Incidental Mutation 'R7736:Lats1'
| ID |
596269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats1
|
| Ensembl Gene |
ENSMUSG00000040021 |
| Gene Name |
large tumor suppressor |
| Synonyms |
|
| MMRRC Submission |
045792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.822)
|
| Stock # |
R7736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 7578128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 417
(N417K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
| AlphaFold |
Q8BYR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040043
AA Change: N417K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: N417K
| 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 damaging
Transcript: ENSMUST00000165952
AA Change: N417K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: N417K
| 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 damaging
Transcript: ENSMUST00000217931
AA Change: N417K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,359,123 (GRCm39) |
D561A |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,731,965 (GRCm39) |
F204S |
probably benign |
Het |
| Apoa2 |
T |
C |
1: 171,053,741 (GRCm39) |
L72P |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,030,583 (GRCm39) |
K987* |
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,188,981 (GRCm39) |
D9G |
unknown |
Het |
| Asph |
A |
G |
4: 9,621,930 (GRCm39) |
S192P |
possibly damaging |
Het |
| Bcas1 |
G |
A |
2: 170,229,084 (GRCm39) |
T309M |
possibly damaging |
Het |
| Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
| Bmp5 |
A |
T |
9: 75,801,072 (GRCm39) |
I401L |
probably damaging |
Het |
| Bpifb9b |
G |
A |
2: 154,154,025 (GRCm39) |
G261R |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,675,252 (GRCm39) |
Y106F |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,103,519 (GRCm39) |
D366V |
probably benign |
Het |
| Ceacam10 |
G |
C |
7: 24,480,636 (GRCm39) |
V256L |
unknown |
Het |
| Cilp2 |
A |
G |
8: 70,334,071 (GRCm39) |
Y976H |
probably damaging |
Het |
| Cklf |
A |
G |
8: 104,988,187 (GRCm39) |
T107A |
possibly damaging |
Het |
| Dhx16 |
T |
A |
17: 36,192,568 (GRCm39) |
W167R |
possibly damaging |
Het |
| Dkk2 |
T |
G |
3: 131,883,775 (GRCm39) |
L225R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,718,625 (GRCm39) |
D1782V |
unknown |
Het |
| Ebag9 |
A |
T |
15: 44,491,800 (GRCm39) |
D64V |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,382 (GRCm39) |
N144D |
possibly damaging |
Het |
| Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
| Foxk2 |
A |
T |
11: 121,190,473 (GRCm39) |
Q538L |
possibly damaging |
Het |
| Fpgt |
T |
G |
3: 154,792,747 (GRCm39) |
I427L |
probably benign |
Het |
| Ganc |
A |
T |
2: 120,264,295 (GRCm39) |
N416I |
possibly damaging |
Het |
| Gata6 |
A |
G |
18: 11,084,379 (GRCm39) |
Y556C |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,589,747 (GRCm39) |
V534E |
probably damaging |
Het |
| Gm7324 |
T |
A |
14: 43,952,256 (GRCm39) |
S300T |
possibly damaging |
Het |
| Gprc6a |
A |
C |
10: 51,491,549 (GRCm39) |
N733K |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,952,740 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ift88 |
T |
G |
14: 57,683,121 (GRCm39) |
V266G |
probably benign |
Het |
| Ip6k1 |
G |
T |
9: 107,922,891 (GRCm39) |
G341V |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 94,967,029 (GRCm39) |
A45E |
probably damaging |
Het |
| Kctd14 |
T |
A |
7: 97,107,147 (GRCm39) |
L134Q |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,388,285 (GRCm39) |
H2380R |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,460,705 (GRCm39) |
T444A |
probably benign |
Het |
| M1ap |
T |
C |
6: 82,982,565 (GRCm39) |
I283T |
probably benign |
Het |
| Mapre2 |
T |
C |
18: 24,011,012 (GRCm39) |
S207P |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,158,608 (GRCm39) |
F421L |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,813,192 (GRCm39) |
C33* |
probably null |
Het |
| Or14j4 |
A |
T |
17: 37,921,303 (GRCm39) |
L113H |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,197 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,758 (GRCm39) |
T7A |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,382,394 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,204 (GRCm39) |
Y128H |
probably benign |
Het |
| Phf11 |
C |
T |
14: 59,488,594 (GRCm39) |
D68N |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,261,093 (GRCm39) |
V1027A |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,946,991 (GRCm39) |
V8A |
probably benign |
Het |
| Por |
A |
G |
5: 135,759,976 (GRCm39) |
E221G |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,500 (GRCm39) |
L14* |
probably null |
Het |
| Ptgis |
A |
G |
2: 167,033,891 (GRCm39) |
F459S |
unknown |
Het |
| Ptpru |
T |
C |
4: 131,515,693 (GRCm39) |
E887G |
probably damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,518,206 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
G |
3: 90,296,740 (GRCm39) |
S120P |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,717 (GRCm39) |
Y191N |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
| Syncrip |
A |
G |
9: 88,343,721 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
A |
10: 23,836,897 (GRCm39) |
V169E |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,116,923 (GRCm39) |
G237D |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,117,571 (GRCm39) |
K30E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,847,875 (GRCm39) |
L330Q |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,053,455 (GRCm39) |
F698L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,739,574 (GRCm39) |
Q3701L |
unknown |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,757 (GRCm39) |
R685K |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,059,757 (GRCm39) |
A321E |
unknown |
Het |
| Zdbf2 |
T |
A |
1: 63,347,166 (GRCm39) |
Y1848* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,146,176 (GRCm39) |
N61K |
probably null |
Het |
| Zfp867 |
C |
T |
11: 59,354,016 (GRCm39) |
A438T |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,319 (GRCm39) |
T404I |
probably benign |
Het |
| Zrsr2-ps1 |
C |
T |
11: 22,923,510 (GRCm39) |
Q95* |
probably null |
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 |
|
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 |
|
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'- GGTCAGTCTGATTTTATCGTGCAC -3'
(R):5'- ACTGTAGTGGCAGAAGGCTG -3'
Sequencing Primer
(F):5'- TTATCGTGCACCAAAATGTCC -3'
(R):5'- CTGAGAATTAGCAGAGTGACTTGCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation