Incidental Mutation 'R7347:Dsel'
| ID |
570248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
9330132E09Rik, DS-epi2 |
| MMRRC Submission |
045374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
111858702-111864918 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111861573 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 411
(G411S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035462
AA Change: G411S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: G411S
| 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 |
|
| Meta Mutation Damage Score |
0.5608 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1300017J02Rik |
T |
A |
9: 103,282,646 (GRCm38) |
E22V |
possibly damaging |
Het |
| 4930564D02Rik |
G |
T |
3: 105,078,412 (GRCm38) |
R47S |
unknown |
Het |
| 4931408C20Rik |
A |
T |
1: 26,684,467 (GRCm38) |
L544Q |
probably benign |
Het |
| Abtb2 |
T |
G |
2: 103,567,412 (GRCm38) |
I229S |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,420,441 (GRCm38) |
L457P |
probably damaging |
Het |
| Amer3 |
C |
A |
1: 34,587,902 (GRCm38) |
D407E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,849,035 (GRCm38) |
S729P |
probably benign |
Het |
| Asap2 |
T |
G |
12: 21,229,457 (GRCm38) |
I418S |
probably benign |
Het |
| Atp5j2 |
T |
C |
5: 145,188,485 (GRCm38) |
|
probably null |
Het |
| Brinp3 |
T |
A |
1: 146,902,086 (GRCm38) |
V757E |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,139,103 (GRCm38) |
G572R |
probably benign |
Het |
| C3 |
C |
A |
17: 57,223,215 (GRCm38) |
R462L |
probably benign |
Het |
| Cat |
T |
A |
2: 103,463,298 (GRCm38) |
H395L |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,402,606 (GRCm38) |
N235D |
possibly damaging |
Het |
| Cep89 |
G |
A |
7: 35,429,928 (GRCm38) |
R630H |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,185,268 (GRCm38) |
G993W |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,179,403 (GRCm38) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,489,372 (GRCm38) |
H29N |
probably benign |
Het |
| Dll3 |
C |
T |
7: 28,299,111 (GRCm38) |
R143H |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,784,530 (GRCm38) |
*114R |
probably null |
Het |
| Ecm2 |
T |
C |
13: 49,515,078 (GRCm38) |
S86P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,540,290 (GRCm38) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,733,032 (GRCm38) |
|
probably null |
Het |
| Exph5 |
A |
G |
9: 53,375,896 (GRCm38) |
N1426D |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,687,666 (GRCm38) |
F110L |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,580,381 (GRCm38) |
E1032V |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 58,017,193 (GRCm38) |
H556L |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,829,003 (GRCm38) |
Y344N |
probably benign |
Het |
| Glrx3 |
C |
A |
7: 137,459,286 (GRCm38) |
D216E |
possibly damaging |
Het |
| Gm45871 |
T |
A |
18: 90,591,375 (GRCm38) |
C246S |
probably damaging |
Het |
| Gm8251 |
G |
T |
1: 44,059,496 (GRCm38) |
P814Q |
probably damaging |
Het |
| Gm906 |
T |
C |
13: 50,245,744 (GRCm38) |
I849V |
probably benign |
Het |
| Gstm4 |
A |
G |
3: 108,042,373 (GRCm38) |
L137P |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 103,968,750 (GRCm38) |
T169A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 110,600,362 (GRCm38) |
T4778P |
probably benign |
Het |
| Ifna15 |
A |
G |
4: 88,557,983 (GRCm38) |
L88P |
probably damaging |
Het |
| Kcnab1 |
G |
A |
3: 65,376,531 (GRCm38) |
R390H |
probably benign |
Het |
| Kng1 |
C |
A |
16: 23,067,787 (GRCm38) |
H161N |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 136,060,958 (GRCm38) |
V199A |
probably benign |
Het |
| Lrig3 |
G |
A |
10: 126,009,966 (GRCm38) |
V755M |
probably damaging |
Het |
| Mad1l1 |
C |
T |
5: 140,144,044 (GRCm38) |
R412H |
probably damaging |
Het |
| March6 |
C |
A |
15: 31,486,359 (GRCm38) |
C350F |
probably benign |
Het |
| Mastl |
A |
G |
2: 23,133,389 (GRCm38) |
S441P |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,991,728 (GRCm38) |
M231L |
probably benign |
Het |
| Micalcl |
T |
C |
7: 112,382,151 (GRCm38) |
V444A |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,590,073 (GRCm38) |
Q155* |
probably null |
Het |
| Myo15 |
A |
G |
11: 60,477,961 (GRCm38) |
M516V |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,751,254 (GRCm38) |
F1110L |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,569,321 (GRCm38) |
L381* |
probably null |
Het |
| Nln |
T |
C |
13: 104,050,847 (GRCm38) |
K325E |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm38) |
S15A |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,745,504 (GRCm38) |
P271S |
probably benign |
Het |
| Obox6 |
A |
C |
7: 15,834,646 (GRCm38) |
L102V |
possibly damaging |
Het |
| Olfr1008 |
T |
C |
2: 85,689,837 (GRCm38) |
M136T |
probably damaging |
Het |
| Olfr1208 |
T |
C |
2: 88,897,271 (GRCm38) |
I109V |
possibly damaging |
Het |
| Olfr1241 |
T |
C |
2: 89,482,455 (GRCm38) |
S227G |
probably benign |
Het |
| Olfr853 |
A |
G |
9: 19,537,099 (GRCm38) |
M277T |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 8,967,462 (GRCm38) |
H567R |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,183,098 (GRCm38) |
S760L |
possibly damaging |
Het |
| Pid1 |
T |
A |
1: 84,159,129 (GRCm38) |
I94L |
unknown |
Het |
| Plekhn1 |
T |
C |
4: 156,222,671 (GRCm38) |
H474R |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,869,681 (GRCm38) |
S329T |
possibly damaging |
Het |
| Pros1 |
G |
T |
16: 62,919,523 (GRCm38) |
R445L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,012,261 (GRCm38) |
H1370Q |
probably benign |
Het |
| Sgce |
T |
A |
6: 4,694,106 (GRCm38) |
R283S |
probably damaging |
Het |
| Slc25a20 |
T |
G |
9: 108,682,458 (GRCm38) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,311,818 (GRCm38) |
V446A |
probably damaging |
Het |
| Slc6a4 |
C |
G |
11: 77,017,085 (GRCm38) |
Y358* |
probably null |
Het |
| Sned1 |
A |
C |
1: 93,281,736 (GRCm38) |
E857A |
probably damaging |
Het |
| Spdye4b |
C |
T |
5: 143,202,390 (GRCm38) |
R213C |
possibly damaging |
Het |
| Spry2 |
T |
G |
14: 105,893,512 (GRCm38) |
E80A |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,666,534 (GRCm38) |
C142Y |
probably benign |
Het |
| Sync |
A |
T |
4: 129,294,306 (GRCm38) |
Q377L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,485,692 (GRCm38) |
C718R |
|
Het |
| Tgoln1 |
G |
C |
6: 72,616,278 (GRCm38) |
T73R |
probably benign |
Het |
| Tmbim1 |
T |
C |
1: 74,291,279 (GRCm38) |
E185G |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,108,034 (GRCm38) |
M1031V |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,748,501 (GRCm38) |
V87I |
not run |
Het |
| Vmn2r49 |
A |
G |
7: 9,986,814 (GRCm38) |
V250A |
probably benign |
Het |
| Yipf3 |
A |
C |
17: 46,250,827 (GRCm38) |
T187P |
probably damaging |
Het |
| Zfp148 |
G |
T |
16: 33,434,790 (GRCm38) |
R50L |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,921,818 (GRCm38) |
G1013E |
probably damaging |
Het |
|
| Other mutations in Dsel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Dsel
|
APN |
1 |
111,860,061 (GRCm38) |
nonsense |
probably null |
|
|
IGL01562:Dsel
|
APN |
1 |
111,860,319 (GRCm38) |
missense |
probably benign |
|
|
IGL01591:Dsel
|
APN |
1 |
111,859,695 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01822:Dsel
|
APN |
1 |
111,861,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02289:Dsel
|
APN |
1 |
111,860,102 (GRCm38) |
nonsense |
probably null |
|
|
IGL02557:Dsel
|
APN |
1 |
111,862,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02805:Dsel
|
APN |
1 |
111,862,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02864:Dsel
|
APN |
1 |
111,859,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02887:Dsel
|
APN |
1 |
111,860,732 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL03092:Dsel
|
APN |
1 |
111,860,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03117:Dsel
|
APN |
1 |
111,859,178 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03182:Dsel
|
APN |
1 |
111,860,138 (GRCm38) |
missense |
probably damaging |
0.99 |
|
rudolph
|
UTSW |
1 |
111,859,817 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0196:Dsel
|
UTSW |
1 |
111,861,603 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0465:Dsel
|
UTSW |
1 |
111,862,262 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0725:Dsel
|
UTSW |
1 |
111,859,952 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1024:Dsel
|
UTSW |
1 |
111,860,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1147:Dsel
|
UTSW |
1 |
111,862,209 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1147:Dsel
|
UTSW |
1 |
111,862,209 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1654:Dsel
|
UTSW |
1 |
111,862,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1728:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1728:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R1729:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R1729:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1730:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R1730:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1735:Dsel
|
UTSW |
1 |
111,860,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1739:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R1762:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1762:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R1783:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1783:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R1785:Dsel
|
UTSW |
1 |
111,859,994 (GRCm38) |
missense |
probably benign |
|
|
R1785:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R2049:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R2080:Dsel
|
UTSW |
1 |
111,859,962 (GRCm38) |
missense |
probably benign |
|
|
R2141:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R2142:Dsel
|
UTSW |
1 |
111,859,457 (GRCm38) |
missense |
probably benign |
|
|
R2150:Dsel
|
UTSW |
1 |
111,860,257 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4324:Dsel
|
UTSW |
1 |
111,861,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5378:Dsel
|
UTSW |
1 |
111,862,821 (GRCm38) |
start gained |
probably benign |
|
|
R5881:Dsel
|
UTSW |
1 |
111,859,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5919:Dsel
|
UTSW |
1 |
111,860,253 (GRCm38) |
missense |
probably benign |
|
|
R6820:Dsel
|
UTSW |
1 |
111,859,817 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7003:Dsel
|
UTSW |
1 |
111,860,295 (GRCm38) |
missense |
probably benign |
|
|
R7064:Dsel
|
UTSW |
1 |
111,862,847 (GRCm38) |
start gained |
probably benign |
|
|
R7297:Dsel
|
UTSW |
1 |
111,861,776 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7340:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7341:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7343:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7346:Dsel
|
UTSW |
1 |
111,861,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7365:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7366:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7367:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Dsel
|
UTSW |
1 |
111,861,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7974:Dsel
|
UTSW |
1 |
111,860,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7978:Dsel
|
UTSW |
1 |
111,859,719 (GRCm38) |
nonsense |
probably null |
|
|
R8220:Dsel
|
UTSW |
1 |
111,861,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8434:Dsel
|
UTSW |
1 |
111,861,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8688:Dsel
|
UTSW |
1 |
111,862,738 (GRCm38) |
nonsense |
probably null |
|
|
R8819:Dsel
|
UTSW |
1 |
111,860,264 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8820:Dsel
|
UTSW |
1 |
111,860,264 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8923:Dsel
|
UTSW |
1 |
111,860,554 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9014:Dsel
|
UTSW |
1 |
111,860,779 (GRCm38) |
nonsense |
probably null |
|
|
R9196:Dsel
|
UTSW |
1 |
111,860,133 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9384:Dsel
|
UTSW |
1 |
111,860,133 (GRCm38) |
nonsense |
probably null |
|
|
R9427:Dsel
|
UTSW |
1 |
111,859,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0057:Dsel
|
UTSW |
1 |
111,859,210 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Dsel
|
UTSW |
1 |
111,861,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCCATTAGGAGCGAAAG -3'
(R):5'- GTTCATTTTACAGAATGGAGCTGG -3'
Sequencing Primer
(F):5'- CTGCCCATTAGGAGCGAAAGTAAATG -3'
(R):5'- AGCTGGAAATTGGTTAGCTCAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation