Incidental Mutation 'IGL00272:Lats2'
| ID |
11732 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lats2
|
| Ensembl Gene |
ENSMUSG00000021959 |
| Gene Name |
large tumor suppressor 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57929026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 950
(T950A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022531]
[ENSMUST00000173990]
[ENSMUST00000174213]
[ENSMUST00000174694]
|
| AlphaFold |
Q7TSJ6 |
| PDB Structure |
Solution structure of RSGI RUH-038, a UBA domain from Mouse LATS2 (Large Tumor Suppressor homolog 2) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022531
AA Change: T950A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
AA Change: T950A
| 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 benign
Transcript: ENSMUST00000173990
|
| SMART Domains |
Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959
| 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: ENSMUST00000174213
|
| SMART Domains |
Protein: ENSMUSP00000134321
Gene: ENSMUSG00000021959
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
114 |
2e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174694
|
| SMART Domains |
Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
| Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
| Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,668,460 (GRCm39) |
|
probably benign |
Het |
| Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
| Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Map2k2 |
T |
A |
10: 80,956,907 (GRCm39) |
M95K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
| Or9m1b |
A |
G |
2: 87,836,988 (GRCm39) |
S45P |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,409 (GRCm39) |
T91A |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,015,148 (GRCm39) |
|
probably null |
Het |
| Stard10 |
A |
T |
7: 100,971,173 (GRCm39) |
Y47F |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Lats2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1129:Lats2
|
UTSW |
14 |
57,937,790 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation