Incidental Mutation 'R5660:Slc26a11'
| ID |
501325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a11
|
| Ensembl Gene |
ENSMUSG00000039908 |
| Gene Name |
solute carrier family 26, member 11 |
| Synonyms |
F630021I08Rik |
| MMRRC Submission |
043173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R5660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119246383-119271905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119248804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 62
(Y62H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005173]
[ENSMUST00000050880]
[ENSMUST00000100172]
[ENSMUST00000136523]
|
| AlphaFold |
Q80ZD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005173
|
| SMART Domains |
Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfatase
|
23 |
328 |
2.6e-60 |
PFAM |
|
Pfam:Phosphodiest
|
25 |
287 |
5.2e-8 |
PFAM |
|
low complexity region
|
348 |
357 |
N/A |
INTRINSIC |
|
Pfam:DUF4976
|
400 |
477 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050880
AA Change: Y62H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
31 |
424 |
1.8e-97 |
PFAM |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
453 |
559 |
3.6e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100172
|
| SMART Domains |
Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfatase
|
23 |
250 |
1.7e-35 |
PFAM |
|
Pfam:Phosphodiest
|
25 |
237 |
2.7e-8 |
PFAM |
|
low complexity region
|
311 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136523
|
| SMART Domains |
Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4MIV|H
|
1 |
30 |
1e-5 |
PDB |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151612
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,828 (GRCm39) |
N1307S |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,274,539 (GRCm39) |
D41E |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,886,761 (GRCm39) |
V966A |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,667,472 (GRCm39) |
D470V |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,901 (GRCm39) |
F261L |
probably damaging |
Het |
| Akap3 |
C |
T |
6: 126,842,254 (GRCm39) |
A291V |
probably damaging |
Het |
| Akr1c6 |
G |
A |
13: 4,499,053 (GRCm39) |
V214I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,255 (GRCm39) |
I238F |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,615,383 (GRCm39) |
Y1024* |
probably null |
Het |
| Cad |
T |
A |
5: 31,234,191 (GRCm39) |
D1956E |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,843,220 (GRCm39) |
I237N |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,542,337 (GRCm39) |
T180A |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,313,686 (GRCm39) |
N1303K |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,873,315 (GRCm39) |
S2227P |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,972,722 (GRCm39) |
M324K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,321,574 (GRCm39) |
K4363R |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,348,500 (GRCm39) |
Y238N |
probably benign |
Het |
| Fam83c |
G |
A |
2: 155,671,509 (GRCm39) |
A642V |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,175,002 (GRCm39) |
T1904S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,306,291 (GRCm39) |
N279S |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,397 (GRCm39) |
N374S |
probably benign |
Het |
| Gm14401 |
T |
A |
2: 176,778,224 (GRCm39) |
H103Q |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,048 (GRCm39) |
|
noncoding transcript |
Het |
| Helb |
G |
A |
10: 119,946,984 (GRCm39) |
Q110* |
probably null |
Het |
| Ido1 |
T |
C |
8: 25,081,558 (GRCm39) |
D41G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,898,152 (GRCm39) |
S805P |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,147 (GRCm39) |
A24E |
probably damaging |
Het |
| Mmp23 |
C |
T |
4: 155,735,710 (GRCm39) |
C287Y |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,087,918 (GRCm39) |
R147G |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,292,147 (GRCm39) |
K301E |
possibly damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,535 (GRCm39) |
L196P |
probably damaging |
Het |
| Or8g4 |
G |
A |
9: 39,662,063 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,776 (GRCm39) |
C60S |
probably benign |
Het |
| Rora |
A |
G |
9: 68,561,203 (GRCm39) |
S11G |
probably benign |
Het |
| Rps6ka5 |
G |
T |
12: 100,585,839 (GRCm39) |
H151Q |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,807 (GRCm39) |
S100P |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,694,902 (GRCm39) |
T1229A |
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Smg1 |
C |
T |
7: 117,742,570 (GRCm39) |
V3215I |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,617,579 (GRCm39) |
P285L |
possibly damaging |
Het |
| Themis2 |
T |
C |
4: 132,523,567 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,547,732 (GRCm39) |
V743A |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,150,495 (GRCm39) |
N462Y |
possibly damaging |
Het |
| Wnt2 |
T |
A |
6: 18,028,145 (GRCm39) |
M30L |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,576,365 (GRCm39) |
I239V |
probably benign |
Het |
|
| Other mutations in Slc26a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Slc26a11
|
APN |
11 |
119,270,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01359:Slc26a11
|
APN |
11 |
119,254,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01835:Slc26a11
|
APN |
11 |
119,268,040 (GRCm39) |
missense |
probably benign |
|
|
R0193:Slc26a11
|
UTSW |
11 |
119,250,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Slc26a11
|
UTSW |
11 |
119,270,767 (GRCm39) |
splice site |
probably benign |
|
|
R0709:Slc26a11
|
UTSW |
11 |
119,265,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Slc26a11
|
UTSW |
11 |
119,263,979 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1964:Slc26a11
|
UTSW |
11 |
119,271,020 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4762:Slc26a11
|
UTSW |
11 |
119,247,657 (GRCm39) |
unclassified |
probably benign |
|
|
R5153:Slc26a11
|
UTSW |
11 |
119,268,085 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5302:Slc26a11
|
UTSW |
11 |
119,254,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5994:Slc26a11
|
UTSW |
11 |
119,270,738 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6025:Slc26a11
|
UTSW |
11 |
119,265,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Slc26a11
|
UTSW |
11 |
119,250,125 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6970:Slc26a11
|
UTSW |
11 |
119,247,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Slc26a11
|
UTSW |
11 |
119,248,844 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7466:Slc26a11
|
UTSW |
11 |
119,265,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8210:Slc26a11
|
UTSW |
11 |
119,270,692 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8459:Slc26a11
|
UTSW |
11 |
119,259,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9238:Slc26a11
|
UTSW |
11 |
119,265,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9324:Slc26a11
|
UTSW |
11 |
119,267,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9393:Slc26a11
|
UTSW |
11 |
119,259,627 (GRCm39) |
missense |
probably benign |
|
|
X0026:Slc26a11
|
UTSW |
11 |
119,271,056 (GRCm39) |
missense |
probably benign |
|
|
X0028:Slc26a11
|
UTSW |
11 |
119,271,020 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Slc26a11
|
UTSW |
11 |
119,247,785 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGCTTCATCAGACAGGC -3'
(R):5'- CCCTGTTTACAGAGAAGCACAG -3'
Sequencing Primer
(F):5'- TTCATCAGACAGGCCCCCAAG -3'
(R):5'- GAGTCTTACCCAAATGCAGGAGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation