Incidental Mutation 'R0359:Slc9a3'
| ID |
30016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a3
|
| Ensembl Gene |
ENSMUSG00000036123 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
| Synonyms |
NHE3, NHE-3, 9030624O13Rik |
| MMRRC Submission |
038565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74305726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 248
(S248A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036208
AA Change: S248A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: S248A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
53 |
457 |
3.6e-87 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221703
AA Change: S248A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225423
AA Change: S248A
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.4579 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
100% (65/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,181 (GRCm39) |
Y255* |
probably null |
Het |
| 2310003L06Rik |
A |
T |
5: 88,112,455 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,904,067 (GRCm39) |
S213P |
probably damaging |
Het |
| Agpat1 |
A |
G |
17: 34,829,551 (GRCm39) |
I42V |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| BB014433 |
G |
T |
8: 15,092,540 (GRCm39) |
C104* |
probably null |
Het |
| Bsn |
C |
T |
9: 107,989,045 (GRCm39) |
G2236S |
possibly damaging |
Het |
| Casp9 |
A |
G |
4: 141,521,221 (GRCm39) |
E19G |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,163 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,959,760 (GRCm39) |
M797L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,271,264 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,232,964 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
A |
9: 105,874,345 (GRCm39) |
H2214L |
probably benign |
Het |
| Ctu2 |
T |
G |
8: 123,204,932 (GRCm39) |
S72R |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,333,619 (GRCm39) |
M245L |
possibly damaging |
Het |
| Dgkb |
T |
A |
12: 38,266,030 (GRCm39) |
V503E |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,206,938 (GRCm39) |
R501G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,109,874 (GRCm39) |
D1453G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,420,357 (GRCm39) |
T119M |
probably benign |
Het |
| F5 |
T |
G |
1: 164,007,018 (GRCm39) |
V274G |
probably damaging |
Het |
| Farp1 |
A |
T |
14: 121,492,808 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,619,891 (GRCm39) |
|
probably null |
Het |
| Foxf1 |
T |
C |
8: 121,811,742 (GRCm39) |
V202A |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,910,449 (GRCm39) |
V3293I |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,032 (GRCm39) |
G602D |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,269 (GRCm39) |
|
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,988 (GRCm39) |
T591M |
probably benign |
Het |
| Glrx3 |
T |
C |
7: 137,055,214 (GRCm39) |
S119P |
possibly damaging |
Het |
| Gm16485 |
G |
T |
9: 8,972,437 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
C |
5: 100,938,066 (GRCm39) |
N460S |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,108,266 (GRCm39) |
|
probably null |
Het |
| Kpna2 |
A |
G |
11: 106,882,148 (GRCm39) |
L226S |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,454 (GRCm39) |
V448M |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,536,580 (GRCm39) |
S1224P |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,521 (GRCm39) |
F105I |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,721 (GRCm39) |
D94N |
probably benign |
Het |
| Or7a38 |
A |
G |
10: 78,753,177 (GRCm39) |
T168A |
probably benign |
Het |
| Plag1 |
C |
T |
4: 3,904,546 (GRCm39) |
C215Y |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Pot1a |
G |
A |
6: 25,771,679 (GRCm39) |
|
probably benign |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Ppp1r1a |
T |
A |
15: 103,441,915 (GRCm39) |
D51V |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,973,175 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,911,704 (GRCm39) |
V61D |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,798 (GRCm39) |
L605F |
probably damaging |
Het |
| Riok3 |
T |
C |
18: 12,282,006 (GRCm39) |
I325T |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,616,005 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
A |
G |
11: 102,297,395 (GRCm39) |
V24A |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,394,422 (GRCm39) |
C369S |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,181 (GRCm39) |
S285G |
unknown |
Het |
| Stxbp5l |
A |
G |
16: 37,036,440 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,352,030 (GRCm39) |
P1055L |
probably damaging |
Het |
| Tmed3 |
C |
T |
9: 89,581,842 (GRCm39) |
S207N |
possibly damaging |
Het |
| Trerf1 |
G |
T |
17: 47,652,062 (GRCm39) |
|
noncoding transcript |
Het |
| Triml1 |
A |
T |
8: 43,583,542 (GRCm39) |
V353E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,549,401 (GRCm39) |
R31759C |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,398,443 (GRCm39) |
Q331R |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,588,048 (GRCm39) |
I420T |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,201 (GRCm39) |
L299Q |
probably damaging |
Het |
| Vmn1r81 |
T |
A |
7: 11,993,877 (GRCm39) |
T244S |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,618,941 (GRCm39) |
F2875S |
probably damaging |
Het |
| Wscd1 |
A |
G |
11: 71,657,692 (GRCm39) |
M166V |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,313,864 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,689 (GRCm39) |
H737R |
probably damaging |
Het |
|
| Other mutations in Slc9a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Slc9a3
|
APN |
13 |
74,308,421 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01299:Slc9a3
|
APN |
13 |
74,308,382 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01390:Slc9a3
|
APN |
13 |
74,298,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01814:Slc9a3
|
APN |
13 |
74,314,091 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02020:Slc9a3
|
APN |
13 |
74,306,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02072:Slc9a3
|
APN |
13 |
74,313,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02186:Slc9a3
|
APN |
13 |
74,311,233 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02878:Slc9a3
|
APN |
13 |
74,313,476 (GRCm39) |
nonsense |
probably null |
|
|
IGL03056:Slc9a3
|
APN |
13 |
74,298,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Slc9a3
|
UTSW |
13 |
74,306,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0280:Slc9a3
|
UTSW |
13 |
74,307,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Slc9a3
|
UTSW |
13 |
74,269,655 (GRCm39) |
missense |
unknown |
|
|
R0396:Slc9a3
|
UTSW |
13 |
74,305,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0893:Slc9a3
|
UTSW |
13 |
74,307,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Slc9a3
|
UTSW |
13 |
74,298,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1640:Slc9a3
|
UTSW |
13 |
74,306,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Slc9a3
|
UTSW |
13 |
74,311,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1850:Slc9a3
|
UTSW |
13 |
74,309,889 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1937:Slc9a3
|
UTSW |
13 |
74,314,175 (GRCm39) |
splice site |
probably null |
|
|
R2048:Slc9a3
|
UTSW |
13 |
74,311,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Slc9a3
|
UTSW |
13 |
74,269,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Slc9a3
|
UTSW |
13 |
74,306,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2883:Slc9a3
|
UTSW |
13 |
74,306,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Slc9a3
|
UTSW |
13 |
74,269,788 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4538:Slc9a3
|
UTSW |
13 |
74,309,851 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4580:Slc9a3
|
UTSW |
13 |
74,307,005 (GRCm39) |
nonsense |
probably null |
|
|
R4581:Slc9a3
|
UTSW |
13 |
74,312,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4841:Slc9a3
|
UTSW |
13 |
74,313,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Slc9a3
|
UTSW |
13 |
74,305,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Slc9a3
|
UTSW |
13 |
74,312,412 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5079:Slc9a3
|
UTSW |
13 |
74,312,406 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5329:Slc9a3
|
UTSW |
13 |
74,299,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5663:Slc9a3
|
UTSW |
13 |
74,311,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5876:Slc9a3
|
UTSW |
13 |
74,309,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Slc9a3
|
UTSW |
13 |
74,306,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6060:Slc9a3
|
UTSW |
13 |
74,299,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Slc9a3
|
UTSW |
13 |
74,303,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Slc9a3
|
UTSW |
13 |
74,312,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7145:Slc9a3
|
UTSW |
13 |
74,298,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7422:Slc9a3
|
UTSW |
13 |
74,299,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Slc9a3
|
UTSW |
13 |
74,305,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Slc9a3
|
UTSW |
13 |
74,308,395 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8032:Slc9a3
|
UTSW |
13 |
74,305,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Slc9a3
|
UTSW |
13 |
74,314,146 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8158:Slc9a3
|
UTSW |
13 |
74,303,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Slc9a3
|
UTSW |
13 |
74,312,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8837:Slc9a3
|
UTSW |
13 |
74,305,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Slc9a3
|
UTSW |
13 |
74,311,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9111:Slc9a3
|
UTSW |
13 |
74,298,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9741:Slc9a3
|
UTSW |
13 |
74,306,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Slc9a3
|
UTSW |
13 |
74,313,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATGCCCTCTACCATGTAGTC -3'
(R):5'- GGAACTTACGCCAGGATGGATGAC -3'
Sequencing Primer
(F):5'- TCCTGCACTAAACTTGGAGATCAG -3'
(R):5'- TGGATGACAAAGACAGCATCTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation