Incidental Mutation 'R9741:Slc9a3'
| ID |
731849 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74306994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 373
(I373N)
|
| 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: I373N
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I373N
| 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: I373N
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225423
AA Change: I373N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,860,339 (GRCm39) |
K35* |
probably null |
Het |
| Apoc3 |
G |
T |
9: 46,145,998 (GRCm39) |
T5K |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,760,730 (GRCm39) |
Y860* |
probably null |
Het |
| Arhgef11 |
T |
C |
3: 87,595,156 (GRCm39) |
S123P |
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,008,081 (GRCm39) |
I464T |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,169,385 (GRCm39) |
Y827F |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,484,695 (GRCm39) |
T122A |
probably benign |
Het |
| Btbd6 |
T |
A |
12: 112,940,923 (GRCm39) |
D173E |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,932,490 (GRCm39) |
I149T |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,132,953 (GRCm39) |
R214C |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,624,114 (GRCm39) |
S372N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,676,735 (GRCm39) |
Y776* |
probably null |
Het |
| Dock9 |
A |
T |
14: 121,877,516 (GRCm39) |
I409N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,156,607 (GRCm39) |
N815K |
probably benign |
Het |
| Fbxw11 |
G |
T |
11: 32,685,358 (GRCm39) |
V398L |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,436,319 (GRCm39) |
F34S |
possibly damaging |
Het |
| Ghsr |
G |
A |
3: 27,428,898 (GRCm39) |
V308I |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| H1f10 |
A |
G |
6: 87,958,200 (GRCm39) |
Y47H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,239,962 (GRCm39) |
F510S |
probably damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,861 (GRCm39) |
V367A |
possibly damaging |
Het |
| Iars1 |
T |
G |
13: 49,844,978 (GRCm39) |
F163C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,383 (GRCm39) |
T1728A |
probably benign |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,995 (GRCm39) |
V56I |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,002,300 (GRCm39) |
I2133N |
|
Het |
| Lrrc37 |
T |
C |
11: 103,504,255 (GRCm39) |
E2571G |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,366 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52z1 |
G |
T |
7: 103,436,941 (GRCm39) |
P181H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,897,224 (GRCm39) |
T562A |
|
Het |
| Ppp1r10 |
G |
A |
17: 36,237,331 (GRCm39) |
R167Q |
possibly damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,103,725 (GRCm39) |
R69W |
probably damaging |
Het |
| Proser2 |
G |
A |
2: 6,105,580 (GRCm39) |
A328V |
probably benign |
Het |
| Rhou |
A |
G |
8: 124,380,914 (GRCm39) |
Y77C |
possibly damaging |
Het |
| Rprml |
T |
A |
11: 103,540,857 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,477,271 (GRCm39) |
C4515Y |
probably benign |
Het |
| Snx21 |
C |
T |
2: 164,634,231 (GRCm39) |
A339V |
probably benign |
Het |
| Srpk1 |
G |
A |
17: 28,818,652 (GRCm39) |
P395S |
probably benign |
Het |
| Syt14 |
A |
T |
1: 192,666,449 (GRCm39) |
S152T |
unknown |
Het |
| Urb2 |
G |
T |
8: 124,755,751 (GRCm39) |
R486L |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,702,564 (GRCm39) |
M7L |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,708,209 (GRCm39) |
D66V |
probably damaging |
Het |
| Znrf2 |
T |
C |
6: 54,855,370 (GRCm39) |
I197T |
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 |
|
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 |
|
Z1176:Slc9a3
|
UTSW |
13 |
74,313,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGAAGTACGTGAAGGCC -3'
(R):5'- CAGGCACTCTGTAGGATGAG -3'
Sequencing Primer
(F):5'- GTACGTGAAGGCCAACATCTCAG -3'
(R):5'- GGATGAGGCAATAATACTGCTCTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation