Incidental Mutation 'R0784:St7l'
| ID |
76756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St7l
|
| Ensembl Gene |
ENSMUSG00000045576 |
| Gene Name |
suppression of tumorigenicity 7-like |
| Synonyms |
St7r |
| MMRRC Submission |
038964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104778240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 126
(M126V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000123876]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
| AlphaFold |
Q8K4P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059271
AA Change: M126V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: M126V
| 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 benign
Transcript: ENSMUST00000106769
AA Change: M126V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: M126V
| 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: ENSMUST00000123876
AA Change: M126V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138577
Gene: ENSMUSG00000045576
AA Change: M126V
| 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 benign
Transcript: ENSMUST00000200132
AA Change: M126V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: M126V
| 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 |
0.1761 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
| Validation Efficiency |
97% (59/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,558,141 (GRCm39) |
G293D |
possibly damaging |
Het |
| Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
| Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
| Cbfa2t3 |
A |
G |
8: 123,377,226 (GRCm39) |
|
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
| Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
| Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
| Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
| Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
| Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,601,667 (GRCm39) |
M249I |
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
| LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
| Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,661,209 (GRCm39) |
|
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
| Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
| Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
| Sry |
G |
T |
Y: 2,662,731 (GRCm39) |
Q310K |
unknown |
Het |
| St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
| Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
| Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
| Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
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 |
|
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 |
2013-10-16 |
Incidental Mutation