Incidental Mutation 'R5079:Slc9a3'
ID |
387046 |
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 |
042668-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74312406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 668
(N668Y)
|
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: N668Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038142 Gene: ENSMUSG00000036123 AA Change: N668Y
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: N668Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225423
AA Change: N668Y
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.0675 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
Validation Efficiency |
90% (63/70) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
C |
5: 109,885,196 (GRCm39) |
S221G |
probably benign |
Het |
Abca9 |
A |
T |
11: 110,036,395 (GRCm39) |
F571L |
possibly damaging |
Het |
Agbl4 |
T |
A |
4: 111,423,826 (GRCm39) |
M284K |
possibly damaging |
Het |
Ankrd16 |
A |
G |
2: 11,783,710 (GRCm39) |
D104G |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,817,168 (GRCm39) |
D230G |
probably damaging |
Het |
Casc3 |
C |
T |
11: 98,701,252 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,965,153 (GRCm39) |
|
probably null |
Het |
Cpxm2 |
C |
T |
7: 131,756,014 (GRCm39) |
|
probably null |
Het |
Crisp1 |
A |
T |
17: 40,619,867 (GRCm39) |
|
probably null |
Het |
Crybg2 |
T |
C |
4: 133,801,564 (GRCm39) |
I908T |
possibly damaging |
Het |
Csn3 |
T |
C |
5: 88,077,626 (GRCm39) |
V44A |
possibly damaging |
Het |
Dipk1c |
A |
T |
18: 84,748,702 (GRCm39) |
H100L |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,369,474 (GRCm39) |
D102E |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,525,705 (GRCm39) |
Y111C |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,910,423 (GRCm39) |
S1860G |
probably benign |
Het |
Gba2 |
G |
T |
4: 43,568,640 (GRCm39) |
|
probably benign |
Het |
Ggta1 |
A |
G |
2: 35,312,249 (GRCm39) |
I43T |
possibly damaging |
Het |
Glb1l2 |
T |
C |
9: 26,682,405 (GRCm39) |
I149V |
probably benign |
Het |
Gm5084 |
T |
A |
13: 60,360,639 (GRCm39) |
|
noncoding transcript |
Het |
Gm5591 |
G |
T |
7: 38,221,560 (GRCm39) |
P170T |
probably benign |
Het |
Gucy2d |
A |
T |
7: 98,107,475 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
C |
17: 27,317,397 (GRCm39) |
F851L |
probably damaging |
Het |
Kat2b |
T |
A |
17: 53,970,666 (GRCm39) |
I684N |
probably damaging |
Het |
Klra17 |
C |
A |
6: 129,849,159 (GRCm39) |
K138N |
possibly damaging |
Het |
Lrrc4 |
T |
A |
6: 28,830,769 (GRCm39) |
H282L |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,931,938 (GRCm39) |
I3522T |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,044,000 (GRCm39) |
T312A |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,844,214 (GRCm39) |
R313G |
probably damaging |
Het |
N4bp2 |
G |
A |
5: 65,969,320 (GRCm39) |
G1361R |
probably damaging |
Het |
Nbas |
A |
T |
12: 13,424,712 (GRCm39) |
I984F |
probably damaging |
Het |
Ncor1 |
T |
A |
11: 62,236,063 (GRCm39) |
Q579L |
possibly damaging |
Het |
Nme9 |
A |
G |
9: 99,341,755 (GRCm39) |
Y35C |
probably damaging |
Het |
Or5w13 |
C |
A |
2: 87,523,552 (GRCm39) |
V225F |
probably damaging |
Het |
Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
Paxbp1 |
C |
A |
16: 90,822,034 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
C |
A |
12: 82,025,863 (GRCm39) |
S1530* |
probably null |
Het |
Pogk |
A |
G |
1: 166,226,733 (GRCm39) |
W473R |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,976,801 (GRCm39) |
S374T |
probably benign |
Het |
Rcn1 |
A |
G |
2: 105,229,402 (GRCm39) |
F50S |
probably damaging |
Het |
Rcvrn |
T |
A |
11: 67,593,767 (GRCm39) |
I186N |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,298,619 (GRCm39) |
I664N |
probably damaging |
Het |
Sall2 |
G |
T |
14: 52,552,211 (GRCm39) |
A326E |
probably damaging |
Het |
Sh2d6 |
G |
A |
6: 72,496,833 (GRCm39) |
P66S |
probably benign |
Het |
Slc6a20b |
T |
A |
9: 123,427,563 (GRCm39) |
S449C |
probably damaging |
Het |
Slco1a8 |
A |
C |
6: 141,918,073 (GRCm39) |
I601R |
probably benign |
Het |
Sorcs2 |
T |
G |
5: 36,200,796 (GRCm39) |
K584T |
probably damaging |
Het |
Stam |
T |
C |
2: 14,079,350 (GRCm39) |
M8T |
probably benign |
Het |
Styk1 |
G |
A |
6: 131,278,676 (GRCm39) |
P333S |
probably damaging |
Het |
Sycp1 |
A |
G |
3: 102,786,116 (GRCm39) |
C589R |
possibly damaging |
Het |
Tas2r123 |
A |
G |
6: 132,824,681 (GRCm39) |
I193V |
probably benign |
Het |
Tnks1bp1 |
C |
A |
2: 84,892,970 (GRCm39) |
Q304K |
probably damaging |
Het |
Traf3ip2 |
T |
C |
10: 39,502,473 (GRCm39) |
L207P |
probably damaging |
Het |
Usp49 |
A |
G |
17: 47,984,146 (GRCm39) |
S384G |
possibly damaging |
Het |
Vezt |
T |
C |
10: 93,856,486 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
C |
A |
7: 12,866,253 (GRCm39) |
M11I |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,026,489 (GRCm39) |
V504A |
probably benign |
Het |
Wapl |
G |
A |
14: 34,446,714 (GRCm39) |
A607T |
probably damaging |
Het |
Zfp638 |
A |
G |
6: 83,906,438 (GRCm39) |
N201S |
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 |
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 |
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'- TGCCTTCTTCTCAGACAAGGG -3'
(R):5'- GCAGGAATTTGGTCTCTGCTC -3'
Sequencing Primer
(F):5'- ATGAGCTGGAGATCCTGTGACC -3'
(R):5'- GTCTCTGCTCTGGTGAAAGTC -3'
|
Posted On |
2016-06-06 |