Incidental Mutation 'R1736:Dse'
| ID |
199726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dse
|
| Ensembl Gene |
ENSMUSG00000039497 |
| Gene Name |
dermatan sulfate epimerase |
| Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
| MMRRC Submission |
039768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R1736 (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 34029145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 648
(N648K)
|
| 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: N648K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: N648K
| 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
|
| Meta Mutation Damage Score |
0.3703 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (57/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,250,998 (GRCm39) |
N586D |
possibly damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,689 (GRCm39) |
|
probably null |
Het |
| Ankrd66 |
T |
C |
17: 43,854,409 (GRCm39) |
D41G |
probably benign |
Het |
| Atp8b2 |
G |
A |
3: 89,860,001 (GRCm39) |
P339S |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,811,820 (GRCm39) |
V1297I |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,064,192 (GRCm39) |
D781E |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,797,004 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,706,781 (GRCm39) |
Y2111H |
unknown |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,197 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,376,966 (GRCm39) |
K1584E |
probably benign |
Het |
| Ezh2 |
A |
T |
6: 47,553,594 (GRCm39) |
M41K |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,852 (GRCm39) |
G466S |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,153 (GRCm39) |
S520P |
probably damaging |
Het |
| Gm15217 |
A |
G |
14: 46,620,663 (GRCm39) |
|
probably benign |
Het |
| Gm9696 |
T |
C |
3: 59,879,696 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
G |
A |
11: 103,570,076 (GRCm39) |
Q162* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,487,593 (GRCm39) |
H3529Q |
possibly damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,495,525 (GRCm39) |
I4074K |
probably damaging |
Het |
| Ly6g2 |
G |
A |
15: 75,089,569 (GRCm39) |
G26R |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,747,429 (GRCm39) |
D555G |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,538,312 (GRCm39) |
I341T |
probably damaging |
Het |
| Mrnip |
G |
A |
11: 50,067,718 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,412,844 (GRCm39) |
C1930Y |
unknown |
Het |
| Nfatc3 |
T |
G |
8: 106,805,482 (GRCm39) |
I109S |
probably damaging |
Het |
| Npas1 |
G |
T |
7: 16,208,541 (GRCm39) |
A112D |
probably benign |
Het |
| Npffr2 |
T |
A |
5: 89,715,925 (GRCm39) |
I84N |
probably damaging |
Het |
| Nxph4 |
T |
A |
10: 127,362,465 (GRCm39) |
H142L |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,378,294 (GRCm39) |
|
probably benign |
Het |
| Per3 |
A |
G |
4: 151,093,705 (GRCm39) |
|
probably null |
Het |
| Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,160,108 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
G |
A |
2: 168,594,555 (GRCm39) |
P420L |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,855,046 (GRCm39) |
K252R |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,703,914 (GRCm39) |
Y692* |
probably null |
Het |
| Sema3e |
C |
T |
5: 14,260,390 (GRCm39) |
T181M |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,540,464 (GRCm39) |
I986V |
probably benign |
Het |
| Shisa4 |
A |
T |
1: 135,299,700 (GRCm39) |
Y194* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,311,333 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
G |
7: 117,765,190 (GRCm39) |
|
probably null |
Het |
| Smim7 |
C |
T |
8: 73,324,849 (GRCm39) |
G9R |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,874,311 (GRCm39) |
G1075R |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,302,771 (GRCm39) |
|
probably benign |
Het |
| Tbce |
A |
G |
13: 14,184,227 (GRCm39) |
I217T |
possibly damaging |
Het |
| Tpk1 |
G |
A |
6: 43,588,284 (GRCm39) |
P27S |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,797 (GRCm39) |
I2V |
probably benign |
Het |
| Tulp4 |
T |
G |
17: 6,283,490 (GRCm39) |
V1173G |
possibly damaging |
Het |
| Uchl1 |
T |
C |
5: 66,834,417 (GRCm39) |
|
probably null |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,492 (GRCm39) |
Q180L |
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 |
|
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 |
|
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'- ACCTGTGCGAAAGCAGAATGCC -3'
(R):5'- TTGTAGACCAGATCCACCTGGGAG -3'
Sequencing Primer
(F):5'- AGCAGAATGCCCTGTGTTCTC -3'
(R):5'- GAGACAGCAGCAAGTTTCTTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation