Incidental Mutation 'IGL03056:Slc9a3'
| ID |
409223 |
| 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 # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74298938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 119
(V119E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036208
AA Change: V119E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: V119E
| 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: V119E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225423
AA Change: V119E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,705 (GRCm39) |
Y262* |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,386,736 (GRCm39) |
V268A |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Tcf4 |
G |
T |
18: 69,784,283 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,535 (GRCm39) |
V183A |
probably damaging |
Het |
| Ust |
T |
C |
10: 8,083,326 (GRCm39) |
H350R |
probably benign |
Het |
| Zfp952 |
T |
A |
17: 33,221,740 (GRCm39) |
V35E |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation