Incidental Mutation 'R4597:Lats1'
| ID |
344456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats1
|
| Ensembl Gene |
ENSMUSG00000040021 |
| Gene Name |
large tumor suppressor |
| Synonyms |
|
| MMRRC Submission |
041813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.822)
|
| Stock # |
R4597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7567510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 94
(S94P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
| AlphaFold |
Q8BYR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040043
AA Change: S94P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: S94P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
101 |
138 |
7.4e-11 |
PFAM |
|
low complexity region
|
228 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
559 |
N/A |
INTRINSIC |
|
S_TKc
|
704 |
1009 |
7.3e-99 |
SMART |
|
S_TK_X
|
1010 |
1081 |
1.2e-2 |
SMART |
|
low complexity region
|
1102 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165952
AA Change: S94P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: S94P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
101 |
138 |
7.4e-11 |
PFAM |
|
low complexity region
|
228 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
559 |
N/A |
INTRINSIC |
|
S_TKc
|
704 |
1009 |
7.3e-99 |
SMART |
|
S_TK_X
|
1010 |
1081 |
1.2e-2 |
SMART |
|
low complexity region
|
1102 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217931
AA Change: S94P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. Two protein-coding transcripts and one non-protein coding transcript have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
T |
A |
2: 103,856,500 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,214 (GRCm39) |
M229K |
possibly damaging |
Het |
| Adh5 |
T |
C |
3: 138,151,118 (GRCm39) |
V27A |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,800 (GRCm39) |
D843E |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,268,737 (GRCm39) |
N950S |
probably damaging |
Het |
| Arl1 |
A |
T |
10: 88,566,608 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
T |
G |
7: 19,546,428 (GRCm39) |
I136L |
probably damaging |
Het |
| Car9 |
T |
A |
4: 43,509,138 (GRCm39) |
S235R |
probably damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,451 (GRCm39) |
G30W |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,348,941 (GRCm39) |
T101I |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,244,823 (GRCm39) |
L1026P |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,060,806 (GRCm39) |
Y186F |
probably damaging |
Het |
| Col22a1 |
G |
T |
15: 71,836,511 (GRCm39) |
A508E |
possibly damaging |
Het |
| Crocc |
G |
C |
4: 140,747,088 (GRCm39) |
S1573R |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,191 (GRCm39) |
T231K |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,767,955 (GRCm39) |
E1116G |
possibly damaging |
Het |
| Fam83d |
T |
C |
2: 158,627,142 (GRCm39) |
V277A |
possibly damaging |
Het |
| Fga |
G |
T |
3: 82,938,542 (GRCm39) |
G306* |
probably null |
Het |
| Fkbp9 |
A |
G |
6: 56,809,367 (GRCm39) |
Y59C |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,274,441 (GRCm39) |
T450A |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,367,791 (GRCm39) |
M414V |
possibly damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,572 (GRCm39) |
F112L |
unknown |
Het |
| Gm27047 |
T |
C |
6: 130,607,299 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4353 |
T |
A |
7: 115,682,847 (GRCm39) |
K245* |
probably null |
Het |
| Gm4950 |
A |
T |
18: 51,998,865 (GRCm39) |
I30N |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,681 (GRCm39) |
V15E |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,596,285 (GRCm39) |
T187A |
probably benign |
Het |
| H60c |
A |
T |
10: 3,209,968 (GRCm39) |
N106K |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,185,387 (GRCm39) |
|
probably null |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,276 (GRCm39) |
C115R |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,801,217 (GRCm39) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,672,582 (GRCm39) |
Y199H |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,312,257 (GRCm39) |
R554C |
probably damaging |
Het |
| Kcnc3 |
T |
A |
7: 44,245,240 (GRCm39) |
M510K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,358 (GRCm39) |
S1485C |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,207,421 (GRCm39) |
G313W |
probably damaging |
Het |
| Klhl32 |
C |
T |
4: 24,629,339 (GRCm39) |
S476N |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,756,063 (GRCm39) |
E386K |
possibly damaging |
Het |
| Ltf |
G |
A |
9: 110,852,001 (GRCm39) |
C146Y |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,136,322 (GRCm39) |
L501P |
probably damaging |
Het |
| Myh2 |
A |
C |
11: 67,080,244 (GRCm39) |
I1153L |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,895,823 (GRCm39) |
Y522* |
probably null |
Het |
| Nipal4 |
A |
G |
11: 46,042,156 (GRCm39) |
V175A |
probably damaging |
Het |
| Or7e169 |
T |
C |
9: 19,756,987 (GRCm39) |
I309M |
probably benign |
Het |
| Pcdha1 |
C |
G |
18: 37,064,959 (GRCm39) |
A541G |
possibly damaging |
Het |
| Pex11g |
A |
G |
8: 3,514,043 (GRCm39) |
Y40H |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,154 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Qrfprl |
T |
C |
6: 65,424,408 (GRCm39) |
|
probably null |
Het |
| Rin2 |
G |
T |
2: 145,702,825 (GRCm39) |
R507L |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,260,616 (GRCm39) |
D200G |
probably damaging |
Het |
| Smg7 |
C |
A |
1: 152,716,052 (GRCm39) |
|
probably null |
Het |
| Snx17 |
T |
C |
