Incidental Mutation 'R4229:Dse'
ID |
320133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dse
|
Ensembl Gene |
ENSMUSG00000039497 |
Gene Name |
dermatan sulfate epimerase |
Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
MMRRC Submission |
041048-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R4229 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34038740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 221
(M221K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000215547]
[ENSMUST00000217051]
|
AlphaFold |
Q8BLI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048010
AA Change: M221K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040074 Gene: ENSMUSG00000039497 AA Change: M221K
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 |
probably benign
Transcript: ENSMUST00000215547
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217051
AA Change: M85K
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.1785 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
98% (42/43) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Aadac |
A |
G |
3: 59,939,234 (GRCm39) |
K3E |
possibly damaging |
Het |
Cdc14a |
A |
G |
3: 116,087,413 (GRCm39) |
S533P |
probably damaging |
Het |
Dsc3 |
G |
A |
18: 20,098,878 (GRCm39) |
T767I |
probably damaging |
Het |
Etfb |
C |
A |
7: 43,105,984 (GRCm39) |
R174S |
probably damaging |
Het |
Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
Gm27013 |
A |
T |
6: 130,654,308 (GRCm39) |
S385T |
possibly damaging |
Het |
Gsap |
A |
G |
5: 21,451,975 (GRCm39) |
D339G |
probably benign |
Het |
H2-T24 |
G |
A |
17: 36,325,721 (GRCm39) |
A290V |
probably benign |
Het |
Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
Lipk |
A |
G |
19: 33,997,687 (GRCm39) |
Y56C |
probably damaging |
Het |
Mrpl21 |
A |
G |
19: 3,336,901 (GRCm39) |
I91V |
probably damaging |
Het |
Nin |
T |
C |
12: 70,097,984 (GRCm39) |
E492G |
probably damaging |
Het |
Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
Or1e1 |
A |
T |
11: 73,245,058 (GRCm39) |
T160S |
probably damaging |
Het |
Or4k36 |
A |
G |
2: 111,146,681 (GRCm39) |
I286V |
probably damaging |
Het |
Or4p18 |
T |
A |
2: 88,233,227 (GRCm39) |
Q17L |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
Plaur |
T |
C |
7: 24,166,208 (GRCm39) |
V93A |
probably damaging |
Het |
Ptprv |
C |
A |
1: 135,053,945 (GRCm39) |
|
noncoding transcript |
Het |
Rabep1 |
A |
G |
11: 70,799,260 (GRCm39) |
T295A |
probably benign |
Het |
Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
Set |
A |
G |
2: 29,959,531 (GRCm39) |
Y139C |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
Tmc3 |
T |
C |
7: 83,246,610 (GRCm39) |
|
probably benign |
Het |
Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
Zfp148 |
A |
G |
16: 33,255,133 (GRCm39) |
E41G |
probably benign |
Het |
Zfp677 |
T |
C |
17: 21,618,544 (GRCm39) |
S534P |
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 |
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'- CTCAAAGATGCCCTGAATGC -3'
(R):5'- TTGGGATGAAGTTCCACTTGCC -3'
Sequencing Primer
(F):5'- GCCCTGAATGCAATTTCATCTGTAG -3'
(R):5'- GGGTTTCGCCACTGCATATGAC -3'
|
Posted On |
2015-06-12 |