Incidental Mutation 'IGL01814:Slc9a3'
| ID |
154335 |
| 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 |
NHE3, NHE-3, 9030624O13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74314091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 800
(R800S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035934]
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035934
|
| SMART Domains |
Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
187 |
743 |
1.7e-162 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036208
AA Change: R800S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: R800S
| 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: R800S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225423
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
A |
18: 67,538,544 (GRCm39) |
N738I |
probably benign |
Het |
| B3galnt2 |
A |
G |
13: 14,161,938 (GRCm39) |
S1G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,518,509 (GRCm39) |
I484V |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,901,849 (GRCm39) |
K8R |
probably benign |
Het |
| Csmd1 |
A |
C |
8: 16,551,389 (GRCm39) |
L279R |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 49,997,935 (GRCm39) |
V708F |
probably damaging |
Het |
| Dnajc24 |
C |
T |
2: 105,811,429 (GRCm39) |
G49R |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,301,237 (GRCm39) |
M198T |
probably benign |
Het |
| Dtx3l |
T |
A |
16: 35,751,872 (GRCm39) |
D683V |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,753 (GRCm39) |
T1425A |
probably damaging |
Het |
| Enpp3 |
G |
A |
10: 24,667,923 (GRCm39) |
P510S |
possibly damaging |
Het |
| Iars2 |
G |
T |
1: 185,034,972 (GRCm39) |
Y590* |
probably null |
Het |
| Itgb7 |
T |
C |
15: 102,131,852 (GRCm39) |
R244G |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,134,044 (GRCm39) |
R1820S |
probably benign |
Het |
| Matn3 |
T |
C |
12: 9,002,091 (GRCm39) |
V101A |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,285,003 (GRCm39) |
V127M |
probably damaging |
Het |
| Or56a5 |
T |
C |
7: 104,792,811 (GRCm39) |
I236V |
possibly damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,892 (GRCm39) |
C169* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,147,939 (GRCm39) |
M1V |
probably null |
Het |
| Pdk4 |
A |
G |
6: 5,491,828 (GRCm39) |
|
probably null |
Het |
| Ptchd4 |
A |
T |
17: 42,814,177 (GRCm39) |
I693F |
possibly damaging |
Het |
| Scml4 |
C |
T |
10: 42,811,041 (GRCm39) |
R194C |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,220,877 (GRCm39) |
V436A |
probably benign |
Het |
| Smchd1 |
C |
A |
17: 71,685,182 (GRCm39) |
M1415I |
probably benign |
Het |
| Syndig1 |
T |
A |
2: 149,741,690 (GRCm39) |
I92N |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,377,656 (GRCm39) |
V120A |
possibly damaging |
Het |
| Thumpd3 |
C |
T |
6: 113,040,112 (GRCm39) |
T332I |
possibly damaging |
Het |
| Tmem101 |
G |
A |
11: 102,044,284 (GRCm39) |
T201M |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,850,747 (GRCm39) |
T1106A |
probably damaging |
Het |
| Ttc41 |
C |
T |
10: 86,566,890 (GRCm39) |
R519C |
probably damaging |
Het |
| Xirp1 |
T |
A |
9: 119,846,985 (GRCm39) |
M633L |
probably damaging |
Het |
| Zfp938 |
A |
T |
10: 82,062,052 (GRCm39) |
D189E |
probably benign |
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 |
|
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 |
|
R0359:Slc9a3
|
UTSW |
13 |
74,305,726 (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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation