Incidental Mutation 'IGL01644:St7l'
| ID |
102598 |
| 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 # |
IGL01644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 104826772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 377
(R377*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
| AlphaFold |
Q8K4P7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059271
AA Change: R455*
|
| SMART Domains |
Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: R455*
| 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 null
Transcript: ENSMUST00000106769
AA Change: R423*
|
| SMART Domains |
Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: R423*
| 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 null
Transcript: ENSMUST00000197098
AA Change: R226*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199335
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200132
AA Change: R377*
|
| SMART Domains |
Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: R377*
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
A |
G |
7: 100,946,424 (GRCm39) |
*82R |
probably null |
Het |
| Crb1 |
T |
A |
1: 139,165,368 (GRCm39) |
R919* |
probably null |
Het |
| Csf1 |
T |
C |
3: 107,661,158 (GRCm39) |
T120A |
possibly damaging |
Het |
| Defa29 |
A |
T |
8: 21,816,137 (GRCm39) |
C77S |
possibly damaging |
Het |
| Defb7 |
A |
T |
8: 19,547,717 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
C |
16: 20,436,616 (GRCm39) |
V146A |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,917,273 (GRCm39) |
S96C |
probably damaging |
Het |
| Gm7729 |
T |
C |
18: 27,731,872 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln2 |
G |
T |
3: 87,929,944 (GRCm39) |
R311S |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,080,233 (GRCm39) |
P679L |
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,840,475 (GRCm39) |
I275T |
probably benign |
Het |
| Med29 |
A |
G |
7: 28,090,272 (GRCm39) |
F108L |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 90,928,301 (GRCm39) |
C789Y |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,632,768 (GRCm39) |
|
probably benign |
Het |
| Or4c123 |
T |
C |
2: 89,126,976 (GRCm39) |
I213V |
probably benign |
Het |
| Palld |
T |
C |
8: 62,330,512 (GRCm39) |
K122E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,909,719 (GRCm39) |
L864H |
probably damaging |
Het |
| Ptov1 |
C |
A |
7: 44,516,926 (GRCm39) |
E37* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,429,436 (GRCm39) |
V482A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,585,727 (GRCm39) |
P13643T |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,836,794 (GRCm39) |
T2917S |
probably benign |
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 |
|
IGL00945:St7l
|
APN |
3 |
104,833,798 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2014-01-21 |
Incidental Mutation