Incidental Mutation 'R2874:St7'
ID |
260455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St7
|
Ensembl Gene |
ENSMUSG00000029534 |
Gene Name |
suppression of tumorigenicity 7 |
Synonyms |
RAY1, HELG, TSG7, Fam4a2, 9430001H04Rik, SEN4 |
MMRRC Submission |
040462-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R2874 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
17693579-17943022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 17819276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 60
(P60L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000674]
[ENSMUST00000052113]
[ENSMUST00000053148]
[ENSMUST00000077080]
[ENSMUST00000081635]
[ENSMUST00000115417]
[ENSMUST00000115418]
[ENSMUST00000115419]
[ENSMUST00000115420]
[ENSMUST00000144488]
[ENSMUST00000125673]
[ENSMUST00000150281]
|
AlphaFold |
Q99M96 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000674
AA Change: P14L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000000674 Gene: ENSMUSG00000029534 AA Change: P14L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
2 |
507 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052113
AA Change: P60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062886 Gene: ENSMUSG00000029534 AA Change: P60L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
554 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053148
AA Change: P17L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057326 Gene: ENSMUSG00000029534 AA Change: P17L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
3 |
534 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077080
AA Change: P14L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076334 Gene: ENSMUSG00000029534 AA Change: P14L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
2 |
531 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081635
AA Change: P60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080341 Gene: ENSMUSG00000029534 AA Change: P60L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
17 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115417
AA Change: P17L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111077 Gene: ENSMUSG00000029534 AA Change: P17L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
3 |
511 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115418
AA Change: P60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111078 Gene: ENSMUSG00000029534 AA Change: P60L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
480 |
5e-278 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140358
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115419
AA Change: P60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111079 Gene: ENSMUSG00000029534 AA Change: P60L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
572 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115420
AA Change: P60L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111080 Gene: ENSMUSG00000029534 AA Change: P60L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
448 |
2.5e-278 |
PFAM |
Pfam:ST7
|
445 |
523 |
2e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129105
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138726
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144488
AA Change: P60L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115215 Gene: ENSMUSG00000029534 AA Change: P60L
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
82 |
6.3e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132175
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125673
|
SMART Domains |
Protein: ENSMUSP00000122970 Gene: ENSMUSG00000029534
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
52 |
1.9e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150281
|
SMART Domains |
Protein: ENSMUSP00000116304 Gene: ENSMUSG00000029534
Domain | Start | End | E-Value | Type |
Pfam:ST7
|
16 |
58 |
1.9e-15 |
PFAM |
|
Meta Mutation Damage Score |
0.9707 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930029G22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
Ankrd42 |
T |
C |
7: 92,254,566 (GRCm39) |
K348E |
possibly damaging |
Het |
Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
Cebpz |
A |
T |
17: 79,239,532 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,293,520 (GRCm39) |
I412T |
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,415,294 (GRCm39) |
D690V |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,606,831 (GRCm39) |
F531I |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,570,031 (GRCm39) |
V460A |
possibly damaging |
Het |
Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
Fscb |
T |
C |
12: 64,520,210 (GRCm39) |
K419E |
probably benign |
Het |
Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
Ggct |
G |
T |
6: 54,969,759 (GRCm39) |
A21D |
probably damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,327,996 (GRCm39) |
K79R |
possibly damaging |
Het |
Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,741,705 (GRCm39) |
L3188P |
probably damaging |
Het |
Matcap1 |
A |
G |
8: 106,008,664 (GRCm39) |
M451T |
possibly damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Noc4l |
A |
G |
5: 110,796,969 (GRCm39) |
V465A |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,350,247 (GRCm39) |
C2298R |
possibly damaging |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Plxna3 |
T |
A |
X: 73,383,002 (GRCm39) |
|
probably benign |
Het |
Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
Prps1 |
C |
T |
X: 139,372,743 (GRCm39) |
|
probably benign |
Het |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Qng1 |
T |
A |
13: 58,530,384 (GRCm39) |
I209F |
probably damaging |
Het |
Ralgds |
A |
G |
2: 28,438,781 (GRCm39) |
|
probably null |
Het |
Rasl12 |
A |
G |
9: 65,315,605 (GRCm39) |
N83S |
probably benign |
Het |
Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,100,484 (GRCm39) |
I205T |
probably benign |
Het |
Sgk2 |
A |
G |
2: 162,836,449 (GRCm39) |
|
probably benign |
Het |
Spsb4 |
G |
T |
9: 96,878,071 (GRCm39) |
T84K |
probably damaging |
Het |
Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,088,107 (GRCm39) |
I85T |
possibly damaging |
Het |
Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
|
Other mutations in St7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00572:St7
|
APN |
6 |
17,855,005 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01312:St7
|
APN |
6 |
17,922,013 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01562:St7
|
APN |
6 |
17,922,034 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01935:St7
|
APN |
6 |
17,930,822 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02127:St7
|
APN |
6 |
17,844,968 (GRCm39) |
intron |
probably benign |
|
IGL02954:St7
|
APN |
6 |
17,848,030 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02980:St7
|
UTSW |
6 |
17,749,545 (GRCm39) |
intron |
probably benign |
|
R0457:St7
|
UTSW |
6 |
17,819,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:St7
|
UTSW |
6 |
17,934,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R0680:St7
|
UTSW |
6 |
17,942,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R1575:St7
|
UTSW |
6 |
17,886,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R2039:St7
|
UTSW |
6 |
17,886,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:St7
|
UTSW |
6 |
17,886,006 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2194:St7
|
UTSW |
6 |
17,942,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:St7
|
UTSW |
6 |
17,819,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:St7
|
UTSW |
6 |
17,819,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R2873:St7
|
UTSW |
6 |
17,819,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R2970:St7
|
UTSW |
6 |
17,844,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R3076:St7
|
UTSW |
6 |
17,846,237 (GRCm39) |
nonsense |
probably null |
|
R3921:St7
|
UTSW |
6 |
17,846,244 (GRCm39) |
missense |
probably benign |
0.31 |
R4326:St7
|
UTSW |
6 |
17,819,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4327:St7
|
UTSW |
6 |
17,819,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4410:St7
|
UTSW |
6 |
17,854,932 (GRCm39) |
nonsense |
probably null |
|
R4732:St7
|
UTSW |
6 |
17,906,515 (GRCm39) |
splice site |
probably null |
|
R4733:St7
|
UTSW |
6 |
17,906,515 (GRCm39) |
splice site |
probably null |
|
R4868:St7
|
UTSW |
6 |
17,819,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R4988:St7
|
UTSW |
6 |
17,934,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R5132:St7
|
UTSW |
6 |
17,854,956 (GRCm39) |
missense |
probably damaging |
0.97 |
R5182:St7
|
UTSW |
6 |
17,846,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R5195:St7
|
UTSW |
6 |
17,743,636 (GRCm39) |
intron |
probably benign |
|
R5358:St7
|
UTSW |
6 |
17,819,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:St7
|
UTSW |
6 |
17,834,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5882:St7
|
UTSW |
6 |
17,846,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:St7
|
UTSW |
6 |
17,694,221 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6049:St7
|
UTSW |
6 |
17,694,347 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6139:St7
|
UTSW |
6 |
17,694,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:St7
|
UTSW |
6 |
17,819,333 (GRCm39) |
critical splice donor site |
probably null |
|
R6181:St7
|
UTSW |
6 |
17,694,363 (GRCm39) |
critical splice donor site |
probably null |
|
R6401:St7
|
UTSW |
6 |
17,855,317 (GRCm39) |
splice site |
probably null |
|
R6546:St7
|
UTSW |
6 |
17,852,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:St7
|
UTSW |
6 |
17,848,069 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6898:St7
|
UTSW |
6 |
17,854,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:St7
|
UTSW |
6 |
17,886,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R7583:St7
|
UTSW |
6 |
17,942,753 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7626:St7
|
UTSW |
6 |
17,934,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R7718:St7
|
UTSW |
6 |
17,854,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R7943:St7
|
UTSW |
6 |
17,844,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:St7
|
UTSW |
6 |
17,934,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8415:St7
|
UTSW |
6 |
17,848,080 (GRCm39) |
critical splice donor site |
probably null |
|
R9018:St7
|
UTSW |
6 |
17,906,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R9217:St7
|
UTSW |
6 |
17,846,271 (GRCm39) |
missense |
probably damaging |
0.98 |
R9294:St7
|
UTSW |
6 |
17,844,913 (GRCm39) |
nonsense |
probably null |
|
Z1176:St7
|
UTSW |
6 |
17,848,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGGACTTTGCTAACGTTC -3'
(R):5'- CTCTTTATCCCCATCCAACATGAAG -3'
Sequencing Primer
(F):5'- GCAGGGGTTCAGTTTCTAAAACC -3'
(R):5'- GACACAAAATGAATATTGAGAACTGC -3'
|
Posted On |
2015-01-23 |