 46,091,531 (GRCm39) W1130R probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Disp1 T C 1: 182,917,151 (GRCm39) S92G probably benign Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Ecscr C A 18: 35,850,320 (GRCm39) V52F possibly damaging Het
Epha7 A T 4: 28,949,365 (GRCm39) N712I probably damaging Het
Eva1a C T 6: 82,048,154 (GRCm39) P11S probably benign Het
Fam187b T C 7: 30,676,577 (GRCm39) C29R probably damaging Het
Fau T C 19: 6,109,452 (GRCm39) V117A probably benign Het
Fbxw11 A G 11: 32,685,374 (GRCm39) D369G probably damaging Het
Fkbp15 A G 4: 62,263,783 (GRCm39) F95L probably benign Het
Fkbp6 A T 5: 135,368,774 (GRCm39) probably null Het
Fmo9 T C 1: 166,492,170 (GRCm39) K367E possibly damaging Het
Gad2 T C 2: 22,580,261 (GRCm39) V554A probably benign Het
Gm18025 T C 12: 34,340,631 (GRCm39) D154G probably benign Het
Gm4353 A G 7: 115,683,693 (GRCm39) F34S possibly damaging Het
Gucy2e A G 11: 69,123,522 (GRCm39) I459T probably benign Het
Hpx A G 7: 105,240,995 (GRCm39) I426T possibly damaging Het
Hspa9 T C 18: 35,076,227 (GRCm39) T362A possibly damaging Het
Insr G A 8: 3,205,976 (GRCm39) P1271L probably damaging Het
Jarid2 G A 13: 45,055,777 (GRCm39) V328I possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif18b A G 11: 102,803,874 (GRCm39) S429P probably benign Het
Lmnb1 T A 18: 56,873,858 (GRCm39) D421E possibly damaging Het
Lrp4 T C 2: 91,322,960 (GRCm39) I1148T probably damaging Het
Map1b T A 13: 99,569,332 (GRCm39) M1130L unknown Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Myh6 T C 14: 55,196,137 (GRCm39) Y554C probably damaging Het
Myl4 T C 11: 104,474,806 (GRCm39) F52L probably damaging Het
Nol12 C T 15: 78,824,680 (GRCm39) T169I probably benign Het
Nrde2 C T 12: 100,098,546 (GRCm39) R707H probably benign Het
Oasl1 G A 5: 115,075,037 (GRCm39) V366M possibly damaging Het
Or8b47 T C 9: 38,435,895 (GRCm39) I289T possibly damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polrmt C T 10: 79,574,157 (GRCm39) probably null Het
Ppil4 A G 10: 7,686,174 (GRCm39) D344G probably null Het
Ppp2r3d C T 9: 124,422,765 (GRCm38) A69T possibly damaging Het
Prmt3 C T 7: 49,498,554 (GRCm39) P487S probably damaging Het
Ptprm A T 17: 66,996,460 (GRCm39) L1209H probably damaging Het
Rnf115 G A 3: 96,635,164 (GRCm39) probably benign Het
Sec63 A G 10: 42,672,241 (GRCm39) D185G possibly damaging Het
Sema4b T C 7: 79,874,706 (GRCm39) S699P probably damaging Het
Serpinb3d T G 1: 107,006,089 (GRCm39) E333A probably damaging Het
Sh3rf2 T C 18: 42,274,112 (GRCm39) L426P possibly damaging Het
Slco6d1 A G 1: 98,427,503 (GRCm39) I611M probably damaging Het
Stk31 T A 6: 49,394,219 (GRCm39) Y194N probably damaging Het
Tlr9 G A 9: 106,099,906 (GRCm39) probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn1r188 G A 13: 22,272,256 (GRCm39) G70D possibly damaging Het
Zfp318 A G 17: 46,723,699 (GRCm39) M1901V probably benign Het
Zfp407 A T 18: 84,578,649 (GRCm39) D821E probably benign 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
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
R8166:Lats1 UTSW 10 7,577,880 (GRCm39) missense probably benign
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'- CCTAGCAGAAGCCGACAATG -3'
(R):5'- TCTCATTCAGTGTTGAAGCCAC -3'

Sequencing Primer
(F):5'- CGACAATGAGTGGGTGGTCC -3'
(R):5'- GAAGCCACTGTAAATTGTACTGC -3'
Posted On 2016-12-20