Incidental Mutation 'R6846:Lats2'
| ID |
534781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats2
|
| Ensembl Gene |
ENSMUSG00000021959 |
| Gene Name |
large tumor suppressor 2 |
| Synonyms |
|
| MMRRC Submission |
044952-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57933591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 842
(V842A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022531]
[ENSMUST00000173964]
[ENSMUST00000173990]
[ENSMUST00000174213]
[ENSMUST00000174694]
|
| AlphaFold |
Q7TSJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022531
AA Change: V842A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
AA Change: V842A
| 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: 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 |
probably damaging
Transcript: ENSMUST00000173990
AA Change: V842A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959
AA Change: V842A
| 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 damaging
Transcript: ENSMUST00000174694
AA Change: V842A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
AA Change: V842A
| 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 |
|
| Meta Mutation Damage Score |
0.2502 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,221 (GRCm39) |
N3502D |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,609,574 (GRCm39) |
I94K |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,179 (GRCm39) |
H227R |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,006,446 (GRCm39) |
P650Q |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,162,422 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,010,025 (GRCm39) |
E408G |
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Dgkd |
T |
G |
1: 87,853,413 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,401 (GRCm39) |
L163Q |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,814,081 (GRCm39) |
C1342R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,919 (GRCm39) |
L550Q |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,114,633 (GRCm39) |
E1019G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,635,091 (GRCm39) |
L601P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 9,763,762 (GRCm38) |
R172L |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,523 (GRCm39) |
H174R |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,520,561 (GRCm39) |
F367L |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,251,930 (GRCm39) |
I102T |
unknown |
Het |
| Iws1 |
T |
C |
18: 32,219,326 (GRCm39) |
|
probably benign |
Het |
| Limd2 |
C |
T |
11: 106,050,213 (GRCm39) |
M1I |
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,348,787 (GRCm39) |
Q728L |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,606,707 (GRCm39) |
T400S |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,898 (GRCm39) |
D623G |
probably damaging |
Het |
| Myocos |
T |
C |
1: 162,484,665 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
T |
8: 67,943,995 (GRCm39) |
A124S |
probably benign |
Het |
| Nfya |
A |
T |
17: 48,702,715 (GRCm39) |
M62K |
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,490,506 (GRCm39) |
V378A |
probably damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,265 (GRCm39) |
I175N |
possibly damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,861 (GRCm39) |
N5K |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,269,234 (GRCm39) |
S463G |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,661 (GRCm39) |
T390A |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,372 (GRCm39) |
M411T |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,886 (GRCm39) |
F11L |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,854,956 (GRCm39) |
F85L |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,689,479 (GRCm39) |
W214R |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,773 (GRCm39) |
K1411R |
probably benign |
Het |
| Tmem176a |
G |
T |
6: 48,820,759 (GRCm39) |
R116L |
probably damaging |
Het |
| Trim71 |
G |
T |
9: 114,354,115 (GRCm39) |
H296Q |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,180,840 (GRCm39) |
I35L |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,620 (GRCm39) |
T47A |
probably benign |
Het |
| Zscan10 |
A |
T |
17: 23,824,581 (GRCm39) |
Q12H |
probably damaging |
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 |
|
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 |
|
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'- TAATCCTGGTGAAGCAAAGGCC -3'
(R):5'- GCTTCGCTTCAGTGTTGAATTC -3'
Sequencing Primer
(F):5'- CTGGTGAAGCAAAGGCCATTCC -3'
(R):5'- GCTTCAGTGTTGAATTCATGCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation