Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03107:Lats1'

419010

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 #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

7681214-7716460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7712746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1042 (D1042E)

Ref Sequence

ENSEMBL: ENSMUSP00000151533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040043] [ENSMUST00000165952] [ENSMUST00000217931]

AlphaFold

Q8BYR2

Predicted Effect

probably benign
Transcript: ENSMUST00000040043
AA Change: D1042E

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: D1042E

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 benign
Transcript: ENSMUST00000165952
AA Change: D1042E

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: D1042E

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 benign
Transcript: ENSMUST00000217931
AA Change: D1042E

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	A	11: 29,824,360	I366F	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,768		noncoding transcript	Het
Angpt4	A	G	2: 151,943,422	M453V	probably benign	Het
Atr	T	A	9: 95,897,730	D1380E	probably benign	Het
Carmil1	A	T	13: 24,094,455	M177K	probably damaging	Het
Cenpk	T	A	13: 104,242,772	I203N	probably damaging	Het
Cerk	A	T	15: 86,142,813	N165K	probably benign	Het
Col27a1	G	A	4: 63,324,632		probably benign	Het
Crb2	A	T	2: 37,791,416	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,568,305	D91G	probably damaging	Het
Dnajc6	G	T	4: 101,616,860	W486L	probably damaging	Het
Elmod1	C	T	9: 53,934,223		probably benign	Het
Ercc3	G	T	18: 32,248,307	R392L	possibly damaging	Het
Fam135b	C	T	15: 71,463,561	V595I	probably benign	Het
Fermt1	A	T	2: 132,933,139	S256T	probably damaging	Het
Fstl5	G	T	3: 76,536,311	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,303,317	N256T	probably benign	Het
Gpd2	T	A	2: 57,355,569	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,544,590	M43L	probably benign	Het
Itgae	A	G	11: 73,113,601	Q238R	probably damaging	Het
Lcn8	G	A	2: 25,655,365	G156D	probably damaging	Het
Loxl4	A	C	19: 42,605,279	V224G	probably benign	Het
Lrp2	T	A	2: 69,454,833	D3827V	probably damaging	Het
Neb	C	A	2: 52,183,825	R231S	probably benign	Het
Olfr123	G	A	17: 37,795,788	V115I	probably benign	Het
Olfr1458	A	T	19: 13,103,037	M89K	probably benign	Het
Olfr213	T	G	6: 116,540,939	M162R	possibly damaging	Het
Olfr801	A	G	10: 129,669,940	M193T	probably benign	Het
Olfr969	T	G	9: 39,796,179	M268R	probably benign	Het
Pappa	T	G	4: 65,204,703	S758R	probably damaging	Het
Pced1a	G	A	2: 130,422,835	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,200,595	D731G	probably damaging	Het
Plxnb1	G	A	9: 109,104,986	D761N	probably benign	Het
Pmp22	T	C	11: 63,158,309	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,268,545	R296S	probably damaging	Het
Prkcq	A	C	2: 11,260,786	H438P	probably damaging	Het
Ryr1	T	A	7: 29,075,199	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,858,402		probably benign	Het
Scp2	T	A	4: 108,098,115	I144F	probably benign	Het
Secisbp2	T	C	13: 51,652,757		probably null	Het
Sema5a	T	A	15: 32,669,408	Y693N	probably damaging	Het
Sin3b	T	A	8: 72,753,585	I905K	probably damaging	Het
Slc13a3	T	A	2: 165,437,307	M195L	probably benign	Het
Strada	A	G	11: 106,164,037		probably benign	Het
Stx18	G	A	5: 38,136,311	V294M	probably damaging	Het
Tbpl2	A	T	2: 24,093,833	N197K	probably benign	Het
Tdrd9	A	T	12: 112,042,840	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,505,397	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,110,912	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,113,228	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,382,613	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,127,774		probably benign	Het
Unc80	C	A	1: 66,631,454	P1912Q	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
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
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

2016-08-02