5: 31,355,857 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,741,255 (GRCm39) |
Y510C |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,427 (GRCm39) |
L323* |
probably null |
Het |
| Supt16 |
C |
T |
14: 52,411,046 (GRCm39) |
G686D |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,229,878 (GRCm39) |
R2751H |
unknown |
Het |
| Tnfsf8 |
A |
G |
4: 63,755,337 (GRCm39) |
L95P |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,428 (GRCm39) |
H493R |
probably benign |
Het |
| Zfp770 |
C |
T |
2: 114,027,251 (GRCm39) |
A273T |
possibly damaging |
Het |
|
| Other mutations in Lats1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Lats1
|
APN |
10 |
7,567,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00595:Lats1
|
APN |
10 |
7,578,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00932:Lats1
|
APN |
10 |
7,588,506 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01019:Lats1
|
APN |
10 |
7,581,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Lats1
|
APN |
10 |
7,567,544 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01965:Lats1
|
APN |
10 |
7,577,470 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02027:Lats1
|
APN |
10 |
7,588,712 (GRCm39) |
missense |
probably benign |
|
|
IGL02611:Lats1
|
APN |
10 |
7,581,551 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02997:Lats1
|
APN |
10 |
7,578,018 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03107:Lats1
|
APN |
10 |
7,588,510 (GRCm39) |
missense |
probably benign |
0.15 |
|
I1329:Lats1
|
UTSW |
10 |
7,588,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
PIT4378001:Lats1
|
UTSW |
10 |
7,581,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Lats1
|
UTSW |
10 |
7,567,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Lats1
|
UTSW |
10 |
7,588,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0581:Lats1
|
UTSW |
10 |
7,578,705 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0604:Lats1
|
UTSW |
10 |
7,588,425 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1681:Lats1
|
UTSW |
10 |
7,581,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1694:Lats1
|
UTSW |
10 |
7,577,709 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1840:Lats1
|
UTSW |
10 |
7,586,703 (GRCm39) |
nonsense |
probably null |
|
|
R1914:Lats1
|
UTSW |
10 |
7,586,221 (GRCm39) |
splice site |
probably benign |
|
|
R2137:Lats1
|
UTSW |
10 |
7,577,611 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2317:Lats1
|
UTSW |
10 |
7,567,540 (GRCm39) |
nonsense |
probably null |
|
|
R3863:Lats1
|
UTSW |
10 |
7,581,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3864:Lats1
|
UTSW |
10 |
7,581,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Lats1
|
UTSW |
10 |
7,581,448 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4658:Lats1
|
UTSW |
10 |
7,578,493 (GRCm39) |
missense |
probably benign |
|
|
R4663:Lats1
|
UTSW |
10 |
7,588,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Lats1
|
UTSW |
10 |
7,581,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Lats1
|
UTSW |
10 |
7,588,348 (GRCm39) |
nonsense |
probably null |
|
|
R5134:Lats1
|
UTSW |
10 |
7,567,575 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5150:Lats1
|
UTSW |
10 |
7,588,415 (GRCm39) |
missense |
probably benign |
|
|
R5546:Lats1
|
UTSW |
10 |
7,581,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5820:Lats1
|
UTSW |
10 |
7,581,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Lats1
|
UTSW |
10 |
7,581,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Lats1
|
UTSW |
10 |
7,578,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6544:Lats1
|
UTSW |
10 |
7,577,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6647:Lats1
|
UTSW |
10 |
7,573,271 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6874:Lats1
|
UTSW |
10 |
7,586,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Lats1
|
UTSW |
10 |
7,581,311 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7390:Lats1
|
UTSW |
10 |
7,577,859 (GRCm39) |
nonsense |
probably null |
|
|
R7438:Lats1
|
UTSW |
10 |
7,588,706 (GRCm39) |
nonsense |
probably null |
|
|
R7457:Lats1
|
UTSW |
10 |
7,586,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Lats1
|
UTSW |
10 |
7,577,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7593:Lats1
|
UTSW |
10 |
7,577,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Lats1
|
UTSW |
10 |
7,578,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Lats1
|
UTSW |
10 |
7,573,290 (GRCm39) |
nonsense |
probably null |
|
|
R8166:Lats1
|
UTSW |
10 |
7,577,880 (GRCm39) |
missense |
probably benign |
|
|
R8248:Lats1
|
UTSW |
10 |
7,581,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Lats1
|
UTSW |
10 |
7,586,688 (GRCm39) |
nonsense |
probably null |
|
|
R8477:Lats1
|
UTSW |
10 |
7,581,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8547:Lats1
|
UTSW |
10 |
7,588,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Lats1
|
UTSW |
10 |
7,578,052 (GRCm39) |
missense |
probably benign |
|
|
R9441:Lats1
|
UTSW |
10 |
7,578,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9673:Lats1
|
UTSW |
10 |
7,588,387 (GRCm39) |
missense |
probably benign |
0.29 |
|
RF021:Lats1
|
UTSW |
10 |
7,586,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Lats1
|
UTSW |
10 |
7,586,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Lats1
|
UTSW |
10 |
7,567,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Lats1
|
UTSW |
10 |
7,581,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCTTTCCTGCCAGCAAC -3'
(R):5'- TATGAGCTCCCCTTGAACTTG -3'
Sequencing Primer
(F):5'- CTGCAGGAGATCCGAGAATCC -3'
(R):5'- GAACTTGTTTGCCTCACAGAATAAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation