Incidental Mutation 'R1654:Dsel'
| ID |
188893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
DS-epi2, 9330132E09Rik |
| MMRRC Submission |
039690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R1654 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111790242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 98
(Y98N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035462
AA Change: Y98N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: Y98N
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
C |
T |
11: 109,688,225 (GRCm39) |
S90N |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,137,676 (GRCm39) |
T39I |
possibly damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,500,896 (GRCm39) |
R1118K |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,908,956 (GRCm39) |
D658G |
possibly damaging |
Het |
| Asph |
G |
T |
4: 9,453,315 (GRCm39) |
R736S |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,191,166 (GRCm39) |
G542E |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,744,279 (GRCm39) |
V183E |
probably damaging |
Het |
| C1rl |
G |
A |
6: 124,470,869 (GRCm39) |
G59E |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,273,411 (GRCm39) |
A1699D |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,128,214 (GRCm39) |
Q1061K |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,540 (GRCm39) |
C566F |
probably damaging |
Het |
| Cd84 |
C |
T |
1: 171,712,173 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cep63 |
T |
C |
9: 102,464,112 (GRCm39) |
I740V |
possibly damaging |
Het |
| Chaf1b |
C |
A |
16: 93,691,791 (GRCm39) |
A279D |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,488 (GRCm39) |
Y247F |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,466 (GRCm39) |
L509F |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,875,204 (GRCm39) |
Q558L |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,525,672 (GRCm39) |
L3894Q |
probably damaging |
Het |
| Dnmt1 |
G |
T |
9: 20,847,870 (GRCm39) |
T105N |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,716,139 (GRCm39) |
L1732Q |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,179,303 (GRCm39) |
N255S |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,848,814 (GRCm39) |
I375N |
possibly damaging |
Het |
| Epha4 |
T |
A |
1: 77,351,405 (GRCm39) |
|
probably null |
Het |
| Fktn |
A |
G |
4: 53,761,220 (GRCm39) |
I446V |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,895,678 (GRCm39) |
R322G |
probably benign |
Het |
| Gm7361 |
G |
T |
5: 26,466,097 (GRCm39) |
R153L |
probably damaging |
Het |
| Grin2c |
C |
T |
11: 115,151,679 (GRCm39) |
V94I |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,249,590 (GRCm39) |
K255E |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,570,787 (GRCm39) |
|
probably null |
Het |
| Lonp2 |
T |
G |
8: 87,358,078 (GRCm39) |
L100V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,912 (GRCm39) |
A482T |
probably damaging |
Het |
| Mapk4 |
A |
G |
18: 74,064,010 (GRCm39) |
F404S |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,747 (GRCm39) |
|
probably null |
Het |
| Medag |
T |
C |
5: 149,345,600 (GRCm39) |
Y94H |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,037,911 (GRCm39) |
L809P |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,734,421 (GRCm39) |
S743P |
probably damaging |
Het |
| Mia2 |
C |
A |
12: 59,155,619 (GRCm39) |
T445K |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,931 (GRCm39) |
|
probably null |
Het |
| Nars1 |
C |
G |
18: 64,645,120 (GRCm39) |
A43P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,984 (GRCm39) |
N431S |
possibly damaging |
Het |
| Ndufaf5 |
A |
G |
2: 140,019,220 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
G |
11: 71,072,124 (GRCm39) |
E573A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,433,949 (GRCm39) |
V4A |
probably benign |
Het |
| Or2y1d |
G |
A |
11: 49,321,329 (GRCm39) |
G9R |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,337,420 (GRCm39) |
Y66F |
probably benign |
Het |
| Or5ac15 |
T |
C |
16: 58,940,052 (GRCm39) |
N127S |
possibly damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,569,754 (GRCm39) |
D300V |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,968,083 (GRCm39) |
C804S |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,167,963 (GRCm39) |
Q725L |
probably damaging |
Het |
| Ptpre |
T |
A |
7: 135,255,657 (GRCm39) |
S119T |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,259,643 (GRCm39) |
R361H |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,024,268 (GRCm39) |
V193A |
probably benign |
Het |
| Rfx2 |
C |
T |
17: 57,115,263 (GRCm39) |
A19T |
probably benign |
Het |
| Rgs4 |
T |
A |
1: 169,572,880 (GRCm39) |
M19L |
probably benign |
Het |
| Rnf157 |
T |
C |
11: 116,249,541 (GRCm39) |
H225R |
probably damaging |
Het |
| Rnf44 |
A |
T |
13: 54,829,592 (GRCm39) |
D341E |
possibly damaging |
Het |
| Sct |
T |
A |
7: 140,858,767 (GRCm39) |
Q55L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,814,779 (GRCm39) |
H446L |
possibly damaging |
Het |
| Shisa3 |
A |
T |
5: 67,768,402 (GRCm39) |
I101F |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,313,885 (GRCm39) |
I543V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,634,738 (GRCm39) |
A1024V |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,509,521 (GRCm39) |
S330P |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,534,203 (GRCm39) |
A3487S |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,632,532 (GRCm39) |
S46G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,147,868 (GRCm39) |
V6469A |
possibly damaging |
Het |
| Tada2b |
C |
T |
5: 36,641,139 (GRCm39) |
G88D |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,570,937 (GRCm39) |
|
probably null |
Het |
| Tph2 |
T |
A |
10: 115,020,712 (GRCm39) |
H28L |
probably benign |
Het |
| Trmt6 |
C |
A |
2: 132,657,755 (GRCm39) |
V34L |
possibly damaging |
Het |
| Ttc22 |
A |
G |
4: 106,491,408 (GRCm39) |
T204A |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,206,942 (GRCm39) |
M778L |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,810,065 (GRCm39) |
H2282R |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,123 (GRCm39) |
S816R |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,969 (GRCm39) |
F2806L |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,995 (GRCm39) |
A906D |
probably damaging |
Het |
| Zscan29 |
A |
G |
2: 120,995,260 (GRCm39) |
V421A |
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 |
|
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'- TCCAGTAACCAAGGCCCCTATGAG -3'
(R):5'- TCTGAATGGGCAGTTTTCACAGACG -3'
Sequencing Primer
(F):5'- GGTGCATTCTCAACTAGCCAG -3'
(R):5'- GGGCAGTTTTCACAGACGATATAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation