Incidental Mutation 'R8459:Slc26a11'
ID |
655191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a11
|
Ensembl Gene |
ENSMUSG00000039908 |
Gene Name |
solute carrier family 26, member 11 |
Synonyms |
F630021I08Rik |
MMRRC Submission |
067836-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R8459 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119246383-119271905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119259643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 280
(I280N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050880]
|
AlphaFold |
Q80ZD3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050880
AA Change: I280N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050999 Gene: ENSMUSG00000039908 AA Change: I280N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aim2 |
CTTGTTGT |
CTTGT |
1: 173,289,536 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
C |
8: 23,605,528 (GRCm39) |
V1132A |
probably damaging |
Het |
Bpifb9a |
T |
G |
2: 154,102,153 (GRCm39) |
S83R |
probably damaging |
Het |
Cacnb3 |
C |
T |
15: 98,537,393 (GRCm39) |
R24C |
probably damaging |
Het |
Car8 |
C |
T |
4: 8,189,302 (GRCm39) |
V171I |
probably benign |
Het |
Cd200l1 |
T |
A |
16: 45,238,271 (GRCm39) |
H294L |
probably benign |
Het |
Cdk17 |
G |
C |
10: 93,068,289 (GRCm39) |
V349L |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,706,829 (GRCm39) |
E1104G |
probably damaging |
Het |
Chml |
T |
C |
1: 175,515,597 (GRCm39) |
D108G |
probably benign |
Het |
Cluap1 |
T |
C |
16: 3,755,453 (GRCm39) |
M356T |
probably damaging |
Het |
Cmtm1 |
A |
G |
8: 105,036,143 (GRCm39) |
V162A |
possibly damaging |
Het |
Cryge |
T |
C |
1: 65,087,841 (GRCm39) |
D156G |
possibly damaging |
Het |
Disc1 |
A |
C |
8: 125,891,894 (GRCm39) |
D649A |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,944,221 (GRCm39) |
|
probably null |
Het |
Dpp7 |
C |
A |
2: 25,242,550 (GRCm39) |
V468F |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,821,379 (GRCm39) |
V1207A |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,856,757 (GRCm39) |
F1163S |
unknown |
Het |
Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,810,022 (GRCm39) |
Y2114N |
possibly damaging |
Het |
Gnas |
A |
T |
2: 174,126,732 (GRCm39) |
H89L |
probably benign |
Het |
Gstt1 |
G |
A |
10: 75,629,943 (GRCm39) |
R107W |
probably damaging |
Het |
Hal |
A |
G |
10: 93,352,177 (GRCm39) |
D656G |
probably benign |
Het |
Htra3 |
G |
A |
5: 35,828,569 (GRCm39) |
|
probably benign |
Het |
Ighv1-64 |
G |
A |
12: 115,471,256 (GRCm39) |
A87V |
probably benign |
Het |
Itga3 |
A |
G |
11: 94,959,633 (GRCm39) |
V80A |
probably benign |
Het |
Lrrc58 |
A |
G |
16: 37,698,872 (GRCm39) |
N280D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,374,107 (GRCm39) |
E1501G |
possibly damaging |
Het |
Madd |
A |
G |
2: 90,992,871 (GRCm39) |
I1016T |
probably benign |
Het |
Mbnl1 |
T |
G |
3: 60,529,628 (GRCm39) |
S260R |
probably damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,348 (GRCm39) |
Q100L |
probably damaging |
Het |
Phip |
G |
T |
9: 82,758,106 (GRCm39) |
A1529D |
probably benign |
Het |
Pramel58 |
A |
G |
5: 94,830,742 (GRCm39) |
D80G |
probably damaging |
Het |
Prorsd1 |
T |
C |
11: 29,463,286 (GRCm39) |
T159A |
probably damaging |
Het |
Sh3tc1 |
C |
A |
5: 35,878,933 (GRCm39) |
R67L |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,703,481 (GRCm39) |
L518* |
probably null |
Het |
Spata16 |
A |
G |
3: 26,721,676 (GRCm39) |
T66A |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,374,277 (GRCm39) |
R177* |
probably null |
Het |
Vmn1r16 |
A |
C |
6: 57,300,347 (GRCm39) |
C92G |
probably benign |
Het |
Vmn1r50 |
A |
G |
6: 90,084,235 (GRCm39) |
|
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 |
R5660:Slc26a11
|
UTSW |
11 |
119,248,804 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- AAAACAGACTGGGGCTCACC -3'
(R):5'- GAACCTGGCTAGTGCATCCTTTC -3'
Sequencing Primer
(F):5'- GGGGCTCACCAGTCTCTTC -3'
(R):5'- TTTCCCGGTGTCCAAAGAAG -3'
|
Posted On |
2020-10-20 |