Incidental Mutation 'R1300:Dse'
ID |
158310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dse
|
Ensembl Gene |
ENSMUSG00000039497 |
Gene Name |
dermatan sulfate epimerase |
Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
MMRRC Submission |
039366-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R1300 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34028411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 893
(A893V)
|
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: A893V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000040074 Gene: ENSMUSG00000039497 AA Change: A893V
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,283,967 (GRCm39) |
I2535T |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,881 (GRCm39) |
Y114* |
probably null |
Het |
Ank3 |
A |
G |
10: 69,840,495 (GRCm39) |
I952V |
probably benign |
Het |
Ankar |
A |
C |
1: 72,682,323 (GRCm39) |
V1414G |
probably benign |
Het |
Arl2 |
A |
G |
19: 6,191,103 (GRCm39) |
M10T |
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,972,442 (GRCm39) |
I352T |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,274,419 (GRCm39) |
H2162L |
probably benign |
Het |
Cep170b |
A |
C |
12: 112,703,691 (GRCm39) |
M622L |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,119,552 (GRCm39) |
V337A |
probably benign |
Het |
Cpn2 |
T |
A |
16: 30,078,481 (GRCm39) |
T407S |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,870,333 (GRCm39) |
W263R |
probably damaging |
Het |
Crtc1 |
A |
G |
8: 70,840,189 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
C |
13: 113,502,694 (GRCm39) |
F133S |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,518,614 (GRCm39) |
I485N |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,101,692 (GRCm39) |
Q1892R |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,465,206 (GRCm39) |
S466A |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,377,651 (GRCm39) |
V419A |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,294,464 (GRCm39) |
V1125A |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,821,426 (GRCm39) |
G2576C |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,145,746 (GRCm39) |
D162E |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,959,454 (GRCm39) |
T165N |
probably benign |
Het |
Gm8674 |
T |
C |
13: 50,055,758 (GRCm39) |
|
noncoding transcript |
Het |
Gtsf2 |
T |
A |
15: 103,352,780 (GRCm39) |
L39F |
possibly damaging |
Het |
Hck |
A |
C |
2: 152,976,067 (GRCm39) |
D202A |
possibly damaging |
Het |
Il12b |
T |
A |
11: 44,298,903 (GRCm39) |
|
probably null |
Het |
Irf4 |
T |
C |
13: 30,941,568 (GRCm39) |
L307P |
probably damaging |
Het |
Keg1 |
G |
A |
19: 12,696,368 (GRCm39) |
R184Q |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,610,452 (GRCm39) |
D218G |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,029 (GRCm39) |
K1231E |
unknown |
Het |
Mapkbp1 |
T |
C |
2: 119,844,136 (GRCm39) |
Y293H |
probably benign |
Het |
Mfsd8 |
A |
T |
3: 40,778,333 (GRCm39) |
D310E |
probably benign |
Het |
Mmp9 |
A |
T |
2: 164,790,876 (GRCm39) |
D88V |
probably damaging |
Het |
Muc5ac |
G |
T |
7: 141,370,666 (GRCm39) |
C2522F |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,209,065 (GRCm39) |
I110F |
probably damaging |
Het |
Neu1 |
A |
T |
17: 35,153,314 (GRCm39) |
Y279F |
possibly damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,209 (GRCm39) |
H50R |
probably benign |
Het |
Nlrp3 |
C |
T |
11: 59,446,594 (GRCm39) |
S780F |
possibly damaging |
Het |
Npc1l1 |
T |
G |
11: 6,177,859 (GRCm39) |
D517A |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,114,951 (GRCm39) |
F111L |
probably benign |
Het |
Or1e32 |
T |
C |
11: 73,705,072 (GRCm39) |
T279A |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,667 (GRCm39) |
Y36C |
probably damaging |
Het |
Or52e3 |
G |
A |
7: 102,869,324 (GRCm39) |
R133Q |
probably benign |
Het |
P3h2 |
C |
A |
16: 25,815,986 (GRCm39) |
E176* |
probably null |
Het |
Parp10 |
C |
A |
15: 76,126,190 (GRCm39) |
D333Y |
possibly damaging |
Het |
Pcdhb12 |
C |
T |
18: 37,570,450 (GRCm39) |
A532V |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,159,611 (GRCm39) |
T818S |
possibly damaging |
Het |
Phf11 |
A |
T |
14: 59,488,563 (GRCm39) |
V78D |
probably damaging |
Het |
Phip |
A |
T |
9: 82,758,800 (GRCm39) |
L1450Q |
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,156,859 (GRCm39) |
E262G |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,706,014 (GRCm39) |
E19G |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,493,272 (GRCm39) |
I921T |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,101,908 (GRCm39) |
H106L |
probably benign |
Het |
Slc10a6 |
T |
C |
5: 103,754,550 (GRCm39) |
D327G |
probably benign |
Het |
Syt1 |
A |
T |
10: 108,467,682 (GRCm39) |
V205D |
possibly damaging |
Het |
Tep1 |
C |
T |
14: 51,064,512 (GRCm39) |
|
probably null |
Het |
Thnsl2 |
T |
A |
6: 71,111,175 (GRCm39) |
Q231L |
probably damaging |
Het |
Ttc4 |
T |
A |
4: 106,524,763 (GRCm39) |
H304L |
probably damaging |
Het |
Unc5c |
G |
A |
3: 141,534,304 (GRCm39) |
V923M |
possibly damaging |
Het |
Zfp777 |
T |
C |
6: 48,002,704 (GRCm39) |
E506G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCAGCCAAAGCCATTCTTACAC -3'
(R):5'- GATGCGGTTCCTGATATTTTCGCAC -3'
Sequencing Primer
(F):5'- TGGCGTTAGCACTGAGAC -3'
(R):5'- GTTCCTGATATTTTCGCACAGATTG -3'
|
Posted On |
2014-02-18 |