Incidental Mutation 'IGL00725:Sestd1'
| ID |
13986 |
| 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 # |
IGL00725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
77010684-77110936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77018866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 647
(I647V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102659]
[ENSMUST00000102660]
|
| AlphaFold |
Q80UK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102659
AA Change: I647V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: I647V
| 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 |
probably benign
Transcript: ENSMUST00000102660
AA Change: I647V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: I647V
| 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 |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
G |
T |
3: 35,881,222 (GRCm39) |
R593L |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,463,908 (GRCm39) |
D566E |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,329,946 (GRCm39) |
D912G |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,544,923 (GRCm39) |
D355N |
probably benign |
Het |
| Clock |
A |
C |
5: 76,402,260 (GRCm39) |
Y133* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,639,616 (GRCm39) |
V582E |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,277,460 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,295,691 (GRCm39) |
L43P |
probably damaging |
Het |
| Dnase2b |
G |
A |
3: 146,302,133 (GRCm39) |
T8I |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,208,328 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
G |
5: 31,331,752 (GRCm39) |
V22A |
probably damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,427 (GRCm39) |
I194T |
possibly damaging |
Het |
| Krt9 |
T |
A |
11: 100,080,832 (GRCm39) |
E340V |
probably damaging |
Het |
| Nup58 |
G |
T |
14: 60,480,889 (GRCm39) |
T152K |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,923,516 (GRCm39) |
S1050G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,634,503 (GRCm39) |
N3580S |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,836,137 (GRCm39) |
S392P |
probably damaging |
Het |
| Sugct |
A |
T |
13: 17,837,357 (GRCm39) |
S91R |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,344,922 (GRCm38) |
Y1227S |
possibly damaging |
Het |
| Synpo |
C |
T |
18: 60,737,149 (GRCm39) |
V27I |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,430,574 (GRCm39) |
I233T |
possibly damaging |
Het |
| Vwde |
A |
G |
6: 13,187,411 (GRCm39) |
V692A |
probably benign |
Het |
|
| Other mutations in Sestd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Sestd1
|
APN |
2 |
77,042,796 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
2012-12-06 |
Incidental Mutation