Incidental Mutation 'IGL02131:Slc26a2'
| ID |
281182 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc26a2
|
| Ensembl Gene |
ENSMUSG00000034320 |
| Gene Name |
solute carrier family 26 (sulfate transporter), member 2 |
| Synonyms |
Dtd, ST-OB |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
IGL02131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61329926-61344668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 61331884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 516
(F516V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037603]
[ENSMUST00000146409]
[ENSMUST00000148829]
|
| AlphaFold |
Q62273 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037603
AA Change: F281V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040163
Gene: ENSMUSG00000034320
AA Change: F281V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
1 |
279 |
5.8e-83 |
PFAM |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
334 |
480 |
5.8e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146409
AA Change: F516V
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119447
Gene: ENSMUSG00000034320
AA Change: F516V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
108 |
518 |
1.8e-133 |
PFAM |
|
low complexity region
|
552 |
565 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
569 |
715 |
2.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148829
|
| SMART Domains |
Protein: ENSMUSP00000114419
Gene: ENSMUSG00000034320
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
93 |
176 |
1.1e-33 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, stunted growth, joint contractures, and skeletal dysplasia including kyphosis, shorter osteoporotic long bones, aberrant chondrocyte size, delayed endochondral bone ossification, and impairedchondrocyte proliferation and sulfate uptake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
| Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
| Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
| Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
| Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
| Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
| Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
| Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
| Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
Het |
|
| Other mutations in Slc26a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Slc26a2
|
APN |
18 |
61,331,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01570:Slc26a2
|
APN |
18 |
61,331,332 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01800:Slc26a2
|
APN |
18 |
61,334,801 (GRCm39) |
nonsense |
probably null |
|
|
IGL02277:Slc26a2
|
APN |
18 |
61,332,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02438:Slc26a2
|
APN |
18 |
61,335,289 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03338:Slc26a2
|
APN |
18 |
61,331,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Slc26a2
|
APN |
18 |
61,331,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Slc26a2
|
UTSW |
18 |
61,335,382 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0531:Slc26a2
|
UTSW |
18 |
61,331,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Slc26a2
|
UTSW |
18 |
61,331,650 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2115:Slc26a2
|
UTSW |
18 |
61,331,896 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2272:Slc26a2
|
UTSW |
18 |
61,331,650 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2921:Slc26a2
|
UTSW |
18 |
61,335,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4184:Slc26a2
|
UTSW |
18 |
61,331,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4765:Slc26a2
|
UTSW |
18 |
61,332,558 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4812:Slc26a2
|
UTSW |
18 |
61,335,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Slc26a2
|
UTSW |
18 |
61,331,330 (GRCm39) |
nonsense |
probably null |
|
|
R4960:Slc26a2
|
UTSW |
18 |
61,331,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Slc26a2
|
UTSW |
18 |
61,331,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Slc26a2
|
UTSW |
18 |
61,332,489 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6147:Slc26a2
|
UTSW |
18 |
61,334,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Slc26a2
|
UTSW |
18 |
61,332,351 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6996:Slc26a2
|
UTSW |
18 |
61,334,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7166:Slc26a2
|
UTSW |
18 |
61,331,901 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7529:Slc26a2
|
UTSW |
18 |
61,331,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Slc26a2
|
UTSW |
18 |
61,331,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7846:Slc26a2
|
UTSW |
18 |
61,331,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8208:Slc26a2
|
UTSW |
18 |
61,331,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Slc26a2
|
UTSW |
18 |
61,335,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9490:Slc26a2
|
UTSW |
18 |
61,331,881 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9752:Slc26a2
|
UTSW |
18 |
61,335,010 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0003:Slc26a2
|
UTSW |
18 |
61,332,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Slc26a2
|
UTSW |
18 |
61,332,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation