Incidental Mutation 'IGL02371:Lzts1'
| ID |
290927 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lzts1
|
| Ensembl Gene |
ENSMUSG00000036306 |
| Gene Name |
leucine zipper, putative tumor suppressor 1 |
| Synonyms |
FEZ1, PSD-Zip70, F37 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
69585321-69636877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69591450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 233
(S233T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037049]
[ENSMUST00000185176]
|
| AlphaFold |
P60853 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037049
AA Change: S233T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: S233T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
350 |
N/A |
INTRINSIC |
|
Pfam:Fez1
|
378 |
568 |
3.9e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185176
AA Change: S233T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: S233T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
350 |
N/A |
INTRINSIC |
|
Pfam:Fez1
|
378 |
569 |
2.3e-79 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009]
PHENOTYPE: Heterozygous or homozygous inactivation of this gene leads to increased incidence of spontaneous and carcinogen-induced tumors. Homozygtes for a null allele show working memory and cognitive deficits, enhanced anxiety, defects in glutamatergic synaptic transmission, and impaired spine maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lzts1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Lzts1
|
APN |
8 |
69,588,744 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01313:Lzts1
|
APN |
8 |
69,591,759 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02508:Lzts1
|
APN |
8 |
69,593,500 (GRCm39) |
nonsense |
probably null |
|
|
IGL03238:Lzts1
|
APN |
8 |
69,591,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Lzts1
|
UTSW |
8 |
69,588,392 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1442:Lzts1
|
UTSW |
8 |
69,591,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1887:Lzts1
|
UTSW |
8 |
69,591,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Lzts1
|
UTSW |
8 |
69,593,257 (GRCm39) |
splice site |
probably null |
|
|
R4238:Lzts1
|
UTSW |
8 |
69,588,579 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4489:Lzts1
|
UTSW |
8 |
69,588,347 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4508:Lzts1
|
UTSW |
8 |
69,588,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4965:Lzts1
|
UTSW |
8 |
69,591,414 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5159:Lzts1
|
UTSW |
8 |
69,591,236 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5643:Lzts1
|
UTSW |
8 |
69,591,729 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5644:Lzts1
|
UTSW |
8 |
69,591,729 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5782:Lzts1
|
UTSW |
8 |
69,593,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6146:Lzts1
|
UTSW |
8 |
69,593,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7069:Lzts1
|
UTSW |
8 |
69,593,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Lzts1
|
UTSW |
8 |
69,588,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Lzts1
|
UTSW |
8 |
69,588,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8100:Lzts1
|
UTSW |
8 |
69,593,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Lzts1
|
UTSW |
8 |
69,593,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Lzts1
|
UTSW |
8 |
69,591,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation