Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02027:Lats1'

184200

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 #

IGL02027

Quality Score

Status

Chromosome

Chromosomal Location

7681214-7716460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7712948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1110 (S1110P)

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: S1110P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: S1110P

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: S1110P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: S1110P

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: S1110P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	A	G	1: 134,431,185	T312A	probably benign	Het
Begain	T	G	12: 109,034,309	K384Q	possibly damaging	Het
C2cd6	T	C	1: 59,060,604	I393V	probably benign	Het
Catsperz	A	G	19: 6,925,296	V5A	probably benign	Het
Cbx1	T	A	11: 96,801,489	F67L	probably damaging	Het
Cerkl	T	C	2: 79,341,286		probably benign	Het
Ctgf	A	G	10: 24,596,409	S117G	probably damaging	Het
Cubn	G	T	2: 13,287,594	D3259E	probably damaging	Het
Cyp2u1	A	G	3: 131,297,951	Y307H	probably damaging	Het
Dcaf6	A	C	1: 165,424,341	D71E	probably damaging	Het
Dclk3	A	T	9: 111,467,843	K152*	probably null	Het
Fcgbp	G	A	7: 28,075,204	D68N	probably damaging	Het
Gm6576	A	G	15: 27,025,866		noncoding transcript	Het
Has2	T	C	15: 56,668,171	T383A	probably damaging	Het
Htr1f	T	A	16: 64,926,321	K203*	probably null	Het
Il1f9	A	T	2: 24,192,785	I191L	probably benign	Het
Iqgap3	T	C	3: 88,087,342	I116T	possibly damaging	Het
Itga1	C	T	13: 114,990,055		probably null	Het
Kif5b	T	C	18: 6,209,089	D891G	possibly damaging	Het
Krt74	T	C	15: 101,756,794		noncoding transcript	Het
Lama3	A	G	18: 12,516,513	K1776E	probably damaging	Het
Lipo3	T	A	19: 33,580,519	K158*	probably null	Het
Lrrc9	T	A	12: 72,470,334		probably benign	Het
Met	A	G	6: 17,563,727		probably benign	Het
Mmp13	A	G	9: 7,272,955	Y105C	probably damaging	Het
Mtus1	T	C	8: 40,993,601	E1151G	probably damaging	Het
Nov	T	C	15: 54,747,934	V155A	probably damaging	Het
Nptx1	T	C	11: 119,544,596	D298G	possibly damaging	Het
Pdlim1	T	C	19: 40,243,466	N156S	probably benign	Het
Pdzk1	A	G	3: 96,854,673		probably benign	Het
Pex5	A	G	6: 124,398,888	S448P	probably benign	Het
Polr3e	G	T	7: 120,930,963	R124L	probably damaging	Het
Ppp2r2c	C	T	5: 36,952,472	R392C	probably damaging	Het
Prpf4b	T	C	13: 34,889,571	I543T	probably benign	Het
Prr27	A	G	5: 87,843,443	S305G	possibly damaging	Het
Repin1	A	G	6: 48,596,473	H56R	probably damaging	Het
Ryr2	A	T	13: 11,597,112	L408H	probably damaging	Het
Sbf2	T	A	7: 110,461,141	Q205H	probably damaging	Het
Sgo2b	G	A	8: 63,926,829	P990S	probably benign	Het
Slc33a1	G	T	3: 63,948,141	P361Q	probably damaging	Het
Tmem98	T	C	11: 80,815,657		probably benign	Het
Ttc25	C	T	11: 100,569,902	T495M	probably damaging	Het
Vmn1r16	T	C	6: 57,323,059	T193A	possibly damaging	Het
Vmn1r5	T	A	6: 56,985,655	I105K	probably damaging	Het
Zfp473	A	T	7: 44,738,038		probably benign	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
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

2014-05-07