Incidental Mutation 'IGL02438:Slc26a2'
| ID |
293354 |
| 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 # |
IGL02438
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61329926-61344668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 61335289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 55
(H55N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037603]
[ENSMUST00000146409]
[ENSMUST00000148829]
|
| AlphaFold |
Q62273 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037603
|
| SMART Domains |
Protein: ENSMUSP00000040163
Gene: ENSMUSG00000034320
| 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 |
probably benign
Transcript: ENSMUST00000146409
AA Change: H55N
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119447
Gene: ENSMUSG00000034320
AA Change: H55N
| 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 |
possibly damaging
Transcript: ENSMUST00000148829
AA Change: H55N
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114419
Gene: ENSMUSG00000034320
AA Change: H55N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
93 |
176 |
1.1e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181997
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,101 (GRCm39) |
N648S |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,792,841 (GRCm39) |
I285M |
possibly damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,233,758 (GRCm39) |
F291S |
probably benign |
Het |
| Gm6619 |
T |
C |
6: 131,467,398 (GRCm39) |
S88P |
possibly damaging |
Het |
| Ist1 |
A |
G |
8: 110,402,002 (GRCm39) |
|
probably benign |
Het |
| Muc13 |
T |
A |
16: 33,628,350 (GRCm39) |
S367T |
possibly damaging |
Het |
| Necab3 |
T |
A |
2: 154,387,964 (GRCm39) |
D284V |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,981,511 (GRCm39) |
Q83* |
probably null |
Het |
| Ppcs |
A |
G |
4: 119,278,889 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Trmt2b |
C |
A |
X: 133,143,832 (GRCm39) |
V219L |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,062 (GRCm39) |
D27G |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,824 (GRCm39) |
F605L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,744 (GRCm39) |
L381P |
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 |
|
|
IGL02131:Slc26a2
|
APN |
18 |
61,331,884 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02277:Slc26a2
|
APN |
18 |
61,332,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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