Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02104:Lats2'

279884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lats2

Ensembl Gene

ENSMUSG00000021959

Gene Name

large tumor suppressor 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

57689662-57758388 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57734012 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 69 (F69L)

Ref Sequence

ENSEMBL: ENSMUSP00000134321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022531] [ENSMUST00000038381] [ENSMUST00000077981] [ENSMUST00000173732] [ENSMUST00000173990] [ENSMUST00000174166] [ENSMUST00000174213] [ENSMUST00000174694]

AlphaFold

Q7TSJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022531
AA Change: F69L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
AA Change: F69L

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	3e-20	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
S_TKc	626	931	2.94e-94	SMART
S_TK_X	932	1002	1.21e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000038381
AA Change: F69L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000077981
AA Change: F69L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173077

Predicted Effect

probably benign
Transcript: ENSMUST00000173732

Predicted Effect

probably damaging
Transcript: ENSMUST00000173990
AA Change: F69L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959
AA Change: F69L

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	8e-22	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
S_TKc	626	893	7.75e-71	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174166
AA Change: F69L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133379
Gene: ENSMUSG00000021959
AA Change: F69L

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	114	5e-7	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000174213
AA Change: F69L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134321
Gene: ENSMUSG00000021959
AA Change: F69L

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	114	2e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000174694
AA Change: F69L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
AA Change: F69L

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	7e-22	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
Pfam:Pkinase	626	792	2.2e-38	PFAM
Pfam:Pkinase_Tyr	626	795	2.8e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with decreased cell proliferation, chromosomal instability, atrial hyperplasia, ventricular hypoplasia, delayed embryonic development, an irregular kinked neural tube, and hemorrhages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in Lats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Lats2	APN	14	57691569	missense	probably benign	0.09
IGL02173:Lats2	APN	14	57697260	missense	probably damaging	1.00
IGL02377:Lats2	APN	14	57691595	missense	probably damaging	1.00
IGL02995:Lats2	APN	14	57700348	missense	probably damaging	1.00
R6846_Lats2_781	UTSW	14	57696134	missense	probably damaging	1.00
PIT4472001:Lats2	UTSW	14	57699357	nonsense	probably null
R0653:Lats2	UTSW	14	57700196	nonsense	probably null
R0780:Lats2	UTSW	14	57691296	missense	probably damaging	1.00
R1129:Lats2	UTSW	14	57700333	missense	possibly damaging	0.71
R1851:Lats2	UTSW	14	57697455	missense	probably damaging	1.00
R1882:Lats2	UTSW	14	57697354	missense	probably damaging	1.00
R2184:Lats2	UTSW	14	57691559	missense	probably damaging	0.99
R3498:Lats2	UTSW	14	57722466	missense	possibly damaging	0.95
R3692:Lats2	UTSW	14	57691541	missense	probably damaging	1.00
R4212:Lats2	UTSW	14	57696255	missense	possibly damaging	0.82
R4357:Lats2	UTSW	14	57699383	missense	probably damaging	1.00
R4962:Lats2	UTSW	14	57699592	missense	probably damaging	1.00
R5394:Lats2	UTSW	14	57691353	missense	probably benign	0.10
R5477:Lats2	UTSW	14	57699553	missense	probably benign	0.00
R5729:Lats2	UTSW	14	57722735	missense	probably benign	0.04
R5802:Lats2	UTSW	14	57694418	missense	probably damaging	0.99
R5931:Lats2	UTSW	14	57696131	missense	probably damaging	1.00
R6016:Lats2	UTSW	14	57734175	missense	probably damaging	1.00
R6376:Lats2	UTSW	14	57722509	missense	probably benign	0.00
R6624:Lats2	UTSW	14	57694312	critical splice donor site	probably null
R6638:Lats2	UTSW	14	57699365	missense	probably damaging	1.00
R6846:Lats2	UTSW	14	57696134	missense	probably damaging	1.00
R7198:Lats2	UTSW	14	57697125	missense	probably damaging	1.00
R7233:Lats2	UTSW	14	57722694	splice site	probably null
R7883:Lats2	UTSW	14	57697200	missense	probably damaging	1.00
R8081:Lats2	UTSW	14	57700511	missense	probably damaging	1.00
R8356:Lats2	UTSW	14	57697410	missense	probably damaging	1.00
R8508:Lats2	UTSW	14	57722705	missense	probably benign	0.08
R8536:Lats2	UTSW	14	57703038	missense	probably damaging	1.00
R8767:Lats2	UTSW	14	57694324	missense	probably damaging	1.00

Posted On

2015-04-16