Incidental Mutation 'R7003:Dsel'
| ID |
544640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
DS-epi2, 9330132E09Rik |
| MMRRC Submission |
045108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R7003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111788025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 837
(V837I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035462
AA Change: V837I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: V837I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,490 (GRCm39) |
I275N |
probably damaging |
Het |
| Actr3b |
A |
C |
5: 26,003,461 (GRCm39) |
Y21S |
probably damaging |
Het |
| Adam6b |
C |
T |
12: 113,453,662 (GRCm39) |
Q160* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,670,223 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,504,514 (GRCm39) |
N300D |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,082,416 (GRCm39) |
D170G |
possibly damaging |
Het |
| Amhr2 |
A |
G |
15: 102,354,768 (GRCm39) |
N40S |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,209,109 (GRCm39) |
N767S |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,274,839 (GRCm39) |
I358T |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,620,508 (GRCm39) |
S732P |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,610,837 (GRCm39) |
Y327C |
possibly damaging |
Het |
| Bcr |
T |
C |
10: 74,897,393 (GRCm39) |
V179A |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,078,018 (GRCm39) |
L642P |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,486,513 (GRCm39) |
S1302R |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 118,111,727 (GRCm39) |
F153L |
probably benign |
Het |
| Cplane1 |
T |
G |
15: 8,258,246 (GRCm39) |
L2164R |
probably damaging |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,521 (GRCm39) |
D97G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,236,899 (GRCm39) |
T396S |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,810,695 (GRCm39) |
T926I |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,173,961 (GRCm39) |
I816T |
probably damaging |
Het |
| Hpn |
C |
T |
7: 30,810,367 (GRCm39) |
|
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,287,877 (GRCm39) |
S640P |
probably benign |
Het |
| Irs3 |
C |
T |
5: 137,643,539 (GRCm39) |
V82I |
probably benign |
Het |
| Kif16b |
A |
C |
2: 142,600,749 (GRCm39) |
D461E |
possibly damaging |
Het |
| Krba1 |
A |
G |
6: 48,390,014 (GRCm39) |
T592A |
possibly damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,024 (GRCm39) |
S369T |
possibly damaging |
Het |
| Lrrc4b |
C |
T |
7: 44,094,580 (GRCm39) |
P83S |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,319 (GRCm39) |
S39P |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,001 (GRCm39) |
T343A |
possibly damaging |
Het |
| Nt5e |
A |
G |
9: 88,246,805 (GRCm39) |
Y347C |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,703,047 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or2d3b |
A |
T |
7: 106,514,319 (GRCm39) |
T305S |
probably benign |
Het |
| Or2f2 |
C |
T |
6: 42,767,399 (GRCm39) |
T142I |
probably benign |
Het |
| Or8g26 |
A |
T |
9: 39,096,239 (GRCm39) |
Y255F |
probably benign |
Het |
| P2rx5 |
T |
C |
11: 73,058,800 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,768,734 (GRCm39) |
C406R |
possibly damaging |
Het |
| Plod3 |
T |
A |
5: 137,018,498 (GRCm39) |
N245K |
probably damaging |
Het |
| Polr3c |
G |
T |
3: 96,630,954 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Psap |
T |
A |
10: 60,135,276 (GRCm39) |
C317S |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,967,001 (GRCm39) |
I97V |
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,940,882 (GRCm39) |
|
probably null |
Het |
| Rnf19a |
G |
A |
15: 36,254,650 (GRCm39) |
R303* |
probably null |
Het |
| Sdk1 |
G |
A |
5: 142,082,489 (GRCm39) |
V1036I |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,620,588 (GRCm39) |
Y146F |
probably benign |
Het |
| Skint6 |
A |
G |
4: 112,963,109 (GRCm39) |
Y441H |
probably benign |
Het |
| Slc7a12 |
T |
C |
3: 14,570,580 (GRCm39) |
I173T |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,189,302 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tarm1 |
A |
T |
7: 3,545,939 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,693,479 (GRCm39) |
Y1817C |
probably damaging |
Het |
| Ttc9c |
A |
T |
19: 8,795,904 (GRCm39) |
L45Q |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,926,188 (GRCm39) |
T322I |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,439,430 (GRCm39) |
V669E |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,416 (GRCm39) |
M286V |
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,224,172 (GRCm39) |
K816E |
possibly damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,188 (GRCm39) |
M1T |
probably null |
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 |
|
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'- AAGTGCCCACTGCGGATATC -3'
(R):5'- TGGGTACTCAAGAAATAGTAAACCC -3'
Sequencing Primer
(F):5'- GCCCACTGCGGATATCTGATAC -3'
(R):5'- CATGATAAAGTTAATTTCCCCTTTGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation