Incidental Mutation 'IGL02626:Dse'
| ID |
301076 |
| 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 # |
IGL02626
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34029158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 644
(T644I)
|
| 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: T644I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: T644I
| 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 |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,810 (GRCm39) |
K1236E |
probably damaging |
Het |
| Actl7a |
A |
T |
4: 56,744,353 (GRCm39) |
E293D |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,667,082 (GRCm39) |
Y460H |
probably damaging |
Het |
| Aoc1 |
G |
A |
6: 48,883,044 (GRCm39) |
V307I |
probably benign |
Het |
| Ar |
C |
T |
X: 97,358,492 (GRCm39) |
H756Y |
probably damaging |
Het |
| Atg3 |
C |
T |
16: 45,004,048 (GRCm39) |
R224W |
probably benign |
Het |
| Atp5po |
G |
A |
16: 91,483,201 (GRCm39) |
P47S |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,311,054 (GRCm39) |
E43G |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,934,059 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,179,736 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
T |
A |
5: 18,002,126 (GRCm39) |
R292* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,227,580 (GRCm39) |
D1167G |
probably damaging |
Het |
| Cdk5rap1 |
A |
G |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
| Chd6 |
A |
G |
2: 160,881,270 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,826,519 (GRCm39) |
Y961F |
probably damaging |
Het |
| Cpe |
T |
C |
8: 65,145,829 (GRCm39) |
E52G |
probably benign |
Het |
| Cpne5 |
C |
T |
17: 29,379,311 (GRCm39) |
G491S |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,567,503 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
T |
A |
7: 132,600,940 (GRCm39) |
T608S |
probably benign |
Het |
| Cybb |
A |
G |
X: 9,335,439 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
C |
17: 49,797,282 (GRCm39) |
T168A |
possibly damaging |
Het |
| Dnah5 |
G |
T |
15: 28,307,422 (GRCm39) |
V1717F |
possibly damaging |
Het |
| Dtd2 |
A |
C |
12: 52,051,708 (GRCm39) |
Y45* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,509 (GRCm39) |
M124K |
probably benign |
Het |
| Flii |
T |
C |
11: 60,610,685 (GRCm39) |
D537G |
probably benign |
Het |
| Fntb |
T |
A |
12: 76,944,145 (GRCm39) |
I217N |
probably benign |
Het |
| Foxi1 |
A |
G |
11: 34,155,860 (GRCm39) |
S257P |
probably benign |
Het |
| Fyn |
G |
A |
10: 39,402,798 (GRCm39) |
R190H |
probably damaging |
Het |
| Gm28557 |
T |
A |
13: 67,223,008 (GRCm39) |
T8S |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,209,306 (GRCm39) |
K873E |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,895,503 (GRCm39) |
T329A |
probably benign |
Het |
| Haus5 |
A |
G |
7: 30,356,675 (GRCm39) |
L477P |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,491,944 (GRCm39) |
E3761V |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,421,840 (GRCm39) |
I930V |
probably benign |
Het |
| Itprid1 |
T |
A |
6: 55,945,631 (GRCm39) |
V784D |
probably benign |
Het |
| Izumo2 |
A |
G |
7: 44,358,560 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,053,257 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
G |
16: 48,436,123 (GRCm39) |
S753G |
probably damaging |
Het |
| Mpzl2 |
C |
T |
9: 44,955,590 (GRCm39) |
T167I |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,926,532 (GRCm39) |
I491N |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 113,025,951 (GRCm39) |
I33N |
unknown |
Het |
| Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,531 (GRCm39) |
M84V |
probably damaging |
Het |
| Or4f58 |
A |
T |
2: 111,851,458 (GRCm39) |
V247E |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,068 (GRCm39) |
N314D |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,784 (GRCm39) |
L104S |
probably benign |
Het |
| Ralyl |
A |
T |
3: 13,842,094 (GRCm39) |
M77L |
probably benign |
Het |
| Rap1gap |
T |
A |
4: 137,454,364 (GRCm39) |
V649E |
probably benign |
Het |
| Rnf40 |
C |
A |
7: 127,195,744 (GRCm39) |
Q663K |
probably damaging |
Het |
| Slc22a18 |
T |
C |
7: 143,052,837 (GRCm39) |
L354P |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,309,597 (GRCm39) |
|
probably benign |
Het |
| Surf4 |
C |
T |
2: 26,815,619 (GRCm39) |
|
probably null |
Het |
| T |
A |
T |
17: 8,654,069 (GRCm39) |
N85Y |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,630,216 (GRCm39) |
E732G |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,649 (GRCm39) |
V199A |
possibly damaging |
Het |
| Trim43b |
T |
C |
9: 88,967,541 (GRCm39) |
Y365C |
possibly damaging |
Het |
| Ubd |
T |
C |
17: 37,506,573 (GRCm39) |
L153P |
probably damaging |
Het |
| Xpnpep2 |
A |
C |
X: 47,215,786 (GRCm39) |
M513L |
probably benign |
Het |
| Zar1l |
C |
T |
5: 150,441,210 (GRCm39) |
G139R |
probably damaging |
Het |
| Zc3hav1 |
T |
G |
6: 38,309,926 (GRCm39) |
T299P |
probably damaging |
Het |
| Zfp236 |
C |
A |
18: 82,676,120 (GRCm39) |
|
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 |
|
|
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