Incidental Mutation 'R6290:Dse'
| ID |
508375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dse
|
| Ensembl Gene |
ENSMUSG00000039497 |
| Gene Name |
dermatan sulfate epimerase |
| Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
| MMRRC Submission |
044460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R6290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34028336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 918
(M918T)
|
| 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: M918T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: M918T
| 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: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
T |
A |
1: 173,289,681 (GRCm39) |
I208N |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
C |
10: 69,827,198 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,259,036 (GRCm39) |
E687G |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,890,068 (GRCm39) |
L649* |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,510,836 (GRCm39) |
G437S |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,119,688 (GRCm39) |
G349D |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,744,851 (GRCm39) |
Y315N |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Csrp2 |
T |
C |
10: 110,767,844 (GRCm39) |
C10R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,412 (GRCm39) |
N625D |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,201 (GRCm39) |
N4235S |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,896 (GRCm39) |
C265R |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,164,288 (GRCm39) |
T916N |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,691,332 (GRCm39) |
I389F |
probably benign |
Het |
| Eif2ak1 |
T |
A |
5: 143,821,617 (GRCm39) |
V311D |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,220,395 (GRCm39) |
M534K |
probably benign |
Het |
| Gpr182 |
A |
T |
10: 127,586,893 (GRCm39) |
F19L |
probably benign |
Het |
| Ifi214 |
T |
A |
1: 173,356,983 (GRCm39) |
D40V |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,264,351 (GRCm39) |
V121A |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,715,213 (GRCm39) |
S514T |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,013,601 (GRCm39) |
R785H |
possibly damaging |
Het |
| Naga |
T |
G |
15: 82,219,057 (GRCm39) |
D230A |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,230,761 (GRCm39) |
N70D |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,027,216 (GRCm39) |
Y199* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,477,359 (GRCm39) |
K165* |
probably null |
Het |
| Or1j20 |
C |
T |
2: 36,760,448 (GRCm39) |
P290L |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,970,576 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
T |
A |
6: 86,365,881 (GRCm39) |
K444N |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,242,084 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,544,011 (GRCm39) |
I335V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,440,956 (GRCm39) |
S71P |
probably damaging |
Het |
| Psg19 |
C |
T |
7: 18,528,014 (GRCm39) |
R243Q |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,517,769 (GRCm39) |
M382K |
possibly damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,885,106 (GRCm39) |
I478L |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,727,096 (GRCm39) |
N174K |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,465,586 (GRCm39) |
H278L |
possibly damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,910,701 (GRCm39) |
S315T |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,342,433 (GRCm39) |
Y137C |
probably damaging |
Het |
| Tapbpl |
T |
C |
6: 125,207,679 (GRCm39) |
D49G |
probably benign |
Het |
| Tbr1 |
T |
C |
2: 61,635,394 (GRCm39) |
S115P |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,549,918 (GRCm39) |
T516I |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,741,828 (GRCm39) |
L1351Q |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,815,884 (GRCm39) |
I166T |
probably benign |
Het |
| Tspan8 |
T |
A |
10: 115,663,729 (GRCm39) |
C22S |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,647,321 (GRCm39) |
S813P |
probably benign |
Het |
| U2af2 |
G |
T |
7: 5,078,683 (GRCm39) |
V421L |
probably benign |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,736 (GRCm39) |
S103P |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,873 (GRCm39) |
D911E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,428,809 (GRCm39) |
C486S |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,772 (GRCm39) |
|
probably null |
Het |
| Xirp1 |
T |
G |
9: 119,847,791 (GRCm39) |
E364A |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,057,634 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp385b |
C |
A |
2: 77,280,612 (GRCm39) |
V109F |
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 |
|
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 |
|
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'- GCTCAAGTAAATCTGGACGAGAC -3'
(R):5'- GCTCAGAGAGAACAGCCCATAG -3'
Sequencing Primer
(F):5'- AATACATGCATACATTTCCTGACCTC -3'
(R):5'- ATGAAAGACCTTTTGGATTTTGCTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation