Incidental Mutation 'R6060:Slc9a3'
ID |
483204 |
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 |
044426-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6060 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74299004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 141
(Y141C)
|
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: Y141C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038142 Gene: ENSMUSG00000036123 AA Change: Y141C
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: Y141C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225423
AA Change: Y141C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.8795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (56/56) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
A |
G |
16: 88,966,630 (GRCm39) |
|
probably null |
Het |
Adh1 |
T |
C |
3: 137,992,544 (GRCm39) |
I220T |
probably damaging |
Het |
Ajap1 |
G |
A |
4: 153,516,699 (GRCm39) |
T214I |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,749,601 (GRCm39) |
F476S |
probably damaging |
Het |
Atp6v1g3 |
A |
G |
1: 138,201,582 (GRCm39) |
K27E |
possibly damaging |
Het |
BC034090 |
A |
G |
1: 155,117,245 (GRCm39) |
I291T |
probably benign |
Het |
Cnot9 |
T |
A |
1: 74,556,285 (GRCm39) |
N27K |
probably benign |
Het |
Cyp2c70 |
A |
T |
19: 40,153,857 (GRCm39) |
L244* |
probably null |
Het |
Cyp2d22 |
T |
C |
15: 82,260,086 (GRCm39) |
T6A |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,107,799 (GRCm39) |
E1829G |
probably damaging |
Het |
Dnajc4 |
G |
T |
19: 6,968,093 (GRCm39) |
S61* |
probably null |
Het |
Dpysl4 |
A |
G |
7: 138,669,324 (GRCm39) |
M1V |
probably null |
Het |
Fam149a |
T |
A |
8: 45,811,799 (GRCm39) |
|
probably benign |
Het |
Fam184b |
T |
C |
5: 45,710,489 (GRCm39) |
E547G |
probably damaging |
Het |
Fam47e |
T |
A |
5: 92,727,472 (GRCm39) |
F127I |
possibly damaging |
Het |
Ifi207 |
G |
A |
1: 173,558,093 (GRCm39) |
T215I |
unknown |
Het |
Iftap |
T |
C |
2: 101,440,950 (GRCm39) |
K18E |
probably benign |
Het |
Lpxn |
T |
C |
19: 12,810,489 (GRCm39) |
L311P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,640,946 (GRCm39) |
N3499K |
|
Het |
Mknk2 |
A |
T |
10: 80,507,468 (GRCm39) |
D76E |
probably benign |
Het |
Nectin2 |
A |
T |
7: 19,451,700 (GRCm39) |
Y445N |
probably damaging |
Het |
Ngb |
A |
C |
12: 87,146,963 (GRCm39) |
S85A |
probably benign |
Het |
Nrp1 |
C |
A |
8: 129,224,419 (GRCm39) |
H727Q |
probably damaging |
Het |
Or5b112 |
C |
T |
19: 13,319,497 (GRCm39) |
A125V |
probably benign |
Het |
Or6k2 |
C |
A |
1: 173,986,907 (GRCm39) |
C189* |
probably null |
Het |
Pold3 |
A |
C |
7: 99,749,819 (GRCm39) |
Y115* |
probably null |
Het |
Ppp1r12b |
C |
G |
1: 134,883,262 (GRCm39) |
V87L |
probably benign |
Het |
Ppp1r26 |
A |
G |
2: 28,341,042 (GRCm39) |
N224S |
probably benign |
Het |
Prl7a1 |
G |
A |
13: 27,821,571 (GRCm39) |
P122S |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,289,612 (GRCm39) |
H400R |
possibly damaging |
Het |
Rnf32 |
A |
T |
5: 29,411,752 (GRCm39) |
I214L |
probably benign |
Het |
Safb2 |
A |
T |
17: 56,870,246 (GRCm39) |
|
probably null |
Het |
Serpinb6e |
A |
G |
13: 34,025,256 (GRCm39) |
C12R |
possibly damaging |
Het |
Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
Slc12a4 |
G |
A |
8: 106,672,338 (GRCm39) |
A821V |
probably damaging |
Het |
Slc41a1 |
A |
G |
1: 131,767,972 (GRCm39) |
M179V |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,522,918 (GRCm39) |
V1450I |
probably damaging |
Het |
Trmt1l |
A |
G |
1: 151,333,331 (GRCm39) |
N642S |
possibly damaging |
Het |
Ttll13 |
G |
A |
7: 79,908,491 (GRCm39) |
R576H |
probably damaging |
Het |
Zar1 |
T |
A |
5: 72,738,272 (GRCm39) |
R43S |
probably benign |
Het |
Zfp455 |
A |
G |
13: 67,355,257 (GRCm39) |
Y175C |
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 |
|
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 |
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'- ACAAGGTCACCAGTATCGTCC -3'
(R):5'- TTACTTAAGTAGTCCACAGAGACACTG -3'
Sequencing Primer
(F):5'- AGTGCTCTACTCATCGTTCTGGG -3'
(R):5'- GAGACACTGCCCGTCATC -3'
|
Posted On |
2017-07-14 |