Incidental Mutation 'R0320:St7l'
ID |
38271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St7l
|
Ensembl Gene |
ENSMUSG00000045576 |
Gene Name |
suppression of tumorigenicity 7-like |
Synonyms |
St7r |
MMRRC Submission |
038530-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R0320 (G1)
|
Quality Score |
173 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 104778229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 122
(L122*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000123876]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
AlphaFold |
Q8K4P7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059271
AA Change: L122*
|
SMART Domains |
Protein: ENSMUSP00000058455 Gene: ENSMUSG00000045576 AA Change: L122*
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: L122*
|
SMART Domains |
Protein: ENSMUSP00000102380 Gene: ENSMUSG00000045576 AA Change: L122*
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 null
Transcript: ENSMUST00000123876
AA Change: L122*
|
SMART Domains |
Protein: ENSMUSP00000138577 Gene: ENSMUSG00000045576 AA Change: L122*
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
Pfam:ST7
|
41 |
282 |
6.7e-96 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146237
|
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 benign
Transcript: ENSMUST00000197098
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200132
AA Change: L122*
|
SMART Domains |
Protein: ENSMUSP00000143759 Gene: ENSMUSG00000045576 AA Change: L122*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199186
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
100% (71/71) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,571 (GRCm39) |
T465A |
probably benign |
Het |
A430110L20Rik |
T |
G |
1: 181,054,987 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4fm1 |
A |
T |
4: 144,248,990 (GRCm39) |
H119L |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,689,746 (GRCm39) |
R439Q |
probably benign |
Het |
Abcb8 |
T |
C |
5: 24,605,788 (GRCm39) |
S199P |
probably damaging |
Het |
Adam8 |
C |
A |
7: 139,566,355 (GRCm39) |
C556F |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,819 (GRCm39) |
T523A |
probably benign |
Het |
Aldh3b1 |
T |
C |
19: 3,968,999 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
A |
1: 171,231,372 (GRCm39) |
W230R |
possibly damaging |
Het |
Atp8b4 |
A |
G |
2: 126,301,614 (GRCm39) |
I82T |
possibly damaging |
Het |
Bptf |
A |
T |
11: 106,963,645 (GRCm39) |
L1850I |
probably damaging |
Het |
C4b |
C |
A |
17: 34,952,135 (GRCm39) |
V1237L |
probably benign |
Het |
Calu |
C |
A |
6: 29,374,550 (GRCm39) |
|
probably benign |
Het |
Cit |
C |
A |
5: 116,117,504 (GRCm39) |
L1227M |
possibly damaging |
Het |
Col4a1 |
C |
T |
8: 11,292,782 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,029,012 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
C |
11: 76,731,273 (GRCm39) |
D311G |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,924,363 (GRCm39) |
S972T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,943,500 (GRCm39) |
F3201L |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,607,035 (GRCm39) |
R2113S |
probably benign |
Het |
Dym |
T |
A |
18: 75,332,333 (GRCm39) |
D520E |
probably damaging |
Het |
Eif5a |
G |
T |
11: 69,808,305 (GRCm39) |
T64K |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,306,389 (GRCm39) |
|
probably benign |
Het |
Ints6 |
A |
T |
14: 62,945,084 (GRCm39) |
Y415* |
probably null |
Het |
Itga1 |
A |
G |
13: 115,114,130 (GRCm39) |
|
probably benign |
Het |
Itgae |
A |
G |
11: 73,021,825 (GRCm39) |
H902R |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,953,432 (GRCm39) |
I916T |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,366,581 (GRCm39) |
I406T |
probably benign |
Het |
Lmx1a |
C |
T |
1: 167,618,973 (GRCm39) |
Q111* |
probably null |
Het |
Lrrc25 |
T |
C |
8: 71,070,896 (GRCm39) |
Y226H |
probably benign |
Het |
Mcam |
T |
A |
9: 44,051,483 (GRCm39) |
N447K |
possibly damaging |
Het |
Mcm10 |
A |
T |
2: 5,008,897 (GRCm39) |
D357E |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,251 (GRCm39) |
T769A |
probably benign |
Het |
Ofcc1 |
G |
C |
13: 40,360,172 (GRCm39) |
Q286E |
probably benign |
Het |
Or1e23 |
T |
G |
11: 73,407,750 (GRCm39) |
I92L |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,861 (GRCm39) |
I217F |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,353,011 (GRCm39) |
N55I |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,825,953 (GRCm39) |
|
probably null |
Het |
Pilrb1 |
G |
A |
5: 137,853,260 (GRCm39) |
T181I |
probably benign |
Het |
Ppm1n |
A |
G |
7: 19,012,281 (GRCm39) |
V317A |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,905,921 (GRCm39) |
F55L |
probably damaging |
Het |
Psd2 |
C |
T |
18: 36,112,697 (GRCm39) |
R131C |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,027 (GRCm39) |
C570S |
possibly damaging |
Het |
Scaf8 |
T |
C |
17: 3,228,530 (GRCm39) |
S443P |
unknown |
Het |
Setd5 |
A |
G |
6: 113,088,442 (GRCm39) |
K190R |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,878,161 (GRCm39) |
H54L |
probably damaging |
Het |
Stom |
C |
T |
2: 35,211,646 (GRCm39) |
R125H |
probably damaging |
Het |
Tigd4 |
T |
A |
3: 84,502,481 (GRCm39) |
V466E |
probably benign |
Het |
Tmc3 |
A |
C |
7: 83,257,027 (GRCm39) |
|
probably benign |
Het |
Vcl |
C |
T |
14: 21,035,692 (GRCm39) |
|
probably benign |
Het |
Vmn1r168 |
G |
A |
7: 23,240,767 (GRCm39) |
R208H |
probably benign |
Het |
Vmn2r75 |
C |
A |
7: 85,814,288 (GRCm39) |
V402L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,674,974 (GRCm39) |
H1698L |
probably damaging |
Het |
Wnt16 |
T |
G |
6: 22,297,992 (GRCm39) |
V286G |
possibly damaging |
Het |
Xirp1 |
C |
A |
9: 119,845,533 (GRCm39) |
V1117L |
probably benign |
Het |
Zfp788 |
C |
T |
7: 41,298,971 (GRCm39) |
H536Y |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCACCCACCCAAGAGCAGATTG -3'
(R):5'- catggcttacttgcATTTACAGGAAGGA -3'
Sequencing Primer
(F):5'- GCAGATTGTGCATGTAAAGTGC -3'
(R):5'- tcacctccctaagcccc -3'
|
Posted On |
2013-05-23 |