Incidental Mutation 'R5154:Dse'
| ID |
396586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dse
|
| Ensembl Gene |
ENSMUSG00000039497 |
| Gene Name |
dermatan sulfate epimerase |
| Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
| MMRRC Submission |
042736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R5154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34029657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 478
(T478S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000217051]
|
| AlphaFold |
Q8BLI4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048010
AA Change: T478S
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: T478S
| 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: ENSMUST00000216774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217051
AA Change: T342S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,938 (GRCm39) |
H48P |
probably damaging |
Het |
| Angptl7 |
C |
T |
4: 148,581,882 (GRCm39) |
R168H |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,619,878 (GRCm39) |
F1325V |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,694,297 (GRCm39) |
D266G |
possibly damaging |
Het |
| Apold1 |
A |
T |
6: 134,960,636 (GRCm39) |
H30L |
possibly damaging |
Het |
| Arel1 |
A |
G |
12: 84,978,547 (GRCm39) |
F362L |
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,771,455 (GRCm39) |
M1254K |
probably benign |
Het |
| Arid2 |
T |
A |
15: 96,299,866 (GRCm39) |
V1793E |
probably damaging |
Het |
| Bcl7a |
T |
C |
5: 123,507,422 (GRCm39) |
S156P |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,482,027 (GRCm39) |
I128V |
probably benign |
Het |
| Cct6b |
G |
A |
11: 82,630,521 (GRCm39) |
P299L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,282 (GRCm39) |
N443Y |
probably damaging |
Het |
| Cd80 |
A |
G |
16: 38,294,342 (GRCm39) |
K75R |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,176,298 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,983,755 (GRCm39) |
F1565I |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,942,694 (GRCm39) |
T412A |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,126,464 (GRCm39) |
L1590P |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,522,053 (GRCm39) |
R845S |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Cnnm2 |
A |
T |
19: 46,751,571 (GRCm39) |
R454W |
probably benign |
Het |
| Cpne8 |
T |
G |
15: 90,384,121 (GRCm39) |
I480L |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,754 (GRCm39) |
W400R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,537,167 (GRCm39) |
L528P |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,177 (GRCm39) |
V119M |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,571,320 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,551,642 (GRCm39) |
K2881N |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,946,008 (GRCm39) |
I288F |
probably damaging |
Het |
| Edn1 |
C |
T |
13: 42,458,499 (GRCm39) |
T104I |
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
G |
1: 185,145,662 (GRCm39) |
H1157R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,857,180 (GRCm39) |
T179I |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,775,131 (GRCm39) |
V210A |
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,085,081 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
| Gpr141 |
C |
T |
13: 19,936,412 (GRCm39) |
R121K |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,089,583 (GRCm39) |
I281N |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,371 (GRCm39) |
Y289* |
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,380,808 (GRCm39) |
V214G |
probably benign |
Het |
| Igf2bp1 |
G |
A |
11: 95,854,373 (GRCm39) |
Q563* |
probably null |
Het |
| Il31ra |
T |
A |
13: 112,660,531 (GRCm39) |
D605V |
possibly damaging |
Het |
| Insm2 |
G |
A |
12: 55,646,982 (GRCm39) |
C242Y |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,322,868 (GRCm39) |
V121I |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,278,994 (GRCm39) |
L48F |
possibly damaging |
Het |
| Kit |
G |
A |
5: 75,801,200 (GRCm39) |
V529M |
probably damaging |
Het |
| Mark2 |
G |
A |
19: 7,260,439 (GRCm39) |
P13S |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,479 (GRCm39) |
V364A |
probably damaging |
Het |
| Mtmr11 |
C |
G |
3: 96,071,636 (GRCm39) |
S185R |
probably benign |
Het |
| Myot |
A |
G |
18: 44,487,281 (GRCm39) |
I373V |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,139 (GRCm39) |
V231D |
probably benign |
Het |
| Or5t17 |
T |
C |
2: 86,832,382 (GRCm39) |
V23A |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,121 (GRCm39) |
Y278* |
probably null |
Het |
| Pdcd6ip |
A |
G |
9: 113,520,610 (GRCm39) |
F125L |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,095,051 (GRCm39) |
Q124L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,193,763 (GRCm39) |
N1398K |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,482,122 (GRCm39) |
D97E |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,647,880 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
C |
15: 8,672,433 (GRCm39) |
I349V |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,142,939 (GRCm39) |
*502R |
probably null |
Het |
| Slc9b1 |
T |
C |
3: 135,078,940 (GRCm39) |
I199T |
probably damaging |
Het |
| Spart |
C |
T |
3: 55,024,750 (GRCm39) |
P115L |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 99,006,813 (GRCm39) |
C205S |
possibly damaging |
Het |
| Tubb1 |
T |
A |
2: 174,298,657 (GRCm39) |
I113N |
probably benign |
Het |
| Tyrp1 |
G |
A |
4: 80,768,954 (GRCm39) |
V483I |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,215,757 (GRCm39) |
S100G |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,527,207 (GRCm39) |
I1035F |
probably damaging |
Het |
| Zfp618 |
G |
T |
4: 63,051,446 (GRCm39) |
K742N |
probably damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,025 (GRCm39) |
V252A |
possibly 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 |
|
|
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 |
|
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'- AATGTGCTTCAGGTTGAGCATG -3'
(R):5'- ACTTGGAGGGCGTGCAATATATG -3'
Sequencing Primer
(F):5'- CATGGGGTTATATGCTCCTACGC -3'
(R):5'- AGGGCGTGCAATATATGACATTGTTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation