Incidental Mutation 'R5130:St7l'
| ID |
394943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St7l
|
| Ensembl Gene |
ENSMUSG00000045576 |
| Gene Name |
suppression of tumorigenicity 7-like |
| Synonyms |
St7r |
| MMRRC Submission |
042718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5130 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104771822-104837384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104803080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 330
(H330L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059271]
[ENSMUST00000106769]
[ENSMUST00000183914]
[ENSMUST00000200132]
|
| AlphaFold |
Q8K4P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059271
AA Change: H408L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: H408L
| 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: H408L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: H408L
| 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 |
noncoding transcript
Transcript: ENSMUST00000140457
|
| 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: ENSMUST00000199335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200132
AA Change: H330L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: H330L
| 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 |
0.6170 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
96% (51/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
T |
C |
1: 161,780,184 (GRCm39) |
N110S |
possibly damaging |
Het |
| Acss3 |
T |
C |
10: 106,840,586 (GRCm39) |
I392V |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,633,321 (GRCm39) |
H696R |
possibly damaging |
Het |
| Baiap3 |
G |
T |
17: 25,464,316 (GRCm39) |
D847E |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,425,600 (GRCm39) |
K72R |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,254,944 (GRCm39) |
E137G |
probably benign |
Het |
| Dhodh |
A |
T |
8: 110,322,388 (GRCm39) |
L237Q |
possibly damaging |
Het |
| Dscam |
A |
T |
16: 96,620,979 (GRCm39) |
N576K |
probably benign |
Het |
| Eng |
A |
G |
2: 32,571,518 (GRCm39) |
N636S |
probably damaging |
Het |
| Ephx2 |
A |
T |
14: 66,345,511 (GRCm39) |
I151K |
probably damaging |
Het |
| Fahd1 |
A |
G |
17: 25,068,733 (GRCm39) |
C115R |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,891,386 (GRCm39) |
I143F |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,161 (GRCm39) |
N981K |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,496 (GRCm39) |
I211V |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,506,495 (GRCm39) |
V14E |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,058,906 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,809,367 (GRCm39) |
K1775E |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,769 (GRCm39) |
D541G |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,146,887 (GRCm39) |
M1233K |
possibly damaging |
Het |
| Nf2 |
A |
T |
11: 4,779,862 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
C |
T |
7: 18,660,069 (GRCm39) |
T22I |
unknown |
Het |
| Or3a1d |
A |
T |
11: 74,237,993 (GRCm39) |
M19K |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,369 (GRCm39) |
Y94F |
possibly damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
| Pcdha2 |
A |
T |
18: 37,073,722 (GRCm39) |
N451I |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,568,877 (GRCm39) |
F8I |
probably benign |
Het |
| Pdzph1 |
A |
C |
17: 59,229,604 (GRCm39) |
L1018W |
probably damaging |
Het |
| Prdm9 |
T |
C |
17: 15,764,729 (GRCm39) |
R684G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,557 (GRCm39) |
V261E |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,548 (GRCm39) |
D904E |
possibly damaging |
Het |
| Siah3 |
A |
T |
14: 75,763,381 (GRCm39) |
K211* |
probably null |
Het |
| Slc5a8 |
T |
A |
10: 88,762,077 (GRCm39) |
N572K |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Sowahb |
T |
A |
5: 93,190,630 (GRCm39) |
K696N |
possibly damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,629,176 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
T |
5: 111,040,722 (GRCm39) |
V37F |
probably benign |
Het |
| Uaca |
C |
A |
9: 60,787,510 (GRCm39) |
Q1409K |
probably damaging |
Het |
| V1rd19 |
T |
A |
7: 23,702,537 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,047 (GRCm39) |
R163G |
possibly damaging |
Het |
| Wdr87-ps |
T |
C |
7: 29,228,699 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h3 |
C |
A |
15: 75,651,139 (GRCm39) |
V694L |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,251,530 (GRCm39) |
T123K |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,451 (GRCm39) |
S646T |
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 |
|
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 |
|
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'- CGCATTCATGGTTATCTGGTC -3'
(R):5'- GCAATTACAAAGCCCAGGGG -3'
Sequencing Primer
(F):5'- CGCATTCATGGTTATCTGGTCTTGTC -3'
(R):5'- GACTGGCTCAAACTCGCTGTATAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation