Incidental Mutation 'R7974:Dsel'
| ID |
650754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsel
|
| Ensembl Gene |
ENSMUSG00000038702 |
| Gene Name |
dermatan sulfate epimerase-like |
| Synonyms |
DS-epi2, 9330132E09Rik |
| MMRRC Submission |
046017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
111786432-111792648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111788229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 769
(I769V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035462]
|
| AlphaFold |
Q0VBN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035462
AA Change: I769V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: I769V
| 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 |
0.0574 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,033,405 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
T |
18: 59,144,094 (GRCm39) |
Q892L |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,886,668 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,648,233 (GRCm39) |
*686W |
probably null |
Het |
| AI661453 |
T |
C |
17: 47,777,006 (GRCm39) |
L244P |
unknown |
Het |
| Ankar |
C |
A |
1: 72,738,138 (GRCm39) |
E15* |
probably null |
Het |
| Ankrd39 |
A |
G |
1: 36,585,999 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,478 (GRCm39) |
D56G |
probably damaging |
Het |
| Blmh |
T |
C |
11: 76,856,729 (GRCm39) |
I245T |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,056 (GRCm39) |
F87S |
probably damaging |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,523 (GRCm39) |
K61E |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,915,231 (GRCm39) |
G914D |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,120,764 (GRCm39) |
K86N |
probably benign |
Het |
| Cfap70 |
A |
T |
14: 20,470,818 (GRCm39) |
F532I |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,006 (GRCm39) |
L506Q |
probably damaging |
Het |
| Dct |
A |
C |
14: 118,277,067 (GRCm39) |
I273S |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,762,652 (GRCm39) |
E138K |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,279,425 (GRCm39) |
S305P |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,885,063 (GRCm39) |
V245D |
probably damaging |
Het |
| Fez1 |
C |
A |
9: 36,755,244 (GRCm39) |
T81K |
probably damaging |
Het |
| Gli3 |
A |
C |
13: 15,900,841 (GRCm39) |
Q1409H |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,353,219 (GRCm39) |
S664G |
possibly damaging |
Het |
| Hibadh |
A |
G |
6: 52,534,880 (GRCm39) |
S167P |
probably benign |
Het |
| Hsdl1 |
A |
G |
8: 120,293,072 (GRCm39) |
V121A |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,688 (GRCm39) |
H465R |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,669 (GRCm39) |
I6S |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,281,520 (GRCm39) |
M1K |
probably null |
Het |
| Itch |
T |
C |
2: 155,034,079 (GRCm39) |
F417S |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,500,366 (GRCm39) |
T2653I |
possibly damaging |
Het |
| Kank1 |
T |
G |
19: 25,401,584 (GRCm39) |
Y1064D |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,505,561 (GRCm39) |
Q3249R |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,385 (GRCm39) |
C318R |
probably damaging |
Het |
| Lmbr1l |
C |
T |
15: 98,809,500 (GRCm39) |
V147I |
probably benign |
Het |
| Meig1 |
C |
A |
2: 3,412,911 (GRCm39) |
E37* |
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,180 (GRCm39) |
|
probably null |
Het |
| Muc17 |
T |
C |
5: 137,175,664 (GRCm39) |
N2S |
|
Het |
| Mup7 |
T |
C |
4: 60,067,518 (GRCm39) |
E199G |
possibly damaging |
Het |
| Nol4 |
G |
C |
18: 22,852,082 (GRCm39) |
Y275* |
probably null |
Het |
| Nrxn1 |
G |
A |
17: 91,008,207 (GRCm39) |
P429S |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,672 (GRCm39) |
Y81C |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,829,996 (GRCm39) |
F367L |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,031 (GRCm39) |
E652G |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,783,980 (GRCm39) |
I301T |
probably benign |
Het |
| Rcn1 |
G |
A |
2: 105,224,055 (GRCm39) |
P163L |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,150,421 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
C |
T |
3: 135,099,791 (GRCm39) |
T437I |
possibly damaging |
Het |
| Smap1 |
T |
G |
1: 23,888,522 (GRCm39) |
T248P |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,966 (GRCm39) |
N212S |
possibly damaging |
Het |
| Sphkap |
A |
C |
1: 83,256,683 (GRCm39) |
C355W |
probably damaging |
Het |
| Spopfm2 |
T |
C |
3: 94,082,848 (GRCm39) |
K321R |
probably benign |
Het |
| Spsb1 |
T |
A |
4: 149,991,566 (GRCm39) |
M1L |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,646,439 (GRCm39) |
|
probably null |
Het |
| Taar5 |
G |
C |
10: 23,847,120 (GRCm39) |
D173H |
possibly damaging |
Het |
| Tfrc |
A |
G |
16: 32,440,101 (GRCm39) |
D438G |
probably null |
Het |
| Tinag |
A |
T |
9: 76,907,131 (GRCm39) |
I368K |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,873,906 (GRCm39) |
W531R |
probably damaging |
Het |
| Tnc |
G |
T |
4: 63,918,961 (GRCm39) |
P1154Q |
possibly damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,645 (GRCm39) |
R513G |
probably damaging |
Het |
| Vat1 |
A |
G |
11: 101,356,956 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r107 |
C |
G |
17: 20,577,270 (GRCm39) |
P423A |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,808 (GRCm39) |
E591V |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,281 (GRCm39) |
Y401F |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,414,031 (GRCm39) |
T804I |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,459 (GRCm39) |
I270F |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,167 (GRCm39) |
F377L |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,144,502 (GRCm39) |
S182P |
unknown |
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 |
|
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'- TCCATTTTGCACAGATGGGCTG -3'
(R):5'- TAGTTCCAGTTCTGGACTTCAG -3'
Sequencing Primer
(F):5'- GGCTGAGTGCATGTACTCCATAC -3'
(R):5'- GTCAACAGTACTGAACATAGTGTGTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation