Incidental Mutation 'IGL02047:Dse'
| ID |
184957 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dse
|
| Ensembl Gene |
ENSMUSG00000039497 |
| Gene Name |
dermatan sulfate epimerase |
| Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
IGL02047
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 34038841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 51
(Y51*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000215547]
[ENSMUST00000217051]
|
| AlphaFold |
Q8BLI4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048010
AA Change: Y187*
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: Y187*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF4962
|
24 |
353 |
5.2e-11 |
PFAM |
|
low complexity region
|
558 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
815 |
N/A |
INTRINSIC |
|
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
|
transmembrane domain
|
935 |
952 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215547
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217051
AA Change: Y51*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
T |
6: 92,808,909 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,728,324 (GRCm39) |
N681S |
possibly damaging |
Het |
| Arpp19 |
T |
G |
9: 74,964,058 (GRCm39) |
S137A |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,896 (GRCm39) |
L149P |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,044,536 (GRCm39) |
M1T |
probably null |
Het |
| Btbd7 |
T |
C |
12: 102,760,038 (GRCm39) |
S637G |
probably benign |
Het |
| Cyp51 |
T |
A |
5: 4,149,244 (GRCm39) |
H211L |
possibly damaging |
Het |
| Cyth1 |
C |
A |
11: 118,059,958 (GRCm39) |
Q333H |
probably damaging |
Het |
| Dennd5a |
G |
A |
7: 109,533,991 (GRCm39) |
T67M |
possibly damaging |
Het |
| Dynlt3 |
A |
T |
X: 9,522,665 (GRCm39) |
Y76* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,778 (GRCm39) |
|
probably benign |
Het |
| Galr1 |
A |
T |
18: 82,424,118 (GRCm39) |
L53Q |
probably damaging |
Het |
| Igkv4-70 |
A |
T |
6: 69,244,911 (GRCm39) |
D103E |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,180,000 (GRCm39) |
N19S |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,828,476 (GRCm39) |
I477V |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,903,626 (GRCm39) |
S308P |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,562 (GRCm39) |
I299K |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,584,797 (GRCm39) |
I131N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,077,001 (GRCm39) |
V137A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,316,361 (GRCm39) |
V482E |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,246,108 (GRCm39) |
V162A |
probably benign |
Het |
| Phf8-ps |
C |
T |
17: 33,286,275 (GRCm39) |
V176M |
probably damaging |
Het |
| Plekhb1 |
A |
G |
7: 100,304,506 (GRCm39) |
V47A |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,258 (GRCm39) |
M418I |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,220,882 (GRCm39) |
F438L |
probably damaging |
Het |
| Slc38a5 |
G |
T |
X: 8,139,879 (GRCm39) |
V127L |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,834 (GRCm39) |
|
probably benign |
Het |
| Tdh |
A |
T |
14: 63,734,407 (GRCm39) |
H80Q |
probably benign |
Het |
| Tshz3 |
A |
C |
7: 36,469,893 (GRCm39) |
K627N |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,946,941 (GRCm39) |
P791S |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,332 (GRCm39) |
Y1686H |
probably damaging |
Het |
| Xpot |
G |
T |
10: 121,437,267 (GRCm39) |
|
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,889 (GRCm39) |
G627R |
probably damaging |
Het |
|
| Other mutations in Dse |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Dse
|
APN |
10 |
34,038,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01828:Dse
|
APN |
10 |
34,028,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01835:Dse
|
APN |
10 |
34,036,213 (GRCm39) |
splice site |
probably benign |
|
|
IGL01942:Dse
|
APN |
10 |
34,031,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02208:Dse
|
APN |
10 |
34,028,433 (GRCm39) |
missense |
probably benign |
|
|
IGL02306:Dse
|
APN |
10 |
34,036,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02504:Dse
|
APN |
10 |
34,028,796 (GRCm39) |
missense |
probably benign |
|
|
IGL02626:Dse
|
APN |
10 |
34,029,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02812:Dse
|
APN |
10 |
34,059,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Dse
|
UTSW |
10 |
34,029,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0018:Dse
|
UTSW |
10 |
34,029,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0131:Dse
|
UTSW |
10 |
34,029,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Dse
|
UTSW |
10 |
34,028,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Dse
|
UTSW |
10 |
34,029,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Dse
|
UTSW |
10 |
34,029,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Dse
|
UTSW |
10 |
34,029,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Dse
|
UTSW |
10 |
34,029,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1858:Dse
|
UTSW |
10 |
34,029,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1859:Dse
|
UTSW |
10 |
34,029,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1868:Dse
|
UTSW |
10 |
34,029,284 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1959:Dse
|
UTSW |
10 |
34,036,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Dse
|
UTSW |
10 |
34,031,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2325:Dse
|
UTSW |
10 |
34,060,043 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2883:Dse
|
UTSW |
10 |
34,028,503 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3436:Dse
|
UTSW |
10 |
34,028,470 (GRCm39) |
missense |
probably benign |
|
|
R3818:Dse
|
UTSW |
10 |
34,029,429 (GRCm39) |
missense |
probably benign |
|
|
R4158:Dse
|
UTSW |
10 |
34,029,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4159:Dse
|
UTSW |
10 |
34,029,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4160:Dse
|
UTSW |
10 |
34,029,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4229:Dse
|
UTSW |
10 |
34,038,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:Dse
|
UTSW |
10 |
34,028,632 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4667:Dse
|
UTSW |
10 |
34,029,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Dse
|
UTSW |
10 |
34,029,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Dse
|
UTSW |
10 |
34,029,584 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5154:Dse
|
UTSW |
10 |
34,029,657 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5573:Dse
|
UTSW |
10 |
34,028,678 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5804:Dse
|
UTSW |
10 |
34,029,375 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5844:Dse
|
UTSW |
10 |
34,029,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5895:Dse
|
UTSW |
10 |
34,028,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Dse
|
UTSW |
10 |
34,028,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6600:Dse
|
UTSW |
10 |
34,028,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7088:Dse
|
UTSW |
10 |
34,029,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7254:Dse
|
UTSW |
10 |
34,060,144 (GRCm39) |
start gained |
probably benign |
|
|
R7491:Dse
|
UTSW |
10 |
34,028,561 (GRCm39) |
missense |
probably benign |
|
|
R7989:Dse
|
UTSW |
10 |
34,029,454 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Dse
|
UTSW |
10 |
34,028,316 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8799:Dse
|
UTSW |
10 |
34,060,149 (GRCm39) |
start gained |
probably benign |
|
|
R8862:Dse
|
UTSW |
10 |
34,029,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation