Incidental Mutation 'R5573:Dse'
ID |
435783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dse
|
Ensembl Gene |
ENSMUSG00000039497 |
Gene Name |
dermatan sulfate epimerase |
Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
MMRRC Submission |
043128-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R5573 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34028678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 804
(R804L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000217051]
|
AlphaFold |
Q8BLI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048010
AA Change: R804L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000040074 Gene: ENSMUSG00000039497 AA Change: R804L
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
probably null |
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 |
R5154:Dse
|
UTSW |
10 |
34,029,657 (GRCm39) |
missense |
possibly damaging |
0.83 |
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'- GTCCAAAGCCACCTTTCACG -3'
(R):5'- CATTTTAAGCCCGTGTTCCAGC -3'
Sequencing Primer
(F):5'- ATGCTTCTCATATGTGACATCAGC -3'
(R):5'- CGTGTTCCAGCTGCTTGAGAAG -3'
|
Posted On |
2016-10-24 |