Incidental Mutation 'R0029:Slc26a2'
ID |
44597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a2
|
Ensembl Gene |
ENSMUSG00000034320 |
Gene Name |
solute carrier family 26 (sulfate transporter), member 2 |
Synonyms |
Dtd, ST-OB |
MMRRC Submission |
038323-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.244)
|
Stock # |
R0029 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61329926-61344668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61335382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 24
(P24S)
|
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: P24S
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119447 Gene: ENSMUSG00000034320 AA Change: P24S
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: P24S
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114419 Gene: ENSMUSG00000034320 AA Change: P24S
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
93 |
176 |
1.1e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181997
|
Meta Mutation Damage Score |
0.0679 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
94% (48/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
Ccn4 |
C |
T |
15: 66,784,713 (GRCm39) |
R129C |
probably damaging |
Het |
Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,469,397 (GRCm39) |
D753V |
probably damaging |
Het |
Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATATTTTGGGAGCCACCGCAAAAC -3'
(R):5'- GGCCAATGAGCCTCACTTAAGGAG -3'
Sequencing Primer
(F):5'- TCAAAAGCCCCGTCTCTG -3'
(R):5'- tgaaggaggtagaggcagg -3'
|
Posted On |
2013-06-11 |