Incidental Mutation 'R7679:Slc9a3'
| ID |
592664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a3
|
| Ensembl Gene |
ENSMUSG00000036123 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
| Synonyms |
9030624O13Rik, NHE-3, NHE3 |
| MMRRC Submission |
045707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74121457-74169442 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74160276 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 466
(R466H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036208
AA Change: R466H
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: R466H
| 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 |
possibly damaging
Transcript: ENSMUST00000221703
AA Change: R466H
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225423
AA Change: R466H
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
C |
14: 78,514,816 (GRCm38) |
Y206D |
|
Het |
| Atm |
A |
T |
9: 53,442,497 (GRCm38) |
I2906N |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 141,067,765 (GRCm38) |
V422A |
probably benign |
Het |
| Bod1l |
TTCAGGGATC |
TTC |
5: 41,820,643 (GRCm38) |
|
probably null |
Het |
| Ccar2 |
G |
A |
14: 70,139,235 (GRCm38) |
Q887* |
probably null |
Het |
| Cdh13 |
A |
G |
8: 119,236,919 (GRCm38) |
I413V |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,967,512 (GRCm38) |
V1556A |
probably benign |
Het |
| Chchd7 |
A |
T |
4: 3,941,297 (GRCm38) |
N14Y |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,399,355 (GRCm38) |
T824N |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,811,751 (GRCm38) |
Y859N |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,150,637 (GRCm38) |
P131S |
unknown |
Het |
| Erh |
T |
C |
12: 80,637,571 (GRCm38) |
N44S |
probably benign |
Het |
| Esm1 |
T |
A |
13: 113,210,112 (GRCm38) |
D90E |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,153,632 (GRCm38) |
F213L |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,790 (GRCm38) |
T2262A |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,667,489 (GRCm38) |
Q281R |
probably benign |
Het |
| Gdpgp1 |
G |
T |
7: 80,238,576 (GRCm38) |
E118D |
probably benign |
Het |
| Gnas |
A |
T |
2: 174,284,831 (GRCm38) |
Q53L |
probably damaging |
Het |
| Gpr142 |
G |
A |
11: 114,806,707 (GRCm38) |
V360M |
possibly damaging |
Het |
| Grn |
A |
G |
11: 102,433,069 (GRCm38) |
D46G |
probably benign |
Het |
| H2-T10 |
A |
G |
17: 36,119,324 (GRCm38) |
F242L |
not run |
Het |
| Hgsnat |
T |
C |
8: 25,954,637 (GRCm38) |
T428A |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,224,308 (GRCm38) |
I251T |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,694,523 (GRCm38) |
T866I |
possibly damaging |
Het |
| Itgb1 |
T |
A |
8: 128,720,448 (GRCm38) |
N481K |
probably damaging |
Het |
| Leng9 |
C |
A |
7: 4,149,660 (GRCm38) |
D6Y |
probably benign |
Het |
| Lox |
A |
C |
18: 52,525,106 (GRCm38) |
F332V |
possibly damaging |
Het |
| Lrp1 |
G |
T |
10: 127,588,428 (GRCm38) |
Y796* |
probably null |
Het |
| Lrrc32 |
G |
A |
7: 98,499,687 (GRCm38) |
G558D |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,726,186 (GRCm38) |
E707G |
possibly damaging |
Het |
| Matn4 |
A |
G |
2: 164,389,658 (GRCm38) |
*625R |
probably null |
Het |
| Mcur1 |
T |
A |
13: 43,544,483 (GRCm38) |
K314* |
probably null |
Het |
| Med1 |
G |
C |
11: 98,156,061 (GRCm38) |
P1303R |
unknown |
Het |
| Mgam |
T |
C |
6: 40,643,046 (GRCm38) |
L23P |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,637,746 (GRCm38) |
P2338R |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,607,990 (GRCm38) |
I936V |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,173,316 (GRCm38) |
S557G |
probably benign |
Het |
| Palb2 |
A |
G |
7: 122,128,014 (GRCm38) |
I211T |
probably benign |
Het |
| Pard3 |
T |
C |
8: 127,371,846 (GRCm38) |
V456A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,760,937 (GRCm38) |
V40M |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 99,088,607 (GRCm38) |
K344E |
probably benign |
Het |
| Pik3r3 |
T |
A |
4: 116,256,195 (GRCm38) |
M45K |
probably benign |
Het |
| Plat |
G |
T |
8: 22,772,232 (GRCm38) |
G91W |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,634 (GRCm38) |
V196A |
probably benign |
Het |
| Ppp1r32 |
T |
C |
19: 10,482,254 (GRCm38) |
T30A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,831,319 (GRCm38) |
I3719N |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 17,093,760 (GRCm38) |
G123S |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,878,425 (GRCm38) |
D1815G |
probably damaging |
Het |
| Rpe65 |
C |
T |
3: 159,604,393 (GRCm38) |
T101I |
probably damaging |
Het |
| Rpp25l |
A |
C |
4: 41,712,326 (GRCm38) |
C150G |
unknown |
Het |
| Serpina1b |
A |
T |
12: 103,730,515 (GRCm38) |
W212R |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,236,038 (GRCm38) |
L17P |
unknown |
Het |
| Speg |
C |
T |
1: 75,406,315 (GRCm38) |
T1056I |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,391,971 (GRCm38) |
F281L |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,603,708 (GRCm38) |
V1032I |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,399,051 (GRCm38) |
S270T |
probably benign |
Het |
| Txndc15 |
G |
T |
13: 55,725,808 (GRCm38) |
R327L |
probably damaging |
Het |
| Zfp169 |
G |
C |
13: 48,498,383 (GRCm38) |
L66V |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,410,997 (GRCm38) |
Y45* |
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,893,278 (GRCm38) |
D2003G |
probably benign |
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 |
|
IGL01390:Slc9a3
|
APN |
13 |
74,150,761 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGCCAATGGGTTCATGG -3'
(R):5'- GTCCAATTTGTCCTGAGATGTCC -3'
Sequencing Primer
(F):5'- CAATGGGTTCATGGGTCCC -3'
(R):5'- TCGAAAGCCTTTCAGAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation