Incidental Mutation 'IGL03117:Dsel'
ID |
419497 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dsel
|
Ensembl Gene |
ENSMUSG00000038702 |
Gene Name |
dermatan sulfate epimerase-like |
Synonyms |
DS-epi2, 9330132E09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
IGL03117
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 111786908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
AlphaFold |
Q0VBN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035462
|
SMART Domains |
Protein: ENSMUSP00000043570 Gene: ENSMUSG00000038702
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
120 |
131 |
N/A |
INTRINSIC |
low complexity region
|
568 |
577 |
N/A |
INTRINSIC |
transmembrane domain
|
769 |
791 |
N/A |
INTRINSIC |
transmembrane domain
|
798 |
817 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_1
|
847 |
1201 |
2.1e-12 |
PFAM |
Pfam:Sulfotransfer_3
|
848 |
1143 |
1.7e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189731
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced epimerase activity in the skin, lung, liver, spleen, kidney and brain and reduced iduronic acid content in the brain and kidney chondroitin sulfate/dermatan sulfate. [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 |
Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
probably damaging |
Het |
|
Other mutations in Dsel |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01114:Dsel
|
APN |
1 |
111,787,791 (GRCm39) |
nonsense |
probably null |
|
IGL01562:Dsel
|
APN |
1 |
111,788,049 (GRCm39) |
missense |
probably benign |
|
IGL01591:Dsel
|
APN |
1 |
111,787,425 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01822:Dsel
|
APN |
1 |
111,789,626 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02289:Dsel
|
APN |
1 |
111,787,832 (GRCm39) |
nonsense |
probably null |
|
IGL02557:Dsel
|
APN |
1 |
111,790,300 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02805:Dsel
|
APN |
1 |
111,790,046 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02864:Dsel
|
APN |
1 |
111,786,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Dsel
|
APN |
1 |
111,788,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03092:Dsel
|
APN |
1 |
111,787,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03182:Dsel
|
APN |
1 |
111,787,868 (GRCm39) |
missense |
probably damaging |
0.99 |
rudolph
|
UTSW |
1 |
111,787,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R0196:Dsel
|
UTSW |
1 |
111,789,333 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0465:Dsel
|
UTSW |
1 |
111,789,992 (GRCm39) |
missense |
probably benign |
0.00 |
R0725:Dsel
|
UTSW |
1 |
111,787,682 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1024:Dsel
|
UTSW |
1 |
111,788,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R1147:Dsel
|
UTSW |
1 |
111,789,939 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1147:Dsel
|
UTSW |
1 |
111,789,939 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1654:Dsel
|
UTSW |
1 |
111,790,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1728:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R1729:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1729:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R1730:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R1730:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1735:Dsel
|
UTSW |
1 |
111,788,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R1739:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1762:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1762:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R1783:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1783:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R1785:Dsel
|
UTSW |
1 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
R1785:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R2049:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R2080:Dsel
|
UTSW |
1 |
111,787,692 (GRCm39) |
missense |
probably benign |
|
R2141:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R2142:Dsel
|
UTSW |
1 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
R2150:Dsel
|
UTSW |
1 |
111,787,987 (GRCm39) |
missense |
probably benign |
0.04 |
R4324:Dsel
|
UTSW |
1 |
111,789,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5378:Dsel
|
UTSW |
1 |
111,790,551 (GRCm39) |
start gained |
probably benign |
|
R5881:Dsel
|
UTSW |
1 |
111,787,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5919:Dsel
|
UTSW |
1 |
111,787,983 (GRCm39) |
missense |
probably benign |
|
R6820:Dsel
|
UTSW |
1 |
111,787,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R7003:Dsel
|
UTSW |
1 |
111,788,025 (GRCm39) |
missense |
probably benign |
|
R7064:Dsel
|
UTSW |
1 |
111,790,577 (GRCm39) |
start gained |
probably benign |
|
R7297:Dsel
|
UTSW |
1 |
111,789,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7346:Dsel
|
UTSW |
1 |
111,788,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7367:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7393:Dsel
|
UTSW |
1 |
111,789,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7974:Dsel
|
UTSW |
1 |
111,788,229 (GRCm39) |
missense |
probably benign |
0.00 |
R7978:Dsel
|
UTSW |
1 |
111,787,449 (GRCm39) |
nonsense |
probably null |
|
R8220:Dsel
|
UTSW |
1 |
111,789,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R8434:Dsel
|
UTSW |
1 |
111,789,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R8688:Dsel
|
UTSW |
1 |
111,790,468 (GRCm39) |
nonsense |
probably null |
|
R8819:Dsel
|
UTSW |
1 |
111,787,994 (GRCm39) |
missense |
probably benign |
0.11 |
R8820:Dsel
|
UTSW |
1 |
111,787,994 (GRCm39) |
missense |
probably benign |
0.11 |
R8923:Dsel
|
UTSW |
1 |
111,788,284 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9014:Dsel
|
UTSW |
1 |
111,788,509 (GRCm39) |
nonsense |
probably null |
|
R9196:Dsel
|
UTSW |
1 |
111,787,863 (GRCm39) |
missense |
probably benign |
0.01 |
R9384:Dsel
|
UTSW |
1 |
111,787,863 (GRCm39) |
nonsense |
probably null |
|
R9427:Dsel
|
UTSW |
1 |
111,787,425 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Dsel
|
UTSW |
1 |
111,786,940 (GRCm39) |
missense |
probably benign |
|
Z1177:Dsel
|
UTSW |
1 |
111,789,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |