Incidental Mutation 'R3498:Lats2'
| ID |
473749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats2
|
| Ensembl Gene |
ENSMUSG00000021959 |
| Gene Name |
large tumor suppressor 2 |
| Synonyms |
|
| MMRRC Submission |
040661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3498 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57959923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 191
(A191E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022531]
[ENSMUST00000038381]
[ENSMUST00000077981]
[ENSMUST00000173990]
[ENSMUST00000174166]
[ENSMUST00000174213]
[ENSMUST00000174694]
|
| AlphaFold |
Q7TSJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022531
|
| SMART Domains |
Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
| 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 |
possibly damaging
Transcript: ENSMUST00000038381
AA Change: A191E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000077981
AA Change: A142E
|
| 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: 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 |
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
| Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
| Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
| Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation