Incidental Mutation 'IGL02878:Slc9a3'
| ID |
362717 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc9a3
|
| Ensembl Gene |
ENSMUSG00000036123 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
| Synonyms |
NHE3, NHE-3, 9030624O13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74269576-74317561 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 74313476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 730
(E730*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035934]
[ENSMUST00000036208]
[ENSMUST00000221703]
[ENSMUST00000225423]
|
| AlphaFold |
G3X939 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035934
|
| SMART Domains |
Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
187 |
743 |
1.7e-162 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000036208
AA Change: E730*
|
| SMART Domains |
Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: E730*
| 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 null
Transcript: ENSMUST00000221703
AA Change: E730*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225423
AA Change: E730*
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
| Abce1 |
T |
C |
8: 80,429,636 (GRCm39) |
H95R |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,458,302 (GRCm39) |
M818L |
probably damaging |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,163,160 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
| Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
| Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
| Gapdhs |
C |
T |
7: 30,429,304 (GRCm39) |
|
probably benign |
Het |
| Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
| Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,707,261 (GRCm39) |
Y309C |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
| Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
| Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
| Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
| Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
| Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
| Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
| Or7a41 |
G |
T |
10: 78,871,392 (GRCm39) |
C254F |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
| Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
| Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation