Incidental Mutation 'R7064:Dsel'
| ID |
548424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
DS-epi2, 9330132E09Rik |
| MMRRC Submission |
045160-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to A
at 111790577 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,984,746 (GRCm39) |
I263T |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,278 (GRCm39) |
P830S |
possibly damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,456 (GRCm39) |
F218S |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,746,919 (GRCm39) |
|
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,986 (GRCm39) |
V244E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,419,181 (GRCm39) |
E757G |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,685,865 (GRCm39) |
D147G |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,810,134 (GRCm39) |
M92L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,791,983 (GRCm39) |
D2458G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,250,772 (GRCm39) |
I259V |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,077,218 (GRCm39) |
V250A |
probably benign |
Het |
| Cxxc1 |
T |
A |
18: 74,353,678 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
A |
T |
7: 26,011,732 (GRCm39) |
M318L |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,412,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Decr1 |
C |
A |
4: 15,945,392 (GRCm39) |
|
|
Het |
| Dmbx1 |
T |
C |
4: 115,775,465 (GRCm39) |
N272D |
probably damaging |
Het |
| Dspp |
A |
C |
5: 104,324,804 (GRCm39) |
D389A |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,544,049 (GRCm39) |
T52A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,839,557 (GRCm39) |
E2229G |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,472,803 (GRCm39) |
V127M |
probably damaging |
Het |
| Gpc2 |
A |
T |
5: 138,277,172 (GRCm39) |
F85Y |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,764 (GRCm39) |
L793S |
probably benign |
Het |
| Irag1 |
C |
G |
7: 110,495,061 (GRCm39) |
E455Q |
probably damaging |
Het |
| Itpr3 |
G |
C |
17: 27,308,269 (GRCm39) |
G298R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,038,261 (GRCm39) |
C1024S |
probably damaging |
Het |
| Krt40 |
T |
C |
11: 99,430,954 (GRCm39) |
Y185C |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,121,615 (GRCm39) |
D227N |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,965,524 (GRCm39) |
L1184* |
probably null |
Het |
| Or10s1 |
T |
A |
9: 39,986,109 (GRCm39) |
Y173N |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,634 (GRCm39) |
R227W |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,759,853 (GRCm39) |
M269L |
probably benign |
Het |
| Parp9 |
T |
G |
16: 35,774,042 (GRCm39) |
V338G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,446 (GRCm39) |
E888K |
possibly damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,585 (GRCm39) |
E862K |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,608,317 (GRCm39) |
T3040A |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,464 (GRCm39) |
E1026G |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,580 (GRCm39) |
R282* |
probably null |
Het |
| Rpgrip1l |
T |
A |
8: 91,990,148 (GRCm39) |
K765* |
probably null |
Het |
| Rprd2 |
G |
A |
3: 95,672,328 (GRCm39) |
T1025M |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,212,983 (GRCm39) |
Y1341H |
possibly damaging |
Het |
| Scn5a |
C |
G |
9: 119,318,977 (GRCm39) |
D1554H |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,870 (GRCm39) |
I102V |
probably benign |
Het |
| Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,925,834 (GRCm39) |
G291R |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,720 (GRCm39) |
V418A |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,076,078 (GRCm39) |
T24A |
possibly damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,955 (GRCm39) |
S368P |
probably benign |
Het |
| Stip1 |
T |
C |
19: 7,012,925 (GRCm39) |
D53G |
probably benign |
Het |
| Stk36 |
T |
C |
1: 74,649,979 (GRCm39) |
W245R |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,189,156 (GRCm39) |
|
probably null |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,194,288 (GRCm39) |
P1163S |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,186 (GRCm39) |
N263K |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,883,995 (GRCm39) |
M333V |
probably benign |
Het |
| Tmem45a |
T |
C |
16: 56,642,767 (GRCm39) |
M135V |
probably benign |
Het |
| Trmt13 |
T |
A |
3: 116,376,346 (GRCm39) |
K348N |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,070,868 (GRCm39) |
M534L |
probably damaging |
Het |
| Ttll13 |
G |
A |
7: 79,906,778 (GRCm39) |
R513K |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
| Washc3 |
T |
C |
10: 88,081,635 (GRCm39) |
V173A |
possibly damaging |
Het |
| Zc2hc1b |
A |
T |
10: 13,047,049 (GRCm39) |
C21S |
probably damaging |
Het |
| Zfp944 |
T |
A |
17: 22,558,560 (GRCm39) |
H229L |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,573 (GRCm39) |
I147N |
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 |
|
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 |
111,787,187 (GRCm39) |
missense |
probably benign |
|
|
R1729:Dsel
|
UTSW |
1 |
111,787,724 (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 |
111,787,724 (GRCm39) |
missense |
probably benign |
|
|
R1739:Dsel
|
UTSW |
1 |
111,787,187 (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 |
|
|
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'- GTGACTTAAGCCATTGTATATCGTCTG -3'
(R):5'- TGCATTGGAGACATTGGAGG -3'
Sequencing Primer
(F):5'- GTCTGTGAAAACTGCCCATTCAG -3'
(R):5'- TTATTGGAAGCAAACCTGTGCCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation