Incidental Mutation 'IGL00945:St7l'
| ID |
27116 |
| 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 # |
IGL00945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104833798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 486
(H486Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
| AlphaFold |
Q8K4P7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059271
AA Change: H518Q
PolyPhen 2
Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: H518Q
| 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: H486Q
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: H486Q
| 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 |
possibly damaging
Transcript: ENSMUST00000200132
AA Change: H440Q
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: H440Q
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
| Dct |
G |
A |
14: 118,277,916 (GRCm39) |
T218M |
probably damaging |
Het |
| Hcn2 |
C |
T |
10: 79,569,637 (GRCm39) |
R546* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
C |
T |
11: 74,708,192 (GRCm39) |
H464Y |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
| Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
| Pop5 |
A |
G |
5: 115,378,618 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
| Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
| Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,151,725 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
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 |
|
|
IGL00919:St7l
|
APN |
3 |
104,833,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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