Incidental Mutation 'IGL02439:Sestd1'
| ID |
293384 |
| 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 # |
IGL02439
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
77010684-77110936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77027174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 479
(K479E)
|
| 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: K479E
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: K479E
| 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: K479E
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: K479E
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
| Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
| Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
| Gulp1 |
A |
T |
1: 44,820,164 (GRCm39) |
I216F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,724,268 (GRCm39) |
T453I |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
| Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
| Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
| Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
| Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,473,532 (GRCm39) |
D635G |
probably damaging |
Het |
| Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,930,323 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
| Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
| Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,504,321 (GRCm39) |
V420M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
T |
A |
18: 5,213,216 (GRCm39) |
S581C |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation