Incidental Mutation 'R6442:Slc26a9'
| ID |
519038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a9
|
| Ensembl Gene |
ENSMUSG00000042268 |
| Gene Name |
solute carrier family 26, member 9 |
| Synonyms |
anion transporter/exchanger-9, E030002L01Rik |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131671760-131699242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131686555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 425
(Y425F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049027]
[ENSMUST00000147800]
[ENSMUST00000186122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049027
AA Change: Y425F
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: Y425F
| 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 |
probably benign
Transcript: ENSMUST00000147800
|
| SMART Domains |
Protein: ENSMUSP00000122075
Gene: ENSMUSG00000042268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
56 |
139 |
5.1e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186122
AA Change: Y388F
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
AA Change: Y388F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
150 |
428 |
9.6e-58 |
PFAM |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2231 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
probably damaging |
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 |
|
IGL02267:Slc26a9
|
APN |
1 |
131,680,583 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAACTGTCCCTGAGAAGTTC -3'
(R):5'- CCAGACAGTCAGCTTCAGTCTC -3'
Sequencing Primer
(F):5'- AGTTCAGGGGCCATGGG -3'
(R):5'- GTCTCCCCCTCACCCATACAATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation