Incidental Mutation 'R8837:Slc9a3'
| ID |
674239 |
| 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 |
068665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74121457-74169442 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74157704 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 280
(I280N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036208
AA Change: I280N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I280N
| 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: I280N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225423
AA Change: I280N
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| Abcb4 |
T |
G |
5: 8,936,873 (GRCm38) |
F764C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,834,212 (GRCm38) |
D739G |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,978,555 (GRCm38) |
Y1012C |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 113,329,926 (GRCm38) |
T206A |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,628,634 (GRCm38) |
A650S |
possibly damaging |
Het |
| Catsper1 |
A |
C |
19: 5,336,042 (GRCm38) |
N101T |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,324,976 (GRCm38) |
S2070R |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,861,772 (GRCm38) |
V2775A |
probably benign |
Het |
| Clybl |
G |
A |
14: 122,181,782 (GRCm38) |
|
probably null |
Het |
| Cog4 |
T |
A |
8: 110,852,372 (GRCm38) |
N148K |
probably benign |
Het |
| Dbnl |
G |
A |
11: 5,791,839 (GRCm38) |
G44D |
possibly damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,849,766 (GRCm38) |
N276K |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,855,234 (GRCm38) |
T4018S |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,897,340 (GRCm38) |
L72P |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,206,045 (GRCm38) |
T51A |
probably benign |
Het |
| Fam214b |
A |
G |
4: 43,034,531 (GRCm38) |
S355P |
probably damaging |
Het |
| Fars2 |
T |
A |
13: 36,246,426 (GRCm38) |
I279N |
probably damaging |
Het |
| Fas |
A |
T |
19: 34,318,649 (GRCm38) |
Q164L |
probably benign |
Het |
| Focad |
A |
G |
4: 88,154,668 (GRCm38) |
K107E |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,588,479 (GRCm38) |
S338L |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,930,035 (GRCm38) |
R91G |
probably damaging |
Het |
| Igkv3-7 |
A |
G |
6: 70,607,958 (GRCm38) |
D94G |
possibly damaging |
Het |
| Kank3 |
G |
C |
17: 33,817,653 (GRCm38) |
R165P |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,864,167 (GRCm38) |
L434Q |
unknown |
Het |
| Krt18 |
A |
G |
15: 102,029,830 (GRCm38) |
T163A |
possibly damaging |
Het |
| Lcn10 |
T |
A |
2: 25,685,286 (GRCm38) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,503,969 (GRCm38) |
P210Q |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,677,963 (GRCm38) |
S2183T |
probably benign |
Het |
| Mga |
G |
A |
2: 119,938,791 (GRCm38) |
|
probably benign |
Het |
| Myh9 |
G |
A |
15: 77,776,937 (GRCm38) |
A818V |
possibly damaging |
Het |
| Olfr344 |
T |
C |
2: 36,568,691 (GRCm38) |
I31T |
probably benign |
Het |
| Olfr906 |
A |
T |
9: 38,488,301 (GRCm38) |
I91F |
probably benign |
Het |
| Olfr98 |
G |
T |
17: 37,262,916 (GRCm38) |
Y249* |
probably null |
Het |
| Pde7b |
A |
G |
10: 20,438,723 (GRCm38) |
|
probably null |
Het |
| Pik3cb |
A |
T |
9: 99,054,064 (GRCm38) |
Y772N |
possibly damaging |
Het |
| Ppl |
C |
G |
16: 5,088,990 (GRCm38) |
R1147P |
probably damaging |
Het |
| Prl3d2 |
A |
T |
13: 27,123,943 (GRCm38) |
D69V |
probably benign |
Het |
| Psd3 |
A |
G |
8: 67,719,944 (GRCm38) |
F871L |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,188,235 (GRCm38) |
P152S |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,313,341 (GRCm38) |
E270G |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,530,995 (GRCm38) |
T209A |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,792,344 (GRCm38) |
L669P |
probably damaging |
Het |
| Sec31b |
A |
T |
19: 44,517,667 (GRCm38) |
C933* |
probably null |
Het |
| Serpina3k |
G |
T |
12: 104,343,033 (GRCm38) |
M245I |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,434,202 (GRCm38) |
V412A |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,702,782 (GRCm38) |
S511T |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,275,663 (GRCm38) |
V1455E |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 126,372,421 (GRCm38) |
S319F |
possibly damaging |
Het |
| Tbxas1 |
G |
T |
6: 39,071,430 (GRCm38) |
M403I |
|
Het |
| Tln2 |
A |
T |
9: 67,250,584 (GRCm38) |
C1158S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,793,056 (GRCm38) |
T98A |
possibly damaging |
Het |
| Ttc23 |
T |
C |
7: 67,669,746 (GRCm38) |
L118P |
probably damaging |
Het |
| Tyr |
T |
A |
7: 87,438,015 (GRCm38) |
I430L |
probably damaging |
Het |
| Uck2 |
A |
G |
1: 167,243,146 (GRCm38) |
F5L |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,753,650 (GRCm38) |
V2986I |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,582,626 (GRCm38) |
D266G |
probably benign |
Het |
| Wdr34 |
T |
C |
2: 30,038,362 (GRCm38) |
D84G |
probably benign |
Het |
| Yrdc |
A |
G |
4: 124,853,884 (GRCm38) |
D213G |
probably benign |
Het |
| Zfp612 |
C |
A |
8: 110,088,971 (GRCm38) |
T270K |
probably damaging |
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 |
|
R7679:Slc9a3
|
UTSW |
13 |
74,160,276 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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'- TTGCCAGGAGCTTTCCATG -3'
(R):5'- GATACCCTCTGCTCACAGTG -3'
Sequencing Primer
(F):5'- TCCATGGGGAATGAGTAGCC -3'
(R):5'- CCTTCTGCCGGAGTTTAAATGCAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation