Incidental Mutation 'R7978:Dsel'
| ID |
651002 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 111787449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1029
(R1029*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035462
AA Change: R1029*
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: R1029*
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,515 (GRCm39) |
I342N |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,619,932 (GRCm39) |
N453I |
possibly damaging |
Het |
| Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
| Ap1g1 |
C |
T |
8: 110,564,399 (GRCm39) |
R315* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,832,060 (GRCm39) |
Y741H |
probably damaging |
Het |
| Cacna2d2 |
C |
G |
9: 107,395,456 (GRCm39) |
L661V |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,216,921 (GRCm39) |
H64Q |
probably damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,426,960 (GRCm39) |
N582K |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 109,921,835 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,963,342 (GRCm39) |
N78D |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,915,307 (GRCm39) |
V132A |
probably damaging |
Het |
| Cwc25 |
G |
A |
11: 97,644,044 (GRCm39) |
Q230* |
probably null |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
T |
C |
13: 49,055,750 (GRCm39) |
Y646C |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,146,968 (GRCm39) |
W576R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,897,313 (GRCm39) |
E904G |
probably benign |
Het |
| Igkv17-121 |
C |
T |
6: 68,013,806 (GRCm39) |
T2I |
unknown |
Het |
| Ino80 |
T |
G |
2: 119,269,874 (GRCm39) |
R590S |
possibly damaging |
Het |
| Intu |
T |
A |
3: 40,652,069 (GRCm39) |
I842N |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,024,913 (GRCm39) |
T1015S |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kcna10 |
A |
G |
3: 107,101,663 (GRCm39) |
E98G |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,780,837 (GRCm39) |
Y570N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,564,676 (GRCm39) |
I923V |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,859,697 (GRCm39) |
D307G |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,083,458 (GRCm39) |
Y704H |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,392 (GRCm39) |
F244L |
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,014 (GRCm39) |
L29* |
probably null |
Het |
| Or4c58 |
A |
T |
2: 89,674,611 (GRCm39) |
C235* |
probably null |
Het |
| Or4f59 |
T |
C |
2: 111,872,523 (GRCm39) |
T285A |
possibly damaging |
Het |
| Pmel |
G |
A |
10: 128,551,819 (GRCm39) |
V218M |
probably damaging |
Het |
| Prkar2b |
T |
C |
12: 32,013,024 (GRCm39) |
H364R |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,294,867 (GRCm39) |
F809S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,078,838 (GRCm39) |
S59P |
|
Het |
| Rgr |
A |
G |
14: 36,766,645 (GRCm39) |
F134L |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 95,349,753 (GRCm39) |
R47L |
probably damaging |
Het |
| Scd3 |
G |
T |
19: 44,222,688 (GRCm39) |
E113* |
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,586,938 (GRCm39) |
A476V |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,792,878 (GRCm39) |
E560G |
unknown |
Het |
| Snx3 |
A |
G |
10: 42,378,346 (GRCm39) |
D7G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
A |
G |
19: 38,905,285 (GRCm39) |
M667V |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,142,104 (GRCm39) |
V81E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,966,583 (GRCm39) |
I395F |
probably damaging |
Het |
| Tes |
C |
A |
6: 17,096,322 (GRCm39) |
N103K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,193,426 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,726 (GRCm39) |
N491S |
probably damaging |
Het |
| Tomt |
T |
C |
7: 101,549,554 (GRCm39) |
I245V |
probably damaging |
Het |
| Trbc1 |
T |
C |
6: 41,515,236 (GRCm39) |
L28P |
|
Het |
| Trp63 |
T |
C |
16: 25,639,436 (GRCm39) |
V208A |
unknown |
Het |
| Ttll8 |
G |
T |
15: 88,799,565 (GRCm39) |
N625K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,135 (GRCm39) |
W786R |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,854 (GRCm39) |
I703F |
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 |
|
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 |
|
|
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 |
|
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'- ATTCTCAAGGCTGCTGCAG -3'
(R):5'- AAAGGACCATTTGATAGAGATGCTG -3'
Sequencing Primer
(F):5'- CAGTGTTTGCTACCCACAAATGAG -3'
(R):5'- GGTAGCTGGACATTGAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation