Incidental Mutation 'IGL01649:Sestd1'
| ID |
102780 |
| 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 # |
IGL01649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
77010684-77110936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77029389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 330
(Y330H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102659]
[ENSMUST00000102660]
|
| AlphaFold |
Q80UK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102659
AA Change: Y330H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: Y330H
| 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 damaging
Transcript: ENSMUST00000102660
AA Change: Y330H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: Y330H
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145366
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
G |
9: 46,217,116 (GRCm39) |
S220P |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,104,912 (GRCm39) |
N634S |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,491,211 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,911,541 (GRCm39) |
S1518G |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,617,226 (GRCm39) |
V341A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,188,759 (GRCm39) |
V1721A |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,809,553 (GRCm39) |
I274F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,379,139 (GRCm39) |
L622Q |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,176,821 (GRCm39) |
D1960G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,015 (GRCm39) |
T503A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,253,016 (GRCm39) |
Y73C |
probably damaging |
Het |
| Gm9396 |
G |
T |
3: 129,862,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gml2 |
G |
T |
15: 74,696,070 (GRCm39) |
E155* |
probably null |
Het |
| Ikzf4 |
G |
A |
10: 128,471,689 (GRCm39) |
R323C |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,731,229 (GRCm39) |
T240A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,477,351 (GRCm39) |
K480E |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,698 (GRCm39) |
H105R |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,221,870 (GRCm39) |
L1464P |
probably damaging |
Het |
| Mrgpra9 |
A |
C |
7: 46,884,900 (GRCm39) |
L256V |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,329 (GRCm39) |
Q127R |
probably benign |
Het |
| Myom2 |
G |
T |
8: 15,163,755 (GRCm39) |
R1003L |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,225,477 (GRCm39) |
T1806A |
probably damaging |
Het |
| Or10x4 |
T |
C |
1: 174,218,974 (GRCm39) |
L113P |
probably damaging |
Het |
| Pibf1 |
A |
T |
14: 99,425,199 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,044,921 (GRCm39) |
|
probably benign |
Het |
| Ppm1n |
A |
T |
7: 19,012,122 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,550,727 (GRCm39) |
V376A |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,425,855 (GRCm39) |
F143I |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,752,193 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,125,623 (GRCm39) |
P472Q |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,463 (GRCm39) |
K314R |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,470,078 (GRCm39) |
Y508H |
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 |
|
IGL00725:Sestd1
|
APN |
2 |
77,018,866 (GRCm39) |
missense |
probably benign |
|
|
IGL01317:Sestd1
|
APN |
2 |
77,022,889 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
2014-01-21 |
Incidental Mutation