Incidental Mutation 'IGL00919:St7l'
| ID |
27089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St7l
|
| Ensembl Gene |
ENSMUSG00000045576 |
| Gene Name |
suppression of tumorigenicity 7-like |
| Synonyms |
St7r |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104833782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 481
(L481H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
| AlphaFold |
Q8K4P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059271
AA Change: L513H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: L513H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
Pfam:ST7
|
41 |
559 |
1.6e-292 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106769
AA Change: L481H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: L481H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
Pfam:ST7
|
41 |
420 |
8.2e-209 |
PFAM |
|
Pfam:ST7
|
419 |
527 |
1.4e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183914
|
| SMART Domains |
Protein: ENSMUSP00000139266
Gene: ENSMUSG00000045576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200132
AA Change: L435H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: L435H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
Pfam:ST7
|
41 |
212 |
2.7e-81 |
PFAM |
|
Pfam:ST7
|
209 |
481 |
1.3e-167 |
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 was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef1 |
A |
G |
1: 10,243,462 (GRCm39) |
V1029A |
probably damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,163,762 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,262,982 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Ctps1 |
A |
G |
4: 120,424,545 (GRCm39) |
V23A |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,927,535 (GRCm39) |
E333G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,207,064 (GRCm39) |
V176A |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,455,552 (GRCm39) |
I544T |
probably damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,316 (GRCm39) |
V166A |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,926,549 (GRCm39) |
|
probably null |
Het |
| Nell2 |
T |
A |
15: 95,281,608 (GRCm39) |
D366V |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,683 (GRCm39) |
I197N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,093,481 (GRCm39) |
Y61* |
probably null |
Het |
| Or4c121 |
T |
G |
2: 89,023,848 (GRCm39) |
M177L |
probably benign |
Het |
| Pcdh1 |
T |
A |
18: 38,335,865 (GRCm39) |
K118* |
probably null |
Het |
| Phf12 |
T |
A |
11: 77,874,166 (GRCm39) |
I10N |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,041,380 (GRCm39) |
C250S |
probably damaging |
Het |
| Rtl8c |
A |
G |
X: 52,610,187 (GRCm39) |
T59A |
possibly damaging |
Het |
| Serpine1 |
A |
G |
5: 137,092,376 (GRCm39) |
I377T |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,965,008 (GRCm39) |
D865V |
probably damaging |
Het |
| Ski |
A |
T |
4: 155,306,799 (GRCm39) |
V60E |
possibly damaging |
Het |
| Tmpo |
A |
G |
10: 90,998,662 (GRCm39) |
I375T |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,041,086 (GRCm39) |
D266G |
probably damaging |
Het |
|
| Other mutations in St7l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:St7l
|
APN |
3 |
104,780,895 (GRCm39) |
splice site |
probably benign |
|
|
IGL00945:St7l
|
APN |
3 |
104,833,798 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01644:St7l
|
APN |
3 |
104,826,772 (GRCm39) |
nonsense |
probably null |
|
|
IGL02158:St7l
|
APN |
3 |
104,782,148 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02164:St7l
|
APN |
3 |
104,829,597 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02331:St7l
|
APN |
3 |
104,833,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03220:St7l
|
APN |
3 |
104,782,139 (GRCm39) |
splice site |
probably benign |
|
|
R0118:St7l
|
UTSW |
3 |
104,796,619 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0320:St7l
|
UTSW |
3 |
104,778,229 (GRCm39) |
nonsense |
probably null |
|
|
R0345:St7l
|
UTSW |
3 |
104,803,125 (GRCm39) |
splice site |
probably benign |
|
|
R0714:St7l
|
UTSW |
3 |
104,782,244 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0784:St7l
|
UTSW |
3 |
104,778,240 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1664:St7l
|
UTSW |
3 |
104,778,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:St7l
|
UTSW |
3 |
104,778,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1800:St7l
|
UTSW |
3 |
104,826,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:St7l
|
UTSW |
3 |
104,775,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3692:St7l
|
UTSW |
3 |
104,798,870 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3879:St7l
|
UTSW |
3 |
104,833,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:St7l
|
UTSW |
3 |
104,803,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:St7l
|
UTSW |
3 |
104,775,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:St7l
|
UTSW |
3 |
104,782,244 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6191:St7l
|
UTSW |
3 |
104,775,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:St7l
|
UTSW |
3 |
104,826,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7307:St7l
|
UTSW |
3 |
104,796,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7442:St7l
|
UTSW |
3 |
104,796,645 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7860:St7l
|
UTSW |
3 |
104,833,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8523:St7l
|
UTSW |
3 |
104,775,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:St7l
|
UTSW |
3 |
104,796,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:St7l
|
UTSW |
3 |
104,778,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:St7l
|
UTSW |
3 |
104,772,625 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation