Incidental Mutation 'IGL02267:Slc26a9'
| ID |
286933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc26a9
|
| Ensembl Gene |
ENSMUSG00000042268 |
| Gene Name |
solute carrier family 26, member 9 |
| Synonyms |
anion transporter/exchanger-9, E030002L01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
IGL02267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131671760-131699242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131680583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 43
(C43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049027]
[ENSMUST00000147800]
[ENSMUST00000186122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049027
AA Change: C43R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: C43R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
71 |
469 |
7.4e-99 |
PFAM |
|
transmembrane domain
|
473 |
495 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
520 |
733 |
2.8e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130544
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147800
AA Change: C43R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122075
Gene: ENSMUSG00000042268
AA Change: C43R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
56 |
139 |
5.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186122
AA Change: C43R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
AA Change: C43R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
150 |
428 |
9.6e-58 |
PFAM |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced gastric secretory membranes and loss of gastric acid secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,683,505 (GRCm39) |
Q929R |
probably benign |
Het |
| Aplf |
A |
T |
6: 87,635,946 (GRCm39) |
D122E |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,878,810 (GRCm39) |
L874Q |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,691 (GRCm39) |
L406Q |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,733,891 (GRCm39) |
D374G |
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,220,708 (GRCm39) |
R239* |
probably null |
Het |
| Bhmt2 |
A |
G |
13: 93,805,854 (GRCm39) |
V56A |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
| Ccdc157 |
G |
A |
11: 4,094,035 (GRCm39) |
A532V |
probably benign |
Het |
| Cd300lb |
G |
A |
11: 114,819,303 (GRCm39) |
R109* |
probably null |
Het |
| Clca4c-ps |
T |
C |
3: 144,585,516 (GRCm39) |
|
noncoding transcript |
Het |
| Ctnna3 |
G |
T |
10: 64,781,777 (GRCm39) |
V747F |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,866 (GRCm39) |
I488F |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,935,362 (GRCm39) |
M85V |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,266,090 (GRCm39) |
Y2220N |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,099 (GRCm39) |
I1217V |
probably benign |
Het |
| Exoc2 |
A |
G |
13: 30,999,304 (GRCm39) |
S918P |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,873,172 (GRCm39) |
I1303F |
possibly damaging |
Het |
| Gm28047 |
A |
T |
15: 102,455,662 (GRCm39) |
I234K |
probably damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,410,630 (GRCm39) |
V19A |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,458 (GRCm39) |
V283A |
probably benign |
Het |
| Grb14 |
A |
G |
2: 64,783,960 (GRCm39) |
Y56H |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,767,209 (GRCm39) |
F331S |
probably benign |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,141,591 (GRCm39) |
Y198C |
probably damaging |
Het |
| Klk1b11 |
G |
T |
7: 43,649,165 (GRCm39) |
C234F |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,552,649 (GRCm39) |
T181A |
probably benign |
Het |
| Or1e23 |
A |
G |
11: 73,407,375 (GRCm39) |
S217P |
probably benign |
Het |
| Or2m13 |
A |
T |
16: 19,225,914 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,161,465 (GRCm39) |
Y259F |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 71,962,274 (GRCm39) |
I227N |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,116,995 (GRCm39) |
E189G |
probably damaging |
Het |
| Pnpla2 |
C |
A |
7: 141,038,122 (GRCm39) |
P197T |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,567,327 (GRCm39) |
T62A |
probably benign |
Het |
| Ptprq |
G |
T |
10: 107,482,419 (GRCm39) |
D1051E |
probably damaging |
Het |
| Rag2 |
C |
T |
2: 101,460,376 (GRCm39) |
R229C |
probably damaging |
Het |
| Serinc1 |
A |
T |
10: 57,399,204 (GRCm39) |
I196N |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc2a3 |
A |
T |
6: 122,716,931 (GRCm39) |
Y44N |
probably benign |
Het |
| Smad5 |
T |
G |
13: 56,883,603 (GRCm39) |
|
probably benign |
Het |
| Sugct |
C |
A |
13: 17,819,450 (GRCm39) |
V132F |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,030 (GRCm39) |
E568G |
possibly damaging |
Het |
| Tfpt |
T |
C |
7: 3,631,982 (GRCm39) |
T43A |
probably damaging |
Het |
| Timp4 |
A |
T |
6: 115,224,240 (GRCm39) |
V143E |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 74,031,290 (GRCm39) |
D275G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,523,449 (GRCm39) |
E161G |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 57,008,743 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,722 (GRCm39) |
V522E |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,935,265 (GRCm39) |
V449A |
probably damaging |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,273 (GRCm39) |
Y64C |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,805 (GRCm39) |
M290I |
probably benign |
Het |
|
| Other mutations in Slc26a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Slc26a9
|
APN |
1 |
131,685,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01131:Slc26a9
|
APN |
1 |
131,683,280 (GRCm39) |
splice site |
probably null |
|
|
IGL01544:Slc26a9
|
APN |
1 |
131,687,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01845:Slc26a9
|
APN |
1 |
131,685,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02125:Slc26a9
|
APN |
1 |
131,687,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02151:Slc26a9
|
APN |
1 |
131,691,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02469:Slc26a9
|
APN |
1 |
131,690,674 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03137:Slc26a9
|
APN |
1 |
131,691,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03324:Slc26a9
|
APN |
1 |
131,691,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Slc26a9
|
UTSW |
1 |
131,681,749 (GRCm39) |
splice site |
probably benign |
|
|
R0611:Slc26a9
|
UTSW |
1 |
131,690,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Slc26a9
|
UTSW |
1 |
131,691,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0654:Slc26a9
|
UTSW |
1 |
131,692,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0926:Slc26a9
|
UTSW |
1 |
131,680,954 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1109:Slc26a9
|
UTSW |
1 |
131,686,536 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1521:Slc26a9
|
UTSW |
1 |
131,678,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Slc26a9
|
UTSW |
1 |
131,693,750 (GRCm39) |
missense |
probably benign |
|
|
R1728:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1729:Slc26a9
|
UTSW |
1 |
131,693,750 (GRCm39) |
missense |
probably benign |
|
|
R1729:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1730:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1739:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1762:Slc26a9
|
UTSW |
1 |
131,693,750 (GRCm39) |
missense |
probably benign |
|
|
R1762:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1783:Slc26a9
|
UTSW |
1 |
131,693,750 (GRCm39) |
missense |
probably benign |
|
|
R1783:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1784:Slc26a9
|
UTSW |
1 |
131,693,750 (GRCm39) |
missense |
probably benign |
|
|
R1784:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1785:Slc26a9
|
UTSW |
1 |
131,693,750 (GRCm39) |
missense |
probably benign |
|
|
R1785:Slc26a9
|
UTSW |
1 |
131,691,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1992:Slc26a9
|
UTSW |
1 |
131,690,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Slc26a9
|
UTSW |
1 |
131,691,001 (GRCm39) |
splice site |
probably benign |
|
|
R3008:Slc26a9
|
UTSW |
1 |
131,693,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Slc26a9
|
UTSW |
1 |
131,691,682 (GRCm39) |
missense |
probably benign |
|
|
R3879:Slc26a9
|
UTSW |
1 |
131,696,969 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4064:Slc26a9
|
UTSW |
1 |
131,690,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4088:Slc26a9
|
UTSW |
1 |
131,695,587 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4657:Slc26a9
|
UTSW |
1 |
131,680,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5005:Slc26a9
|
UTSW |
1 |
131,693,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6255:Slc26a9
|
UTSW |
1 |
131,691,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Slc26a9
|
UTSW |
1 |
131,686,228 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6442:Slc26a9
|
UTSW |
1 |
131,686,555 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6674:Slc26a9
|
UTSW |
1 |
131,692,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6719:Slc26a9
|
UTSW |
1 |
131,689,523 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7202:Slc26a9
|
UTSW |
1 |
131,690,526 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7214:Slc26a9
|
UTSW |
1 |
131,687,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7238:Slc26a9
|
UTSW |
1 |
131,686,556 (GRCm39) |
nonsense |
probably null |
|
|
R7389:Slc26a9
|
UTSW |
1 |
131,696,986 (GRCm39) |
makesense |
probably null |
|
|
R7439:Slc26a9
|
UTSW |
1 |
131,690,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Slc26a9
|
UTSW |
1 |
131,690,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Slc26a9
|
UTSW |
1 |
131,691,781 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7515:Slc26a9
|
UTSW |
1 |
131,681,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Slc26a9
|
UTSW |
1 |
131,691,634 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7655:Slc26a9
|
UTSW |
1 |
131,690,982 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7656:Slc26a9
|
UTSW |
1 |
131,690,982 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8278:Slc26a9
|
UTSW |
1 |
131,689,514 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8790:Slc26a9
|
UTSW |
1 |
131,683,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Slc26a9
|
UTSW |
1 |
131,680,703 (GRCm39) |
missense |
probably benign |
|
|
R9639:Slc26a9
|
UTSW |
1 |
131,678,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9670:Slc26a9
|
UTSW |
1 |
131,681,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9681:Slc26a9
|
UTSW |
1 |
131,681,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9775:Slc26a9
|
UTSW |
1 |
131,690,970 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2015-04-16 |
Incidental Mutation