Incidental Mutation 'R5895:Dse'
ID |
457458 |
Institutional Source |
Beutler Lab
|
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 # |
R5895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34028601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 830
(I830F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000217051]
|
AlphaFold |
Q8BLI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048010
AA Change: I830F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040074 Gene: ENSMUSG00000039497 AA Change: I830F
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
|
Meta Mutation Damage Score |
0.4113 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.7%
|
Validation Efficiency |
98% (64/65) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,752,216 (GRCm39) |
G426S |
probably damaging |
Het |
Casp4 |
A |
T |
9: 5,328,573 (GRCm39) |
|
probably benign |
Het |
Ccdc40 |
T |
A |
11: 119,144,229 (GRCm39) |
F988Y |
probably damaging |
Het |
Ccdc9b |
T |
C |
2: 118,590,098 (GRCm39) |
T249A |
probably benign |
Het |
Chd5 |
T |
A |
4: 152,464,389 (GRCm39) |
V1516E |
probably benign |
Het |
Chrnd |
T |
A |
1: 87,123,389 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
A |
9: 20,683,738 (GRCm39) |
G1506V |
unknown |
Het |
Csgalnact2 |
A |
T |
6: 118,106,215 (GRCm39) |
C34* |
probably null |
Het |
Ddx23 |
T |
C |
15: 98,549,832 (GRCm39) |
K195E |
probably benign |
Het |
Dhps |
T |
G |
8: 85,800,880 (GRCm39) |
S240A |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,234,599 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
C |
1: 80,514,676 (GRCm39) |
T1414A |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,805,812 (GRCm39) |
D928G |
probably damaging |
Het |
Dolpp1 |
T |
C |
2: 30,285,658 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
C |
T |
9: 53,843,091 (GRCm39) |
R29Q |
probably damaging |
Het |
Ephx4 |
T |
A |
5: 107,577,518 (GRCm39) |
|
probably null |
Het |
Evi5 |
A |
T |
5: 107,968,302 (GRCm39) |
M215K |
probably damaging |
Het |
Fbxl4 |
T |
C |
4: 22,390,678 (GRCm39) |
L287P |
probably damaging |
Het |
Gbp9 |
G |
A |
5: 105,230,724 (GRCm39) |
S400L |
probably damaging |
Het |
Gm6291 |
T |
C |
18: 6,371,365 (GRCm39) |
|
noncoding transcript |
Het |
Gmcl1 |
A |
T |
6: 86,688,596 (GRCm39) |
D301E |
probably benign |
Het |
Gna14 |
C |
T |
19: 16,580,692 (GRCm39) |
R177C |
possibly damaging |
Het |
Golph3 |
C |
T |
15: 12,339,756 (GRCm39) |
R90C |
probably damaging |
Het |
Gpr142 |
T |
A |
11: 114,689,785 (GRCm39) |
C12* |
probably null |
Het |
Hat1 |
T |
A |
2: 71,239,357 (GRCm39) |
N43K |
possibly damaging |
Het |
Hivep1 |
A |
T |
13: 42,310,694 (GRCm39) |
E978V |
possibly damaging |
Het |
Hormad1 |
G |
A |
3: 95,467,044 (GRCm39) |
|
probably null |
Het |
Kalrn |
C |
T |
16: 33,795,805 (GRCm39) |
|
probably benign |
Het |
Mars1 |
T |
C |
10: 127,132,418 (GRCm39) |
T860A |
probably benign |
Het |
Mdn1 |
A |
T |
4: 32,695,400 (GRCm39) |
L1146F |
probably damaging |
Het |
Met |
A |
G |
6: 17,531,581 (GRCm39) |
T620A |
probably benign |
Het |
Mppe1 |
T |
C |
18: 67,358,834 (GRCm39) |
E378G |
probably benign |
Het |
Mybpc3 |
T |
A |
2: 90,955,010 (GRCm39) |
V481D |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,256,133 (GRCm39) |
L1924Q |
probably damaging |
Het |
Mylip |
G |
T |
13: 45,562,178 (GRCm39) |
E327* |
probably null |
Het |
Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,452,500 (GRCm39) |
V187A |
possibly damaging |
Het |
Ncam1 |
T |
A |
9: 49,418,343 (GRCm39) |
T986S |
probably benign |
Het |
Or13p4 |
T |
C |
4: 118,547,314 (GRCm39) |
I112V |
probably damaging |
Het |
Or4x13 |
T |
C |
2: 90,231,800 (GRCm39) |
I265T |
probably benign |
Het |
Phactr2 |
C |
T |
10: 13,121,261 (GRCm39) |
G480S |
probably damaging |
Het |
Por |
A |
G |
5: 135,744,838 (GRCm39) |
I34V |
probably benign |
Het |
Ppp2r5b |
C |
T |
19: 6,284,764 (GRCm39) |
R33H |
probably damaging |
Het |
Prkdc |
C |
A |
16: 15,570,693 (GRCm39) |
Y2325* |
probably null |
Het |
Prx |
A |
G |
7: 27,214,709 (GRCm39) |
E73G |
probably damaging |
Het |
Rbms2 |
C |
A |
10: 127,981,556 (GRCm39) |
A126S |
possibly damaging |
Het |
Rhoq |
C |
T |
17: 87,302,117 (GRCm39) |
A111V |
probably damaging |
Het |
Rpl14 |
T |
A |
9: 120,403,240 (GRCm39) |
|
probably benign |
Het |
Serbp1 |
A |
G |
6: 67,249,870 (GRCm39) |
*75W |
probably null |
Het |
Sptbn1 |
C |
A |
11: 30,073,978 (GRCm39) |
V1351F |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,401,979 (GRCm39) |
V897A |
probably benign |
Het |
Tfdp1 |
T |
A |
8: 13,407,038 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,780,487 (GRCm39) |
Y1088F |
probably damaging |
Het |
Vmn2r105 |
G |
T |
17: 20,448,929 (GRCm39) |
Q83K |
probably benign |
Het |
Wdr76 |
A |
T |
2: 121,359,323 (GRCm39) |
S221C |
probably damaging |
Het |
Zfhx2 |
G |
T |
14: 55,303,348 (GRCm39) |
F1545L |
probably benign |
Het |
Zfp318 |
A |
G |
17: 46,709,959 (GRCm39) |
I561V |
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 |
|
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 |
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'- GTTGTGACTTGTCACCATCCG -3'
(R):5'- AGCAGATCCTATCTCGAGTCC -3'
Sequencing Primer
(F):5'- GTCACCATCCGCACCTG -3'
(R):5'- CTAGCTTTAGAAAGACTGCCGAGC -3'
|
Posted On |
2017-02-15 |