Incidental Mutation 'IGL02306:Dse'
| ID |
287581 |
| 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: 0.205)
|
| Stock # |
IGL02306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34036130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 249
(E249K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000215547]
[ENSMUST00000217051]
|
| AlphaFold |
Q8BLI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048010
AA Change: E249K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: E249K
| 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 |
noncoding transcript
Transcript: ENSMUST00000216774
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217051
AA Change: E113K
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,952,044 (GRCm39) |
Y680C |
probably damaging |
Het |
| Abcb11 |
C |
T |
2: 69,095,801 (GRCm39) |
W846* |
probably null |
Het |
| Adam34 |
G |
A |
8: 44,103,522 (GRCm39) |
R708C |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,509,343 (GRCm39) |
L572Q |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,489 (GRCm39) |
Y138C |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,095,302 (GRCm39) |
F267Y |
probably benign |
Het |
| Car7 |
A |
G |
8: 105,275,630 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,379,471 (GRCm39) |
M509K |
probably benign |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,234,527 (GRCm39) |
G187D |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,018,701 (GRCm39) |
V555E |
possibly damaging |
Het |
| Cstf1 |
C |
T |
2: 172,214,891 (GRCm39) |
T4I |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,732,008 (GRCm39) |
K250E |
probably damaging |
Het |
| Deaf1 |
T |
C |
7: 140,904,094 (GRCm39) |
|
probably null |
Het |
| E4f1 |
G |
T |
17: 24,665,903 (GRCm39) |
R88S |
probably damaging |
Het |
| Fam83a |
A |
C |
15: 57,858,704 (GRCm39) |
D248A |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,826,437 (GRCm39) |
D217G |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,371,747 (GRCm39) |
L66Q |
probably null |
Het |
| Kalrn |
T |
C |
16: 34,130,897 (GRCm39) |
E440G |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,162,572 (GRCm39) |
Y527C |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Krtap29-1 |
A |
T |
11: 99,869,092 (GRCm39) |
V263E |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,703 (GRCm39) |
L72P |
probably damaging |
Het |
| Mylpf |
T |
A |
7: 126,812,330 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,306,025 (GRCm39) |
S292R |
possibly damaging |
Het |
| Nlrc3 |
A |
C |
16: 3,782,688 (GRCm39) |
D240E |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,890,497 (GRCm39) |
I7345N |
unknown |
Het |
| Or4c102 |
A |
T |
2: 88,422,950 (GRCm39) |
K267N |
probably benign |
Het |
| Ostn |
A |
T |
16: 27,165,691 (GRCm39) |
S127C |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,920,250 (GRCm39) |
K735E |
possibly damaging |
Het |
| Pde12 |
A |
G |
14: 26,389,533 (GRCm39) |
L392P |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,585 (GRCm39) |
I213V |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,183,059 (GRCm39) |
Y948F |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,456,353 (GRCm39) |
V71E |
probably damaging |
Het |
| Prlr |
C |
T |
15: 10,328,760 (GRCm39) |
P412S |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,287,447 (GRCm39) |
K196R |
probably benign |
Het |
| Rundc3a |
T |
A |
11: 102,291,764 (GRCm39) |
L387Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,664,459 (GRCm39) |
I1611V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,677,744 (GRCm39) |
|
probably null |
Het |
| Scart1 |
T |
C |
7: 139,803,269 (GRCm39) |
C278R |
probably damaging |
Het |
| Sfxn2 |
T |
A |
19: 46,578,987 (GRCm39) |
M240K |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,950,374 (GRCm39) |
S901P |
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,795,940 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
T |
G |
4: 130,258,893 (GRCm39) |
C100W |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,097,511 (GRCm39) |
D19E |
probably damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,703,914 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,219,365 (GRCm39) |
L231F |
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 |
|
IGL02047:Dse
|
APN |
10 |
34,038,841 (GRCm39) |
nonsense |
probably null |
|
|
IGL02208:Dse
|
APN |
10 |
34,028,433 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation