Incidental Mutation 'IGL01800:Slc26a2'
| ID |
155485 |
| 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 # |
IGL01800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61329926-61344668 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 61334801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 217
(Y217*)
|
| 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 null
Transcript: ENSMUST00000146409
AA Change: Y217*
|
| SMART Domains |
Protein: ENSMUSP00000119447
Gene: ENSMUSG00000034320
AA Change: Y217*
| 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 null
Transcript: ENSMUST00000148829
AA Change: Y217*
|
| SMART Domains |
Protein: ENSMUSP00000114419
Gene: ENSMUSG00000034320
AA Change: Y217*
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
| Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
| Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
| Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
| Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
| Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
| Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
| Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
| Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
| Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
| Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
| Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
| Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
| Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
possibly 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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation