Incidental Mutation 'IGL01380:Lats1'
ID78804
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? Possibly essential (E-score: 0.601) question?
Stock #IGL01380
Quality Score
Status
Chromosome10
Chromosomal Location7681214-7716460 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 7691780 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 105 (M105K)
Ref Sequence ENSEMBL: ENSMUSP00000151533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040043] [ENSMUST00000165952] [ENSMUST00000217931]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040043
AA Change: M105K

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: M105K

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 possibly damaging
Transcript: ENSMUST00000165952
AA Change: M105K

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: M105K

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 possibly damaging
Transcript: ENSMUST00000217931
AA Change: M105K

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,022 V352L possibly damaging Het
Ankrd44 A T 1: 54,727,565 M488K probably benign Het
Ano8 A G 8: 71,480,809 probably benign Het
Atp2a1 T A 7: 126,448,770 M623L possibly damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Btla A C 16: 45,250,353 D225A probably benign Het
C030048H21Rik G A 2: 26,256,647 Q1218* probably null Het
C130079G13Rik A G 3: 59,932,632 T42A probably benign Het
Cacna1a A G 8: 84,559,117 Y750C probably damaging Het
Ccdc15 A T 9: 37,276,557 probably benign Het
Ccdc18 T A 5: 108,180,887 I724N probably damaging Het
Cluh T A 11: 74,665,946 F937L probably benign Het
Clybl G T 14: 122,379,349 A259S probably benign Het
Cyp4f39 T G 17: 32,481,858 I167S probably damaging Het
Dchs1 T A 7: 105,762,211 D1566V probably damaging Het
Dnah3 C T 7: 119,926,564 A3867T probably damaging Het
Dtwd1 T A 2: 126,159,927 L189Q probably benign Het
Dusp10 T C 1: 184,069,014 I326T possibly damaging Het
Eaf1 T A 14: 31,497,810 probably benign Het
Eif3c C T 7: 126,564,413 probably benign Het
Fam169a C T 13: 97,091,951 T44M probably damaging Het
Fam184a T C 10: 53,694,686 probably benign Het
Fam25c C T 14: 34,353,698 A46T probably null Het
Gckr A G 5: 31,299,633 probably benign Het
Gfra2 G T 14: 70,967,146 probably benign Het
Gm8237 A T 14: 5,863,703 probably null Het
H2-Eb2 G T 17: 34,335,809 L228F probably benign Het
Igf2r T C 17: 12,695,374 N1736S probably benign Het
Izumo1 T G 7: 45,627,095 S361A probably benign Het
Klri1 T C 6: 129,698,798 I170V probably benign Het
L3mbtl2 C T 15: 81,671,125 A193V possibly damaging Het
Lrpprc T C 17: 84,722,730 D1080G probably benign Het
Lrrc74a A T 12: 86,761,722 M425L possibly damaging Het
Mfsd13a G T 19: 46,367,908 D151Y probably damaging Het
Mst1 G A 9: 108,084,588 E640K probably damaging Het
Napsa T C 7: 44,586,674 V379A probably damaging Het
Olfr1 A T 11: 73,395,191 M277K probably damaging Het
Olfr371 A T 8: 85,231,329 Y278F possibly damaging Het
Olfr371 C A 8: 85,231,146 S217Y probably damaging Het
Olfr544 C T 7: 102,484,385 C245Y probably damaging Het
Otop3 T C 11: 115,346,411 V567A probably damaging Het
Oxsr1 A T 9: 119,260,101 probably benign Het
Pak2 A T 16: 32,041,544 V167E probably benign Het
Pcdhb16 A G 18: 37,479,445 H486R probably benign Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rbm6 T C 9: 107,788,349 D616G probably damaging Het
Sf3b1 T C 1: 54,987,949 Y1249C probably damaging Het
Sipa1l3 T C 7: 29,331,372 H534R possibly damaging Het
Slco1c1 T C 6: 141,540,051 Y136H probably damaging Het
Smarca4 A G 9: 21,679,073 M1333V probably benign Het
Smc4 A G 3: 69,025,828 D54G probably damaging Het
Spag5 T A 11: 78,304,617 V250E possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Suv39h2 T A 2: 3,464,259 probably benign Het
Taar8b T A 10: 24,092,107 H63L probably damaging Het
Tex2 G A 11: 106,544,315 Q264* probably null Het
Thnsl2 A C 6: 71,138,756 S156A probably benign Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Usp25 T C 16: 77,093,678 L758P probably benign Het
Zfyve1 G A 12: 83,552,507 R144C probably damaging Het
Zpld1 A G 16: 55,251,770 V42A 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
IGL01019:Lats1 APN 10 7705671 missense probably damaging 1.00
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
R7967:Lats1 UTSW 10 7697526 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 On2013-11-05