Incidental Mutation 'IGL01942:Dse'
| ID |
180876 |
| 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: 0.174)
|
| Stock # |
IGL01942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34031989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 345
(Q345L)
|
| 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: Q345L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: Q345L
| 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
AA Change: Q209L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
| Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
| Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
| Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
| Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,927 (GRCm39) |
C383Y |
probably damaging |
Het |
| Gnaz |
A |
G |
10: 74,850,706 (GRCm39) |
M244V |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
| Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
| Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
| Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pgap3 |
T |
C |
11: 98,288,780 (GRCm39) |
Y125C |
probably damaging |
Het |
| Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,801,874 (GRCm39) |
M127I |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
| Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
| Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,762,962 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
| Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,806 (GRCm39) |
M41K |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation