Incidental Mutation 'R0465:Dsel'
| ID |
41548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
DS-epi2, 9330132E09Rik |
| MMRRC Submission |
038665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0465 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111789992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 181
(N181S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035462
AA Change: N181S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: N181S
| 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
|
| Meta Mutation Damage Score |
0.0582 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
A |
17: 56,092,137 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,101,366 (GRCm39) |
V446I |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,046,535 (GRCm39) |
G441D |
possibly damaging |
Het |
| Bdkrb2 |
A |
T |
12: 105,558,118 (GRCm39) |
N120Y |
possibly damaging |
Het |
| Bud31 |
G |
A |
5: 145,083,396 (GRCm39) |
V80I |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,738,950 (GRCm39) |
F225L |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,171,142 (GRCm39) |
M200T |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,737,318 (GRCm39) |
L767P |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,143,019 (GRCm39) |
R237S |
probably damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,956,043 (GRCm39) |
R1093C |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,886 (GRCm39) |
V195E |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,945,872 (GRCm39) |
F936S |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,345 (GRCm39) |
N93S |
probably benign |
Het |
| Dnai1 |
T |
A |
4: 41,629,988 (GRCm39) |
|
probably null |
Het |
| Enpp7 |
A |
G |
11: 118,879,607 (GRCm39) |
N87S |
probably damaging |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,673,312 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gm5592 |
T |
A |
7: 40,805,481 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
G |
16: 26,781,702 (GRCm39) |
N109T |
probably damaging |
Het |
| Gstcd |
A |
G |
3: 132,688,905 (GRCm39) |
I615T |
probably benign |
Het |
| Hal |
A |
C |
10: 93,352,146 (GRCm39) |
K646Q |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,227,940 (GRCm39) |
I472V |
probably null |
Het |
| Ift27 |
A |
T |
15: 78,057,958 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
T |
6: 24,503,783 (GRCm39) |
I163N |
probably damaging |
Het |
| Isg20l2 |
T |
A |
3: 87,838,987 (GRCm39) |
V66E |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,870,582 (GRCm39) |
M137T |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,277,920 (GRCm39) |
K475* |
probably null |
Het |
| Lyve1 |
A |
G |
7: 110,452,034 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,766,264 (GRCm39) |
D220G |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,204 (GRCm39) |
|
probably benign |
Het |
| Mmp15 |
T |
C |
8: 96,094,626 (GRCm39) |
W167R |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,149,957 (GRCm39) |
C135R |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,101,243 (GRCm39) |
H673R |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,873,120 (GRCm39) |
I645T |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,092,042 (GRCm39) |
F96Y |
possibly damaging |
Het |
| Pard3b |
T |
G |
1: 62,250,877 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
A |
4: 98,423,744 (GRCm39) |
|
probably null |
Het |
| Pcare |
A |
G |
17: 72,057,155 (GRCm39) |
C841R |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Rab34 |
C |
A |
11: 78,081,337 (GRCm39) |
C67* |
probably null |
Het |
| Rimbp3 |
T |
C |
16: 17,029,644 (GRCm39) |
S1023P |
possibly damaging |
Het |
| Rnf148 |
T |
C |
6: 23,654,684 (GRCm39) |
N104S |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,203,921 (GRCm39) |
T288A |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,340 (GRCm39) |
L976P |
probably damaging |
Het |
| Serpina12 |
T |
A |
12: 104,004,104 (GRCm39) |
D176V |
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,073,996 (GRCm39) |
V10I |
possibly damaging |
Het |
| Sntb1 |
C |
A |
15: 55,612,672 (GRCm39) |
R302L |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,547,321 (GRCm39) |
I56T |
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,039 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
T |
9: 42,270,714 (GRCm39) |
I1198K |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,481,130 (GRCm39) |
R369C |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 99,021,142 (GRCm39) |
I79T |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,980,100 (GRCm39) |
N895Y |
probably benign |
Het |
| Ube2u |
T |
A |
4: 100,389,293 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
| Vmn2r100 |
G |
A |
17: 19,751,792 (GRCm39) |
V612I |
probably damaging |
Het |
| Vmn2r59 |
G |
T |
7: 41,696,332 (GRCm39) |
H137N |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,116,866 (GRCm39) |
V467A |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,215,805 (GRCm39) |
|
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,528,578 (GRCm39) |
D139E |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,494,159 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,310,716 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,509,413 (GRCm39) |
|
probably benign |
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 |
|
IGL03117:Dsel
|
APN |
1 |
111,786,908 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGCTAACCAATTTCCAGCTCC -3'
(R):5'- ATGCCCAGAAGACAAGGTTGCC -3'
Sequencing Primer
(F):5'- GAGGTATAGCTTCCATAGGCCAC -3'
(R):5'- ACAAGGTTGCCTTTGAATTTGTTATG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation