Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01019:Lats1'

53837

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 #

IGL01019

Quality Score

Status

Chromosome

Chromosomal Location

7681214-7716460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7705671 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q8BYR2

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

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

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

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
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
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

2013-06-28