Incidental Mutation 'R6252:St7l'
ID |
506268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St7l
|
Ensembl Gene |
ENSMUSG00000045576 |
Gene Name |
suppression of tumorigenicity 7-like |
Synonyms |
St7r |
MMRRC Submission |
044369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6252 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 104826819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000058455 Gene: ENSMUSG00000045576
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
|
SMART Domains |
Protein: ENSMUSP00000102380 Gene: ENSMUSG00000045576
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198831
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199335
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200132
|
SMART Domains |
Protein: ENSMUSP00000143759 Gene: ENSMUSG00000045576
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGTTTGCAAGGCCATATAAGC -3'
(R):5'- AAGGCTTTAGTTTCAACCTCCC -3'
Sequencing Primer
(F):5'- TGCAAGGCCATATAAGCTATTTG -3'
(R):5'- AGTTTCAACCTCCCCCACC -3'
|
Posted On |
2018-03-15 |