Incidental Mutation 'R2198:Slc26a9'
| ID |
238474 |
| 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 |
040200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.805)
|
| Stock # |
R2198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131671760-131699242 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 131691001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049027]
[ENSMUST00000186122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049027
|
| SMART Domains |
Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
| 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: ENSMUST00000186122
|
| SMART Domains |
Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
T |
C |
14: 66,875,385 (GRCm39) |
I120T |
probably damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,627,464 (GRCm39) |
P186L |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,255 (GRCm39) |
K251R |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,728,226 (GRCm39) |
E789G |
possibly damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,324,220 (GRCm39) |
|
probably benign |
Het |
| Carf |
G |
A |
1: 60,180,643 (GRCm39) |
R355H |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Celf6 |
G |
T |
9: 59,510,622 (GRCm39) |
L169F |
possibly damaging |
Het |
| Cep295nl |
A |
T |
11: 118,223,419 (GRCm39) |
I475N |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,753,489 (GRCm39) |
S133T |
possibly damaging |
Het |
| Cnot6l |
C |
T |
5: 96,227,800 (GRCm39) |
D478N |
possibly damaging |
Het |
| Ctnna3 |
C |
A |
10: 64,838,524 (GRCm39) |
T867K |
probably benign |
Het |
| Ctse |
T |
G |
1: 131,600,185 (GRCm39) |
Y311* |
probably null |
Het |
| Ddx60 |
T |
A |
8: 62,411,097 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,750,325 (GRCm39) |
F3927L |
possibly damaging |
Het |
| Dsg4 |
T |
C |
18: 20,594,499 (GRCm39) |
S543P |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,567 (GRCm39) |
T237S |
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,800,935 (GRCm39) |
H357P |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,664,507 (GRCm39) |
I38V |
possibly damaging |
Het |
| Erap1 |
C |
T |
13: 74,794,806 (GRCm39) |
T155I |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,689,559 (GRCm39) |
|
probably benign |
Het |
| F5 |
A |
T |
1: 164,034,603 (GRCm39) |
K1834M |
probably damaging |
Het |
| Fyn |
A |
G |
10: 39,405,541 (GRCm39) |
E269G |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 40,690,229 (GRCm39) |
T42A |
probably benign |
Het |
| Grm1 |
T |
G |
10: 10,658,520 (GRCm39) |
R323S |
probably damaging |
Het |
| Gstt4 |
T |
C |
10: 75,658,235 (GRCm39) |
D8G |
probably damaging |
Het |
| Gvin-ps3 |
T |
A |
7: 105,682,758 (GRCm39) |
M166L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,643,698 (GRCm39) |
D94G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,101,575 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,289,100 (GRCm39) |
F1210Y |
probably damaging |
Het |
| Nifk |
A |
G |
1: 118,257,130 (GRCm39) |
R88G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,487,925 (GRCm39) |
M803I |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,950 (GRCm39) |
M1T |
probably null |
Het |
| Or2y16 |
C |
T |
11: 49,334,786 (GRCm39) |
S36F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,915 (GRCm39) |
Y130* |
probably null |
Het |
| Or8g18 |
G |
A |
9: 39,149,048 (GRCm39) |
T224I |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,852,466 (GRCm39) |
M272K |
probably damaging |
Het |
| Ppp1cb |
G |
T |
5: 32,640,704 (GRCm39) |
C139F |
probably damaging |
Het |
| Rad23b |
G |
A |
4: 55,385,497 (GRCm39) |
G345R |
possibly damaging |
Het |
| Shc4 |
A |
T |
2: 125,481,266 (GRCm39) |
V548E |
possibly damaging |
Het |
| Slc8a1 |
T |
A |
17: 81,715,685 (GRCm39) |
K783* |
probably null |
Het |
| Sobp |
A |
C |
10: 42,898,520 (GRCm39) |
I355S |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,899,779 (GRCm39) |
Y491H |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,147 (GRCm39) |
V727A |
probably damaging |
Het |
| Tmprss9 |
C |
T |
10: 80,723,293 (GRCm39) |
P251L |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,315,803 (GRCm39) |
D994E |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,340,221 (GRCm39) |
D466N |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,520,872 (GRCm39) |
F394L |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,980,970 (GRCm39) |
Y144F |
probably benign |
Het |
| Usp22 |
A |
G |
11: 61,050,163 (GRCm39) |
F324S |
probably damaging |
Het |
| Vmn1r78 |
G |
T |
7: 11,886,487 (GRCm39) |
V33F |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,336,907 (GRCm39) |
R1494Q |
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,226,697 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h14 |
G |
A |
12: 98,719,068 (GRCm39) |
M144I |
probably damaging |
Het |
| Zc3h14 |
G |
A |
12: 98,719,069 (GRCm39) |
V145M |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,936 (GRCm39) |
T49A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCACAGAGGTACAGGTC -3'
(R):5'- AGTGCATTTACCCATGTCTGCC -3'
Sequencing Primer
(F):5'- AGGTACAGGTCGAGATTGCTG -3'
(R):5'- TGGCCACCTAGAAAATTCCCATTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation