Incidental Mutation 'IGL01390:Slc9a3'
| ID |
79163 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc9a3
|
| Ensembl Gene |
ENSMUSG00000036123 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
| Synonyms |
9030624O13Rik, NHE-3, NHE3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74121457-74169442 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 74150761 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 100
(I100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036208
AA Change: I100L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I100L
| 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 benign
Transcript: ENSMUST00000221703
AA Change: I100L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225423
AA Change: I100L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a1 |
A |
G |
11: 101,043,802 (GRCm38) |
K565R |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,943,591 (GRCm38) |
T158A |
possibly damaging |
Het |
| Ccdc129 |
C |
T |
6: 55,897,998 (GRCm38) |
P311L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,411,540 (GRCm38) |
D3685G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,745,047 (GRCm38) |
I236T |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,803,045 (GRCm38) |
V1803A |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 132,003,737 (GRCm38) |
I178V |
probably benign |
Het |
| Gm10110 |
C |
A |
14: 89,898,241 (GRCm38) |
|
noncoding transcript |
Het |
| Hist1h2ac |
T |
C |
13: 23,683,516 (GRCm38) |
|
probably benign |
Het |
| Hoxb7 |
A |
C |
11: 96,287,011 (GRCm38) |
N95T |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,570,642 (GRCm38) |
C116F |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,218,679 (GRCm38) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,710,705 (GRCm38) |
Y649H |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,838,078 (GRCm38) |
|
probably benign |
Het |
| Msi1 |
T |
A |
5: 115,438,721 (GRCm38) |
D137E |
possibly damaging |
Het |
| Olfr1037 |
T |
C |
2: 86,085,640 (GRCm38) |
I46V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,161,928 (GRCm38) |
Y507C |
probably benign |
Het |
| Prl7d1 |
A |
G |
13: 27,710,166 (GRCm38) |
V140A |
possibly damaging |
Het |
| Rb1 |
T |
A |
14: 73,294,999 (GRCm38) |
I132F |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,571,588 (GRCm38) |
|
probably benign |
Het |
| Rpl18a |
G |
T |
8: 70,895,510 (GRCm38) |
|
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 54,987,429 (GRCm38) |
I1274V |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,790,131 (GRCm38) |
Y996N |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,670,081 (GRCm38) |
L37P |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,427,162 (GRCm38) |
Q440R |
possibly damaging |
Het |
| Tacc3 |
C |
T |
5: 33,668,061 (GRCm38) |
|
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,685,485 (GRCm38) |
Y87F |
probably benign |
Het |
| Tbl2 |
T |
C |
5: 135,156,363 (GRCm38) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,466,465 (GRCm38) |
S410F |
probably damaging |
Het |
|
| Other mutations in Slc9a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Slc9a3
|
APN |
13 |
74,160,302 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01299:Slc9a3
|
APN |
13 |
74,160,263 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL01814:Slc9a3
|
APN |
13 |
74,165,972 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02020:Slc9a3
|
APN |
13 |
74,158,848 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02072:Slc9a3
|
APN |
13 |
74,165,859 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02186:Slc9a3
|
APN |
13 |
74,163,114 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02878:Slc9a3
|
APN |
13 |
74,165,357 (GRCm38) |
nonsense |
probably null |
|
|
IGL03056:Slc9a3
|
APN |
13 |
74,150,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0090:Slc9a3
|
UTSW |
13 |
74,158,728 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0280:Slc9a3
|
UTSW |
13 |
74,159,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0359:Slc9a3
|
UTSW |
13 |
74,157,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0388:Slc9a3
|
UTSW |
13 |
74,121,536 (GRCm38) |
missense |
unknown |
|
|
R0396:Slc9a3
|
UTSW |
13 |
74,157,784 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0893:Slc9a3
|
UTSW |
13 |
74,159,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1169:Slc9a3
|
UTSW |
13 |
74,150,743 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1640:Slc9a3
|
UTSW |
13 |
74,158,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1769:Slc9a3
|
UTSW |
13 |
74,163,071 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1850:Slc9a3
|
UTSW |
13 |
74,161,770 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1937:Slc9a3
|
UTSW |
13 |
74,166,056 (GRCm38) |
splice site |
probably null |
|
|
R2048:Slc9a3
|
UTSW |
13 |
74,163,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Slc9a3
|
UTSW |
13 |
74,121,603 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2495:Slc9a3
|
UTSW |
13 |
74,158,703 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2883:Slc9a3
|
UTSW |
13 |
74,158,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2938:Slc9a3
|
UTSW |
13 |
74,121,669 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4538:Slc9a3
|
UTSW |
13 |
74,161,732 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4580:Slc9a3
|
UTSW |
13 |
74,158,886 (GRCm38) |
nonsense |
probably null |
|
|
R4581:Slc9a3
|
UTSW |
13 |
74,164,165 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4841:Slc9a3
|
UTSW |
13 |
74,165,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4928:Slc9a3
|
UTSW |
13 |
74,157,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4965:Slc9a3
|
UTSW |
13 |
74,164,293 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5079:Slc9a3
|
UTSW |
13 |
74,164,287 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5329:Slc9a3
|
UTSW |
13 |
74,150,960 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5663:Slc9a3
|
UTSW |
13 |
74,163,712 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5876:Slc9a3
|
UTSW |
13 |
74,161,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5919:Slc9a3
|
UTSW |
13 |
74,158,740 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6060:Slc9a3
|
UTSW |
13 |
74,150,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6562:Slc9a3
|
UTSW |
13 |
74,155,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6645:Slc9a3
|
UTSW |
13 |
74,164,172 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7145:Slc9a3
|
UTSW |
13 |
74,150,678 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7422:Slc9a3
|
UTSW |
13 |
74,150,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7565:Slc9a3
|
UTSW |
13 |
74,157,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7679:Slc9a3
|
UTSW |
13 |
74,160,276 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8032:Slc9a3
|
UTSW |
13 |
74,157,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8080:Slc9a3
|
UTSW |
13 |
74,166,027 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8158:Slc9a3
|
UTSW |
13 |
74,155,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8159:Slc9a3
|
UTSW |
13 |
74,164,288 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8837:Slc9a3
|
UTSW |
13 |
74,157,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8939:Slc9a3
|
UTSW |
13 |
74,163,776 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9111:Slc9a3
|
UTSW |
13 |
74,150,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9741:Slc9a3
|
UTSW |
13 |
74,158,875 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1176:Slc9a3
|
UTSW |
13 |
74,165,856 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation