Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Lats1'

78804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lats1

Ensembl Gene

ENSMUSG00000040021

Gene Name

large tumor suppressor

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

7681214-7716460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7691780 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q8BYR2

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8477:Lats1	UTSW	10	7705515	missense	probably damaging	1.00
R8547:Lats1	UTSW	10	7712849	missense	probably damaging	1.00
R9163:Lats1	UTSW	10	7702288	missense	probably benign
R9441:Lats1	UTSW	10	7702917	missense	probably damaging	0.96
R9673:Lats1	UTSW	10	7712623	missense	probably benign	0.29
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 On

2013-11-05