Incidental Mutation 'R1129:Lats2'
ID |
96507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats2
|
Ensembl Gene |
ENSMUSG00000021959 |
Gene Name |
large tumor suppressor 2 |
Synonyms |
|
MMRRC Submission |
039202-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1129 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57937790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 233
(E233G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022531]
[ENSMUST00000173964]
[ENSMUST00000173990]
[ENSMUST00000174166]
[ENSMUST00000174213]
[ENSMUST00000174694]
|
AlphaFold |
Q7TSJ6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022531
AA Change: E233G
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000022531 Gene: ENSMUSG00000021959 AA Change: E233G
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 |
noncoding transcript
Transcript: ENSMUST00000082591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172474
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173964
|
SMART Domains |
Protein: ENSMUSP00000134142 Gene: ENSMUSG00000021959
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
28 |
N/A |
INTRINSIC |
low complexity region
|
57 |
64 |
N/A |
INTRINSIC |
low complexity region
|
91 |
102 |
N/A |
INTRINSIC |
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
233 |
288 |
2.3e-5 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173990
AA Change: E233G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133976 Gene: ENSMUSG00000021959 AA Change: E233G
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 benign
Transcript: ENSMUST00000174166
|
SMART Domains |
Protein: ENSMUSP00000133379 Gene: ENSMUSG00000021959
Domain | Start | End | E-Value | Type |
PDB:2COS|A
|
91 |
114 |
5e-7 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174213
|
SMART Domains |
Protein: ENSMUSP00000134321 Gene: ENSMUSG00000021959
Domain | Start | End | E-Value | Type |
PDB:2COS|A
|
91 |
114 |
2e-6 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174694
AA Change: E233G
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133680 Gene: ENSMUSG00000114942 AA Change: E233G
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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrm1 |
G |
C |
2: 179,814,712 (GRCm39) |
|
probably benign |
Het |
Bub1b |
A |
T |
2: 118,445,487 (GRCm39) |
D269V |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,535 (GRCm39) |
N828S |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,136,201 (GRCm39) |
S1152P |
unknown |
Het |
Cnnm3 |
T |
C |
1: 36,552,097 (GRCm39) |
L369P |
probably damaging |
Het |
Cxadr |
A |
G |
16: 78,133,321 (GRCm39) |
K360R |
probably benign |
Het |
Dlg2 |
G |
A |
7: 92,080,382 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,238,635 (GRCm39) |
V3779A |
probably benign |
Het |
Fbxo16 |
G |
A |
14: 65,532,981 (GRCm39) |
R161K |
probably benign |
Het |
Gm9726 |
T |
A |
12: 93,895,300 (GRCm39) |
|
noncoding transcript |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,448,662 (GRCm39) |
T337A |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,744,226 (GRCm39) |
L1510S |
probably benign |
Het |
Kansl2 |
T |
C |
15: 98,431,462 (GRCm39) |
Y63C |
probably damaging |
Het |
Naca |
T |
C |
10: 127,876,071 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,052,245 (GRCm39) |
A591S |
probably benign |
Het |
Sbsn |
C |
T |
7: 30,452,865 (GRCm39) |
P627S |
probably benign |
Het |
Sema6b |
T |
C |
17: 56,431,347 (GRCm39) |
E772G |
probably benign |
Het |
Tmem33 |
A |
G |
5: 67,421,803 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
A |
G |
14: 123,180,565 (GRCm39) |
|
probably null |
Het |
Ubqlnl |
A |
T |
7: 103,798,857 (GRCm39) |
H213Q |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,331 (GRCm39) |
M43T |
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,886,712 (GRCm39) |
|
probably null |
Het |
Zcchc14 |
A |
G |
8: 122,335,154 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lats2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Lats2
|
APN |
14 |
57,929,026 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02104:Lats2
|
APN |
14 |
57,971,469 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02173:Lats2
|
APN |
14 |
57,934,717 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02377:Lats2
|
APN |
14 |
57,929,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02995:Lats2
|
APN |
14 |
57,937,805 (GRCm39) |
missense |
probably damaging |
1.00 |
Morpheus
|
UTSW |
14 |
57,933,591 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Lats2
|
UTSW |
14 |
57,936,814 (GRCm39) |
nonsense |
probably null |
|
R0653:Lats2
|
UTSW |
14 |
57,937,653 (GRCm39) |
nonsense |
probably null |
|
R0780:Lats2
|
UTSW |
14 |
57,928,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Lats2
|
UTSW |
14 |
57,934,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Lats2
|
UTSW |
14 |
57,934,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Lats2
|
UTSW |
14 |
57,929,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R3498:Lats2
|
UTSW |
14 |
57,959,923 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3692:Lats2
|
UTSW |
14 |
57,928,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:Lats2
|
UTSW |
14 |
57,933,712 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4357:Lats2
|
UTSW |
14 |
57,936,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Lats2
|
UTSW |
14 |
57,937,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:Lats2
|
UTSW |
14 |
57,928,810 (GRCm39) |
missense |
probably benign |
0.10 |
R5477:Lats2
|
UTSW |
14 |
57,937,010 (GRCm39) |
missense |
probably benign |
0.00 |
R5729:Lats2
|
UTSW |
14 |
57,960,192 (GRCm39) |
missense |
probably benign |
0.04 |
R5802:Lats2
|
UTSW |
14 |
57,931,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R5931:Lats2
|
UTSW |
14 |
57,933,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R6016:Lats2
|
UTSW |
14 |
57,971,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Lats2
|
UTSW |
14 |
57,959,966 (GRCm39) |
missense |
probably benign |
0.00 |
R6624:Lats2
|
UTSW |
14 |
57,931,769 (GRCm39) |
critical splice donor site |
probably null |
|
R6638:Lats2
|
UTSW |
14 |
57,936,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R6846:Lats2
|
UTSW |
14 |
57,933,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R7198:Lats2
|
UTSW |
14 |
57,934,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Lats2
|
UTSW |
14 |
57,960,151 (GRCm39) |
splice site |
probably null |
|
R7883:Lats2
|
UTSW |
14 |
57,934,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8081:Lats2
|
UTSW |
14 |
57,937,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Lats2
|
UTSW |
14 |
57,934,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R8508:Lats2
|
UTSW |
14 |
57,960,162 (GRCm39) |
missense |
probably benign |
0.08 |
R8536:Lats2
|
UTSW |
14 |
57,940,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R8767:Lats2
|
UTSW |
14 |
57,931,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Lats2
|
UTSW |
14 |
57,937,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Lats2
|
UTSW |
14 |
57,936,875 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCGCCAGTAAACGTGGGACC -3'
(R):5'- GCTACTCTGGGAATCAACCTGCAAG -3'
Sequencing Primer
(F):5'- GGTGCCCAACACATGTAATG -3'
(R):5'- ACCATGTGCTCTGAGGCTG -3'
|
Posted On |
2014-01-05 |