Incidental Mutation 'R4658:Lats1'
ID |
352608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
MMRRC Submission |
041918-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R4658 (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 7578493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 539
(V539A)
|
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: V539A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: V539A
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: V539A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: V539A
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: V539A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0584 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
99% (88/89) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,338,625 (GRCm39) |
R778S |
probably damaging |
Het |
Adam17 |
A |
G |
12: 21,382,161 (GRCm39) |
C567R |
probably damaging |
Het |
Ankrd28 |
G |
A |
14: 31,432,825 (GRCm39) |
A758V |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,775,349 (GRCm39) |
Y151H |
probably damaging |
Het |
B3gat3 |
A |
G |
19: 8,902,996 (GRCm39) |
T118A |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,228,367 (GRCm39) |
C822R |
probably damaging |
Het |
Capn15 |
G |
T |
17: 26,179,742 (GRCm39) |
Q807K |
probably benign |
Het |
Clec12a |
T |
C |
6: 129,331,493 (GRCm39) |
Y145H |
probably damaging |
Het |
Clk1 |
T |
C |
1: 58,452,146 (GRCm39) |
I393V |
probably benign |
Het |
Cpm |
A |
G |
10: 117,503,956 (GRCm39) |
I121V |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,279,448 (GRCm39) |
I405T |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,549,874 (GRCm39) |
S3471P |
probably damaging |
Het |
Dok6 |
A |
G |
18: 89,491,971 (GRCm39) |
|
probably benign |
Het |
Eif4g1 |
A |
T |
16: 20,504,684 (GRCm39) |
D1124V |
possibly damaging |
Het |
Eif4g3 |
A |
G |
4: 137,933,443 (GRCm39) |
E1756G |
probably damaging |
Het |
Exo5 |
A |
G |
4: 120,779,748 (GRCm39) |
V39A |
probably benign |
Het |
Fmnl1 |
A |
T |
11: 103,088,520 (GRCm39) |
I90F |
probably damaging |
Het |
Fryl |
G |
T |
5: 73,238,396 (GRCm39) |
T1450K |
probably damaging |
Het |
Gde1 |
T |
C |
7: 118,293,751 (GRCm39) |
M91V |
probably benign |
Het |
Gimd1 |
T |
C |
3: 132,350,343 (GRCm39) |
I84T |
probably damaging |
Het |
Gm13889 |
C |
T |
2: 93,787,453 (GRCm39) |
|
probably benign |
Het |
Gm6445 |
T |
A |
19: 9,585,561 (GRCm39) |
|
noncoding transcript |
Het |
Gm8113 |
T |
C |
14: 44,169,867 (GRCm39) |
S483P |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,399,888 (GRCm39) |
I281V |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,760,152 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
T |
9: 66,386,773 (GRCm39) |
I3796F |
possibly damaging |
Het |
Hoxb13 |
A |
T |
11: 96,085,309 (GRCm39) |
D14V |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,261,041 (GRCm39) |
Y1645C |
probably damaging |
Het |
Igkv8-16 |
G |
T |
6: 70,363,762 (GRCm39) |
R87S |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,760,054 (GRCm39) |
V140E |
possibly damaging |
Het |
Kbtbd11 |
C |
A |
8: 15,078,917 (GRCm39) |
D505E |
possibly damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,583 (GRCm39) |
C300Y |
probably damaging |
Het |
Kmt2d |
G |
C |
15: 98,750,410 (GRCm39) |
|
probably benign |
Het |
Lipo5 |
C |
T |
19: 33,441,922 (GRCm39) |
G200D |
unknown |
Het |
Lmo7 |
C |
A |
14: 102,124,393 (GRCm39) |
A284D |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mcpt8 |
T |
C |
14: 56,321,285 (GRCm39) |
M60V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,730,749 (GRCm39) |
|
probably null |
Het |
Mphosph10 |
A |
G |
7: 64,038,722 (GRCm39) |
|
probably null |
Het |
Muc5b |
G |
A |
7: 141,395,135 (GRCm39) |
S47N |
unknown |
Het |
Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
Nr1d1 |
G |
A |
11: 98,662,738 (GRCm39) |
S85L |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,945,114 (GRCm39) |
R4635* |
probably null |
Het |
Or10al5 |
G |
T |
17: 38,063,054 (GRCm39) |
C103F |
probably damaging |
Het |
Or13f5 |
T |
C |
4: 52,826,240 (GRCm39) |
L281P |
probably damaging |
Het |
Or9i16 |
T |
C |
19: 13,864,912 (GRCm39) |
I221V |
probably benign |
Het |
Pappa |
G |
A |
4: 65,233,033 (GRCm39) |
|
probably null |
Het |
Pcdhb17 |
G |
A |
18: 37,619,652 (GRCm39) |
G481S |
probably damaging |
Het |
Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
Phf3 |
A |
T |
1: 30,902,169 (GRCm39) |
M48K |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,843,933 (GRCm39) |
V613E |
probably damaging |
Het |
Poc1a |
T |
C |
9: 106,226,887 (GRCm39) |
S327P |
possibly damaging |
Het |
Ptpn9 |
A |
G |
9: 56,927,321 (GRCm39) |
H66R |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,377,561 (GRCm39) |
R353* |
probably null |
Het |
Rcc1l |
G |
T |
5: 134,200,729 (GRCm39) |
N134K |
probably damaging |
Het |
Rims1 |
G |
A |
1: 22,497,793 (GRCm39) |
T787I |
probably damaging |
Het |
Rreb1 |
T |
G |
13: 38,132,777 (GRCm39) |
S1651A |
probably damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,019,238 (GRCm39) |
D100G |
probably damaging |
Het |
Samd4 |
C |
T |
14: 47,301,703 (GRCm39) |
R147C |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,025,299 (GRCm39) |
|
probably benign |
Het |
Ska1 |
T |
C |
18: 74,330,111 (GRCm39) |
I210V |
probably benign |
Het |
Slc17a1 |
A |
G |
13: 24,062,543 (GRCm39) |
I237V |
probably benign |
Het |
Slc22a4 |
A |
T |
11: 53,888,336 (GRCm39) |
S231T |
probably benign |
Het |
Slc7a4 |
T |
A |
16: 17,393,797 (GRCm39) |
M66L |
probably damaging |
Het |
Snapc1 |
A |
G |
12: 74,030,642 (GRCm39) |
T381A |
possibly damaging |
Het |
St6galnac2 |
C |
T |
11: 116,575,351 (GRCm39) |
|
probably benign |
Het |
Taar2 |
C |
T |
10: 23,817,401 (GRCm39) |
L314F |
probably benign |
Het |
Tmem74b |
A |
G |
2: 151,548,561 (GRCm39) |
D96G |
probably damaging |
Het |
Tnfrsf17 |
T |
C |
16: 11,131,833 (GRCm39) |
F6S |
probably benign |
Het |
Tpp2 |
G |
T |
1: 43,993,870 (GRCm39) |
G252W |
probably damaging |
Het |
Trf |
A |
G |
9: 103,100,807 (GRCm39) |
F209L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,935 (GRCm39) |
|
probably benign |
Het |
Uhmk1 |
A |
T |
1: 170,034,774 (GRCm39) |
H311Q |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,840,108 (GRCm39) |
Q248K |
probably damaging |
Het |
Uqcrc2 |
A |
G |
7: 120,250,144 (GRCm39) |
Y253C |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,697,390 (GRCm39) |
F101L |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,070 (GRCm39) |
N381S |
probably benign |
Het |
Zfp879 |
T |
A |
11: 50,724,024 (GRCm39) |
Y271F |
probably 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 |
R4597:Lats1
|
UTSW |
10 |
7,567,510 (GRCm39) |
missense |
probably benign |
0.00 |
R4657:Lats1
|
UTSW |
10 |
7,581,448 (GRCm39) |
missense |
possibly damaging |
0.82 |
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'- GAAGTAGAGCAAGTCACTCTGC -3'
(R):5'- TATCCCCAGAGTCACCACTGTC -3'
Sequencing Primer
(F):5'- GAGCAAGTCACTCTGCTAATTCTCAG -3'
(R):5'- GAGTCACCACTGTCCGCACTC -3'
|
Posted On |
2015-10-08 |