Incidental Mutation 'R2325:Dse'
| ID |
244889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dse
|
| Ensembl Gene |
ENSMUSG00000039497 |
| Gene Name |
dermatan sulfate epimerase |
| Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34060043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 21
(S21T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000215547]
|
| AlphaFold |
Q8BLI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048010
AA Change: S21T
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: S21T
| 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 |
noncoding transcript
Transcript: ENSMUST00000213617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215547
AA Change: S21T
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216194
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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 |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTACTCCTTGGGATCCC -3'
(R):5'- AGGAAGTGAGATCCCTGTCTACTG -3'
Sequencing Primer
(F):5'- GTTAGTCAACATGGTATGCACAGCC -3'
(R):5'- GTGTGCTTCTACCAGGCATGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation