Incidental Mutation 'R1914:Lats1'
ID 214696
Institutional Source Beutler Lab
Gene Symbol Lats1
Ensembl Gene ENSMUSG00000040021
Gene Name large tumor suppressor
Synonyms
MMRRC Submission 039932-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R1914 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 7681214-7716460 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 7710457 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040043] [ENSMUST00000165952] [ENSMUST00000217931]
AlphaFold Q8BYR2
Predicted Effect probably benign
Transcript: ENSMUST00000040043
SMART Domains Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021

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
SMART Domains Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021

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: ENSMUST00000217931
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,485,850 (GRCm38) V618E possibly damaging Het
Abca6 T C 11: 110,212,210 (GRCm38) R852G probably benign Het
Akap12 G A 10: 4,356,685 (GRCm38) R1165H probably benign Het
Asxl1 T C 2: 153,401,906 (GRCm38) S1459P probably damaging Het
Bahcc1 C T 11: 120,285,399 (GRCm38) R1957C probably damaging Het
Bcar1 A G 8: 111,715,398 (GRCm38) V270A probably damaging Het
Camsap3 C T 8: 3,604,708 (GRCm38) R782C probably damaging Het
Capn15 C A 17: 25,964,863 (GRCm38) A215S probably benign Het
Casz1 T C 4: 148,932,958 (GRCm38) F235L probably damaging Het
Ccdc57 A T 11: 120,903,308 (GRCm38) probably benign Het
Cdh23 A G 10: 60,323,570 (GRCm38) V2142A probably damaging Het
Cdx1 A G 18: 61,019,898 (GRCm38) V212A probably benign Het
Cep104 T C 4: 153,989,839 (GRCm38) L516P possibly damaging Het
Cep95 C T 11: 106,814,638 (GRCm38) T483I probably damaging Het
Cfap100 T C 6: 90,412,347 (GRCm38) probably benign Het
Chia1 T A 3: 106,128,559 (GRCm38) N238K probably benign Het
Cntrl T C 2: 35,162,861 (GRCm38) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm38) F8S probably benign Het
Cpeb3 C T 19: 37,054,265 (GRCm38) R579Q probably damaging Het
Dbh A G 2: 27,168,222 (GRCm38) D134G probably damaging Het
Diaph3 A C 14: 86,656,485 (GRCm38) N29K probably damaging Het
Dnajc2 A G 5: 21,781,319 (GRCm38) probably null Het
Ephb1 C T 9: 101,929,378 (GRCm38) C819Y probably damaging Het
Eps8l2 G A 7: 141,361,852 (GRCm38) V650M probably damaging Het
Erlin1 T C 19: 44,059,065 (GRCm38) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,779,193 (GRCm38) probably benign Het
Gal3st4 T A 5: 138,265,410 (GRCm38) K442N probably benign Het
Gas6 T C 8: 13,477,152 (GRCm38) T199A probably benign Het
Gm10644 G A 8: 83,933,850 (GRCm38) probably benign Het
Gpr88 G T 3: 116,252,424 (GRCm38) S79R possibly damaging Het
Grm4 A T 17: 27,434,712 (GRCm38) C755S probably damaging Het
Hdgfl2 A G 17: 56,096,978 (GRCm38) D278G probably damaging Het
Heatr5a G T 12: 51,905,467 (GRCm38) A1130E probably damaging Het
Heatr9 T G 11: 83,518,209 (GRCm38) I171L possibly damaging Het
Hectd4 A G 5: 121,322,294 (GRCm38) T2209A probably benign Het
Hsh2d A G 8: 72,193,521 (GRCm38) T21A probably damaging Het
Ing1 T A 8: 11,561,577 (GRCm38) V63E probably damaging Het
Irf4 A T 13: 30,761,462 (GRCm38) Q397L probably benign Het
Itgae T A 11: 73,118,643 (GRCm38) probably benign Het
Jrkl A T 9: 13,245,604 (GRCm38) D17E possibly damaging Het
Kcnh6 T A 11: 106,017,444 (GRCm38) Y295* probably null Het
Klf5 T C 14: 99,301,921 (GRCm38) S177P probably benign Het
Lilrb4a A G 10: 51,491,949 (GRCm38) I53M probably benign Het
Lrrc2 T A 9: 110,980,939 (GRCm38) Y348N probably damaging Het
Man1c1 G C 4: 134,703,438 (GRCm38) P11R probably damaging Het
Med25 A G 7: 44,884,622 (GRCm38) S245P probably benign Het
Mlh3 T C 12: 85,261,668 (GRCm38) Y1115C probably benign Het
Mslnl G A 17: 25,742,934 (GRCm38) V128M probably damaging Het
Myh10 T C 11: 68,790,208 (GRCm38) L1025P probably damaging Het
Myof T A 19: 37,977,693 (GRCm38) N393I probably damaging Het
Naip6 T A 13: 100,299,428 (GRCm38) E862D probably benign Het
Ncald C T 15: 37,397,080 (GRCm38) A119T probably benign Het
Nipbl T C 15: 8,343,630 (GRCm38) E1044G possibly damaging Het
Nyap2 T C 1: 81,191,887 (GRCm38) S120P probably damaging Het
Oas1a A T 5: 120,905,813 (GRCm38) N85K possibly damaging Het
Olfr870 T C 9: 20,171,028 (GRCm38) Y181C probably benign Het
Pappa2 A T 1: 158,750,563 (GRCm38) D1721E probably damaging Het
Pcid2 A T 8: 13,094,141 (GRCm38) probably null Het
Pou2f2 C T 7: 25,100,156 (GRCm38) A92T possibly damaging Het
Ppp1r16a T C 15: 76,693,068 (GRCm38) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm38) L84Q probably damaging Het
Ptgr2 A T 12: 84,302,322 (GRCm38) Q145L probably benign Het
Pudp T C 18: 50,568,207 (GRCm38) N152D probably benign Het
Rabggta A T 14: 55,721,189 (GRCm38) F62L possibly damaging Het
Rasal3 G A 17: 32,396,350 (GRCm38) Q505* probably null Het
Rbm20 T A 19: 53,864,087 (GRCm38) L1166Q probably damaging Het
Rictor T G 15: 6,759,572 (GRCm38) I223R probably damaging Het
Ripor1 A T 8: 105,616,886 (GRCm38) E270D probably damaging Het
Rorc T C 3: 94,391,173 (GRCm38) C322R probably damaging Het
Rpgrip1l T C 8: 91,232,924 (GRCm38) D1116G probably benign Het
Rsph4a A T 10: 33,913,072 (GRCm38) N638Y probably damaging Het
Scn9a A G 2: 66,566,250 (GRCm38) F100L probably damaging Het
Siglece A G 7: 43,657,795 (GRCm38) V256A probably benign Het
Slc23a2 A T 2: 132,056,766 (GRCm38) L617Q probably damaging Het
Snx9 T C 17: 5,928,256 (GRCm38) I567T possibly damaging Het
Sptan1 C G 2: 30,011,036 (GRCm38) Q1425E probably benign Het
Srd5a3 G A 5: 76,147,705 (GRCm38) V81I probably benign Het
Sugp2 T A 8: 70,253,660 (GRCm38) I790K probably damaging Het
Syde2 T G 3: 146,014,316 (GRCm38) Y764* probably null Het
Tbl1xr1 T C 3: 22,190,910 (GRCm38) probably benign Het
Tmem130 A G 5: 144,737,856 (GRCm38) F353S probably damaging Het
Tmem131 T A 1: 36,796,266 (GRCm38) K1591N probably damaging Het
Trim43c T A 9: 88,840,617 (GRCm38) D105E probably benign Het
Urb2 C A 8: 124,029,798 (GRCm38) T748K possibly damaging Het
Vmn2r18 T C 5: 151,575,821 (GRCm38) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm38) S2648F possibly damaging Het
Other mutations in Lats1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Lats1 APN 10 7,691,566 (GRCm38) missense probably damaging 0.99
IGL00595:Lats1 APN 10 7,702,305 (GRCm38) missense probably benign 0.00
IGL00932:Lats1 APN 10 7,712,742 (GRCm38) missense possibly damaging 0.69
IGL01019:Lats1 APN 10 7,705,671 (GRCm38) missense probably damaging 1.00
IGL01380:Lats1 APN 10 7,691,780 (GRCm38) missense possibly damaging 0.69
IGL01965:Lats1 APN 10 7,701,706 (GRCm38) missense probably benign 0.10
IGL02027:Lats1 APN 10 7,712,948 (GRCm38) missense probably benign
IGL02611:Lats1 APN 10 7,705,787 (GRCm38) missense possibly damaging 0.91
IGL02997:Lats1 APN 10 7,702,254 (GRCm38) missense possibly damaging 0.53
IGL03107:Lats1 APN 10 7,712,746 (GRCm38) missense probably benign 0.15
I1329:Lats1 UTSW 10 7,712,802 (GRCm38) missense probably benign 0.10
PIT4378001:Lats1 UTSW 10 7,705,605 (GRCm38) missense probably damaging 1.00
R0153:Lats1 UTSW 10 7,691,575 (GRCm38) missense probably damaging 1.00
R0568:Lats1 UTSW 10 7,712,528 (GRCm38) missense possibly damaging 0.69
R0581:Lats1 UTSW 10 7,702,941 (GRCm38) missense possibly damaging 0.67
R0604:Lats1 UTSW 10 7,712,661 (GRCm38) missense probably damaging 0.96
R1681:Lats1 UTSW 10 7,705,914 (GRCm38) missense probably damaging 0.99
R1694:Lats1 UTSW 10 7,701,945 (GRCm38) missense probably benign 0.07
R1840:Lats1 UTSW 10 7,710,939 (GRCm38) nonsense probably null
R2137:Lats1 UTSW 10 7,701,847 (GRCm38) missense possibly damaging 0.71
R2317:Lats1 UTSW 10 7,691,776 (GRCm38) nonsense probably null
R3863:Lats1 UTSW 10 7,705,746 (GRCm38) missense probably damaging 1.00
R3864:Lats1 UTSW 10 7,705,746 (GRCm38) missense probably damaging 1.00
R4597:Lats1 UTSW 10 7,691,746 (GRCm38) missense probably benign 0.00
R4657:Lats1 UTSW 10 7,705,684 (GRCm38) missense possibly damaging 0.82
R4658:Lats1 UTSW 10 7,702,729 (GRCm38) missense probably benign
R4663:Lats1 UTSW 10 7,712,583 (GRCm38) missense probably damaging 1.00
R4870:Lats1 UTSW 10 7,705,785 (GRCm38) missense probably damaging 1.00
R5101:Lats1 UTSW 10 7,712,584 (GRCm38) nonsense probably null
R5134:Lats1 UTSW 10 7,691,811 (GRCm38) missense probably benign 0.34
R5150:Lats1 UTSW 10 7,712,651 (GRCm38) missense probably benign
R5546:Lats1 UTSW 10 7,705,754 (GRCm38) missense probably damaging 0.99
R5820:Lats1 UTSW 10 7,705,908 (GRCm38) missense probably damaging 1.00
R6006:Lats1 UTSW 10 7,705,595 (GRCm38) missense probably damaging 1.00
R6301:Lats1 UTSW 10 7,703,107 (GRCm38) missense probably benign 0.01
R6544:Lats1 UTSW 10 7,701,670 (GRCm38) missense possibly damaging 0.94
R6647:Lats1 UTSW 10 7,697,507 (GRCm38) missense possibly damaging 0.81
R6874:Lats1 UTSW 10 7,710,851 (GRCm38) missense probably damaging 1.00
R7328:Lats1 UTSW 10 7,705,547 (GRCm38) missense possibly damaging 0.62
R7390:Lats1 UTSW 10 7,702,095 (GRCm38) nonsense probably null
R7438:Lats1 UTSW 10 7,712,942 (GRCm38) nonsense probably null
R7457:Lats1 UTSW 10 7,710,891 (GRCm38) missense probably damaging 1.00
R7524:Lats1 UTSW 10 7,701,978 (GRCm38) missense possibly damaging 0.89
R7593:Lats1 UTSW 10 7,701,712 (GRCm38) missense probably damaging 1.00
R7736:Lats1 UTSW 10 7,702,364 (GRCm38) missense probably damaging 1.00
R7884:Lats1 UTSW 10 7,697,526 (GRCm38) nonsense probably null
R8166:Lats1 UTSW 10 7,702,116 (GRCm38) missense probably benign
R8248:Lats1 UTSW 10 7,705,903 (GRCm38) missense probably damaging 1.00
R8458:Lats1 UTSW 10 7,710,924 (GRCm38) nonsense probably null
R8477:Lats1 UTSW 10 7,705,515 (GRCm38) missense probably damaging 1.00
R8547:Lats1 UTSW 10 7,712,849 (GRCm38) missense probably damaging 1.00
R9163:Lats1 UTSW 10 7,702,288 (GRCm38) missense probably benign
R9441:Lats1 UTSW 10 7,702,917 (GRCm38) missense probably damaging 0.96
R9673:Lats1 UTSW 10 7,712,623 (GRCm38) missense probably benign 0.29
RF021:Lats1 UTSW 10 7,710,608 (GRCm38) missense probably damaging 1.00
X0026:Lats1 UTSW 10 7,710,623 (GRCm38) missense probably damaging 1.00
X0053:Lats1 UTSW 10 7,691,609 (GRCm38) missense probably benign 0.00
Z1176:Lats1 UTSW 10 7,705,809 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTTTAGCCACGACTCATGAC -3'
(R):5'- GGTGCAATATAATTGGGAGTCCC -3'

Sequencing Primer
(F):5'- GCCACGACTCATGACTTATATTG -3'
(R):5'- GGAGTCCCAACCAGAGAATG -3'
Posted On 2014-07-14