Incidental Mutation 'R2938:Slc9a3'
ID |
256122 |
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 |
040515-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2938 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74269788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
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: I52T
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000038142 Gene: ENSMUSG00000036123 AA Change: I52T
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 |
noncoding transcript
Transcript: ENSMUST00000221410
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221703
AA Change: I52T
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225423
AA Change: I52T
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
Arhgap45 |
T |
A |
10: 79,864,836 (GRCm39) |
M933K |
probably damaging |
Het |
Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,795,803 (GRCm39) |
S1315T |
probably damaging |
Het |
Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
Tmub1 |
A |
G |
5: 24,650,922 (GRCm39) |
*261Q |
probably null |
Het |
Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
Vmn2r12 |
C |
T |
5: 109,239,397 (GRCm39) |
E389K |
probably damaging |
Het |
Wdsub1 |
T |
C |
2: 59,703,630 (GRCm39) |
T112A |
possibly damaging |
Het |
Xpo4 |
G |
T |
14: 57,841,897 (GRCm39) |
Q473K |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
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 |
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 |
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 |
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'- GTACTCACCAAGGTATGCGTG -3'
(R):5'- TTCTCAGACTAACAGTGCACC -3'
Sequencing Primer
(F):5'- CACCAAGGTATGCGTGTTGGC -3'
(R):5'- AACAGTGCACCGTGCTCTTG -3'
|
Posted On |
2014-12-29 |