Incidental Mutation 'IGL01019:Lats1'
ID53837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lats1
Ensembl Gene ENSMUSG00000040021
Gene Namelarge tumor suppressor
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.813) question?
Stock #IGL01019
Quality Score
Status
Chromosome10
Chromosomal Location7681214-7716460 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7705671 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 740 (V740A)
Ref Sequence ENSEMBL: ENSMUSP00000151533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040043] [ENSMUST00000165952] [ENSMUST00000217931]
Predicted Effect probably damaging
Transcript: ENSMUST00000040043
AA Change: V740A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: V740A

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: V740A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: V740A

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: V740A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G T 3: 37,006,984 probably null Het
9930022D16Rik T C 11: 109,417,911 probably benign Het
Aatk T C 11: 120,012,275 S375G probably benign Het
Abcg8 T C 17: 84,691,995 M173T probably benign Het
B3galt2 A C 1: 143,646,757 R210S probably benign Het
Capn5 C T 7: 98,135,764 A168T probably damaging Het
Cbx7 C T 15: 79,930,628 G24D probably damaging Het
Ccdc7a A T 8: 129,061,618 S77T probably benign Het
Cd200r2 T A 16: 44,909,469 probably benign Het
Cdh11 T C 8: 102,679,745 H32R probably benign Het
Chdh A T 14: 30,031,332 N66I probably benign Het
Clca3a2 G A 3: 144,813,627 Q263* probably null Het
Dcc T C 18: 71,809,090 I319V probably benign Het
Depdc5 G T 5: 32,893,401 M170I probably damaging Het
Dopey2 T A 16: 93,810,229 L2140Q probably benign Het
Frem3 G A 8: 80,615,134 G1352E probably benign Het
Fsd1l T A 4: 53,694,742 C389S probably damaging Het
Grin2c C T 11: 115,258,110 A221T possibly damaging Het
Gstz1 C A 12: 87,163,801 P153T probably damaging Het
Itgb2 T C 10: 77,542,403 S22P possibly damaging Het
Krt87 G T 15: 101,438,431 Q114K possibly damaging Het
Krtap5-4 A C 7: 142,303,910 S106R unknown Het
Mcm9 C A 10: 53,629,945 G78C probably damaging Het
Mn1 G A 5: 111,421,547 E1128K possibly damaging Het
Myo1f G A 17: 33,593,003 R592H possibly damaging Het
Nfat5 G T 8: 107,367,514 A277S probably damaging Het
Nfkbia T A 12: 55,490,542 Y254F probably damaging Het
Nr3c2 A T 8: 76,909,214 N315Y probably damaging Het
Otof T C 5: 30,405,216 M258V probably benign Het
Panx3 C T 9: 37,661,471 C261Y probably damaging Het
Pdia2 C A 17: 26,198,922 G38W probably damaging Het
Psg19 G T 7: 18,794,046 Y257* probably null Het
Ptpre A T 7: 135,678,325 K586* probably null Het
Reps1 A G 10: 18,124,895 R752G probably damaging Het
Rpgrip1 T A 14: 52,131,176 D277E possibly damaging Het
Rpl21-ps6 A G 17: 55,915,671 noncoding transcript Het
Serpinf2 T A 11: 75,436,507 E198V possibly damaging Het
Sh3tc1 A G 5: 35,703,375 L1046P probably damaging Het
Snw1 T C 12: 87,450,941 E426G probably benign Het
Sord T A 2: 122,264,083 N317K probably benign Het
Taar3 A T 10: 23,950,432 D292V probably damaging Het
Tdrd3 C A 14: 87,472,182 T94K probably damaging Het
Ttn C A 2: 76,856,821 E736* probably null Het
Usp32 A G 11: 85,039,265 V562A probably damaging Het
Vmn1r169 T G 7: 23,577,186 M1R probably null Het
Vmn2r3 C T 3: 64,259,883 C609Y probably damaging Het
Vmn2r69 T C 7: 85,406,531 T800A probably benign Het
Vmn2r72 G A 7: 85,738,334 T674I probably benign Het
Zfp160 T A 17: 21,020,826 M52K possibly damaging Het
Zfp607a T A 7: 27,878,617 C371S probably damaging Het
Other mutations in Lats1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Lats1 APN 10 7691566 missense probably damaging 0.99
IGL00595:Lats1 APN 10 7702305 missense probably benign 0.00
IGL00932:Lats1 APN 10 7712742 missense possibly damaging 0.69
IGL01380:Lats1 APN 10 7691780 missense possibly damaging 0.69
IGL01965:Lats1 APN 10 7701706 missense probably benign 0.10
IGL02027:Lats1 APN 10 7712948 missense probably benign
IGL02611:Lats1 APN 10 7705787 missense possibly damaging 0.91
IGL02997:Lats1 APN 10 7702254 missense possibly damaging 0.53
IGL03107:Lats1 APN 10 7712746 missense probably benign 0.15
I1329:Lats1 UTSW 10 7712802 missense probably benign 0.10
PIT4378001:Lats1 UTSW 10 7705605 missense probably damaging 1.00
R0153:Lats1 UTSW 10 7691575 missense probably damaging 1.00
R0568:Lats1 UTSW 10 7712528 missense possibly damaging 0.69
R0581:Lats1 UTSW 10 7702941 missense possibly damaging 0.67
R0604:Lats1 UTSW 10 7712661 missense probably damaging 0.96
R1681:Lats1 UTSW 10 7705914 missense probably damaging 0.99
R1694:Lats1 UTSW 10 7701945 missense probably benign 0.07
R1840:Lats1 UTSW 10 7710939 nonsense probably null
R1914:Lats1 UTSW 10 7710457 splice site probably benign
R2137:Lats1 UTSW 10 7701847 missense possibly damaging 0.71
R2317:Lats1 UTSW 10 7691776 nonsense probably null
R3863:Lats1 UTSW 10 7705746 missense probably damaging 1.00
R3864:Lats1 UTSW 10 7705746 missense probably damaging 1.00
R4597:Lats1 UTSW 10 7691746 missense probably benign 0.00
R4657:Lats1 UTSW 10 7705684 missense possibly damaging 0.82
R4658:Lats1 UTSW 10 7702729 missense probably benign
R4663:Lats1 UTSW 10 7712583 missense probably damaging 1.00
R4870:Lats1 UTSW 10 7705785 missense probably damaging 1.00
R5101:Lats1 UTSW 10 7712584 nonsense probably null
R5134:Lats1 UTSW 10 7691811 missense probably benign 0.34
R5150:Lats1 UTSW 10 7712651 missense probably benign
R5546:Lats1 UTSW 10 7705754 missense probably damaging 0.99
R5820:Lats1 UTSW 10 7705908 missense probably damaging 1.00
R6006:Lats1 UTSW 10 7705595 missense probably damaging 1.00
R6301:Lats1 UTSW 10 7703107 missense probably benign 0.01
R6544:Lats1 UTSW 10 7701670 missense possibly damaging 0.94
R6647:Lats1 UTSW 10 7697507 missense possibly damaging 0.81
R6874:Lats1 UTSW 10 7710851 missense probably damaging 1.00
R7328:Lats1 UTSW 10 7705547 missense possibly damaging 0.62
R7390:Lats1 UTSW 10 7702095 nonsense probably null
R7438:Lats1 UTSW 10 7712942 nonsense probably null
R7457:Lats1 UTSW 10 7710891 missense probably damaging 1.00
R7524:Lats1 UTSW 10 7701978 missense possibly damaging 0.89
R7593:Lats1 UTSW 10 7701712 missense probably damaging 1.00
R7736:Lats1 UTSW 10 7702364 missense probably damaging 1.00
R7884:Lats1 UTSW 10 7697526 nonsense probably null
R8166:Lats1 UTSW 10 7702116 missense probably benign
R8248:Lats1 UTSW 10 7705903 missense probably damaging 1.00
R8458:Lats1 UTSW 10 7710924 nonsense probably null
RF021:Lats1 UTSW 10 7710608 missense probably damaging 1.00
X0026:Lats1 UTSW 10 7710623 missense probably damaging 1.00
X0053:Lats1 UTSW 10 7691609 missense probably benign 0.00
Z1176:Lats1 UTSW 10 7705809 missense probably damaging 1.00
Posted On2013-06-28