Incidental Mutation 'R7297:Dsel'
| ID |
566708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
DS-epi2, 9330132E09Rik |
| MMRRC Submission |
045401-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111789506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 343
(D343V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035462
AA Change: D343V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: D343V
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Abca6 |
C |
T |
11: 110,073,852 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
G |
3: 138,134,901 (GRCm39) |
I358M |
possibly damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,106,616 (GRCm39) |
A1409V |
possibly damaging |
Het |
| Arhgap22 |
C |
T |
14: 32,993,890 (GRCm39) |
R68* |
probably null |
Het |
| Arhgef4 |
A |
T |
1: 34,846,273 (GRCm39) |
D207V |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,566,462 (GRCm39) |
T472A |
probably damaging |
Het |
| Ascl1 |
A |
T |
10: 87,328,326 (GRCm39) |
S209T |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,239,355 (GRCm39) |
V382A |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,856,774 (GRCm39) |
|
probably null |
Het |
| Calu |
C |
T |
6: 29,356,554 (GRCm39) |
R27* |
probably null |
Het |
| Cdh20 |
A |
G |
1: 104,898,598 (GRCm39) |
T442A |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,927,869 (GRCm39) |
Q389L |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,079,460 (GRCm39) |
T1233A |
probably benign |
Het |
| Cwc15 |
G |
A |
9: 14,421,525 (GRCm39) |
C197Y |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dennd3 |
C |
T |
15: 73,429,459 (GRCm39) |
T914I |
probably damaging |
Het |
| Dlx3 |
C |
A |
11: 95,011,276 (GRCm39) |
Y43* |
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,946,556 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,994,182 (GRCm39) |
F1081S |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,281,157 (GRCm39) |
Q631* |
probably null |
Het |
| Efcab12 |
T |
C |
6: 115,787,997 (GRCm39) |
D655G |
possibly damaging |
Het |
| Epha8 |
T |
A |
4: 136,673,224 (GRCm39) |
I187L |
probably damaging |
Het |
| Exosc10 |
A |
G |
4: 148,664,834 (GRCm39) |
K781E |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,365,751 (GRCm39) |
L200P |
probably benign |
Het |
| Faiml |
T |
C |
9: 99,111,666 (GRCm39) |
E131G |
probably damaging |
Het |
| Gm5145 |
G |
A |
17: 20,790,993 (GRCm39) |
V124I |
probably benign |
Het |
| Grm7 |
T |
C |
6: 110,622,974 (GRCm39) |
V49A |
probably benign |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,427 (GRCm39) |
D35G |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,435,941 (GRCm39) |
Q1160* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,786,406 (GRCm39) |
C1584S |
probably benign |
Het |
| Hsd17b3 |
T |
C |
13: 64,224,165 (GRCm39) |
I88V |
probably damaging |
Het |
| Hspa14 |
A |
C |
2: 3,499,179 (GRCm39) |
L205R |
possibly damaging |
Het |
| Ifna11 |
A |
C |
4: 88,738,662 (GRCm39) |
E156A |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,387,528 (GRCm39) |
D170G |
probably benign |
Het |
| Mas1 |
T |
C |
17: 13,060,745 (GRCm39) |
Y226C |
probably damaging |
Het |
| Micall1 |
T |
C |
15: 79,005,097 (GRCm39) |
F190L |
unknown |
Het |
| Msi2 |
A |
T |
11: 88,370,864 (GRCm39) |
L141Q |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,465,768 (GRCm39) |
D27G |
probably benign |
Het |
| Nlrp9b |
A |
G |
7: 19,783,438 (GRCm39) |
D927G |
possibly damaging |
Het |
| Nrg3 |
T |
C |
14: 38,092,896 (GRCm39) |
D579G |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,767,245 (GRCm39) |
D296N |
probably damaging |
Het |
| Or8h6 |
A |
T |
2: 86,703,980 (GRCm39) |
V29E |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,885,138 (GRCm39) |
P1406S |
not run |
Het |
| Pkib |
A |
T |
10: 57,612,422 (GRCm39) |
Q101L |
possibly damaging |
Het |
| Plat |
C |
T |
8: 23,265,713 (GRCm39) |
T252I |
probably benign |
Het |
| Ppm1d |
A |
T |
11: 85,236,821 (GRCm39) |
E533D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,573,686 (GRCm39) |
K165R |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,944,616 (GRCm39) |
Y375* |
probably null |
Het |
| Pus7 |
A |
T |
5: 23,946,908 (GRCm39) |
I644N |
probably damaging |
Het |
| Rbbp9 |
A |
T |
2: 144,385,722 (GRCm39) |
M181K |
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,093,418 (GRCm39) |
N112K |
possibly damaging |
Het |
| Simc1 |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
13: 54,673,048 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,400,131 (GRCm39) |
T1184M |
unknown |
Het |
| Slc27a2 |
T |
A |
2: 126,420,866 (GRCm39) |
D452E |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,146,888 (GRCm39) |
I489N |
probably damaging |
Het |
| Slfn14 |
T |
A |
11: 83,169,821 (GRCm39) |
K608* |
probably null |
Het |
| Snx15 |
T |
A |
19: 6,170,537 (GRCm39) |
I301F |
probably damaging |
Het |
| Sost |
C |
T |
11: 101,854,929 (GRCm39) |
G127R |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,106,025 (GRCm39) |
I150T |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,478,402 (GRCm39) |
D58G |
probably benign |
Het |
| Tex46 |
T |
G |
4: 136,340,212 (GRCm39) |
V99G |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,926 (GRCm39) |
F492I |
possibly damaging |
Het |
| Tmem132c |
G |
A |
5: 127,437,281 (GRCm39) |
A257T |
probably benign |
Het |
| Trim2 |
A |
T |
3: 84,117,540 (GRCm39) |
I51K |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,228,591 (GRCm39) |
Y210* |
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,227,639 (GRCm39) |
R1324H |
probably benign |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r5 |
A |
T |
6: 56,963,204 (GRCm39) |
N293I |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,293,835 (GRCm39) |
I641F |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,119 (GRCm39) |
N240D |
probably benign |
Het |
| Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly 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 |
|
|
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'- TGCCAAAATCAACAGGAGGCTG -3'
(R):5'- CATTGGATGAAGGTGTGGCC -3'
Sequencing Primer
(F):5'- TCAACAGGAGGCTGTGGGG -3'
(R):5'- GTGGCCTATGGAAGCTATACCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation