Incidental Mutation 'IGL00488:Sestd1'
| ID |
7144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sestd1
|
| Ensembl Gene |
ENSMUSG00000042272 |
| Gene Name |
SEC14 and spectrin domains 1 |
| Synonyms |
1500031J16Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00488
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
77010684-77110936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77042796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 253
(S253P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102659]
[ENSMUST00000102660]
|
| AlphaFold |
Q80UK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102659
AA Change: S253P
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: S253P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
13 |
154 |
2.9e-13 |
PFAM |
|
SPEC
|
275 |
378 |
3.27e0 |
SMART |
|
Blast:SPEC
|
381 |
494 |
1e-51 |
BLAST |
|
SPEC
|
500 |
602 |
5.79e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102660
AA Change: S253P
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: S253P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
27 |
154 |
1.5e-9 |
PFAM |
|
SPEC
|
275 |
378 |
3.27e0 |
SMART |
|
Blast:SPEC
|
381 |
494 |
1e-51 |
BLAST |
|
SPEC
|
500 |
602 |
5.79e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139021
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
A |
3: 151,248,478 (GRCm39) |
S717T |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,839,469 (GRCm39) |
D585G |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,063,190 (GRCm39) |
N2637K |
possibly damaging |
Het |
| Erg |
C |
A |
16: 95,170,848 (GRCm39) |
|
probably benign |
Het |
| Mak |
C |
T |
13: 41,209,165 (GRCm39) |
|
probably benign |
Het |
| Max |
T |
C |
12: 76,985,404 (GRCm39) |
S132G |
probably damaging |
Het |
| Nfam1 |
T |
C |
15: 82,907,185 (GRCm39) |
Y4C |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,593,711 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,502,200 (GRCm39) |
R72K |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,391 (GRCm39) |
I463V |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,999,332 (GRCm39) |
E480G |
possibly damaging |
Het |
| Rictor |
T |
A |
15: 6,816,071 (GRCm39) |
D1114E |
probably damaging |
Het |
| Slk |
C |
T |
19: 47,608,148 (GRCm39) |
T367I |
probably benign |
Het |
| Tasl |
T |
A |
X: 84,931,985 (GRCm39) |
Y184N |
possibly damaging |
Het |
| Tcirg1 |
T |
G |
19: 3,949,108 (GRCm39) |
I394L |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,778 (GRCm39) |
S1097P |
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,818 (GRCm39) |
H368L |
probably damaging |
Het |
| Wdr20rt |
T |
C |
12: 65,272,744 (GRCm39) |
V69A |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,291,012 (GRCm39) |
S147P |
probably damaging |
Het |
|
| Other mutations in Sestd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Sestd1
|
APN |
2 |
77,018,866 (GRCm39) |
missense |
probably benign |
|
|
IGL01317:Sestd1
|
APN |
2 |
77,022,889 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01649:Sestd1
|
APN |
2 |
77,029,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01953:Sestd1
|
APN |
2 |
77,042,813 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02439:Sestd1
|
APN |
2 |
77,027,174 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0408:Sestd1
|
UTSW |
2 |
77,022,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Sestd1
|
UTSW |
2 |
77,061,066 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0788:Sestd1
|
UTSW |
2 |
77,022,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Sestd1
|
UTSW |
2 |
77,071,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Sestd1
|
UTSW |
2 |
77,042,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4659:Sestd1
|
UTSW |
2 |
77,042,843 (GRCm39) |
missense |
probably null |
0.75 |
|
R5698:Sestd1
|
UTSW |
2 |
77,048,512 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5927:Sestd1
|
UTSW |
2 |
77,017,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7046:Sestd1
|
UTSW |
2 |
77,022,910 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8361:Sestd1
|
UTSW |
2 |
77,017,572 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8468:Sestd1
|
UTSW |
2 |
77,022,090 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8962:Sestd1
|
UTSW |
2 |
77,042,708 (GRCm39) |
missense |
probably benign |
|
|
R9406:Sestd1
|
UTSW |
2 |
77,075,421 (GRCm39) |
start gained |
probably benign |
|
|
X0023:Sestd1
|
UTSW |
2 |
77,029,376 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0057:Sestd1
|
UTSW |
2 |
77,048,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-04-20 |
Incidental Mutation