Incidental Mutation 'R3879:St7l'
| ID |
308671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St7l
|
| Ensembl Gene |
ENSMUSG00000045576 |
| Gene Name |
suppression of tumorigenicity 7-like |
| Synonyms |
St7r |
| MMRRC Submission |
040793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104833763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 475
(V475I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
| AlphaFold |
Q8K4P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059271
AA Change: V507I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: V507I
| 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: V475I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: V475I
| 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 damaging
Transcript: ENSMUST00000200132
AA Change: V429I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: V429I
| 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 |
|
| Meta Mutation Damage Score |
0.4196 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
| Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
| Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
| Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
| Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
possibly 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 |
|
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 |
|
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'- CAGCCATCTGACTATGCAGATAAAG -3'
(R):5'- CTACAAGTGTCTTCCGCTGC -3'
Sequencing Primer
(F):5'- CCATGTTCTTAATTTTCAAAGC -3'
(R):5'- CACTGGCAGATGAGAGATGCTTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation