Incidental Mutation 'IGL02621:Slc9a1'
| ID |
300857 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc9a1
|
| Ensembl Gene |
ENSMUSG00000028854 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 1 |
| Synonyms |
Nhe-1, Nhe1, antiporter, Apnh |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02621
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133097879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 9
(W9R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
| AlphaFold |
Q61165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030669
AA Change: W9R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: W9R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
33 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
109 |
509 |
1.3e-89 |
PFAM |
|
Pfam:NEXCaM_BD
|
603 |
704 |
1.5e-34 |
PFAM |
|
low complexity region
|
757 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6) Spontaneous(1) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
C |
A |
12: 3,476,688 (GRCm39) |
|
probably benign |
Het |
| 2210408I21Rik |
T |
C |
13: 77,408,150 (GRCm39) |
I159T |
possibly damaging |
Het |
| Agpat3 |
T |
A |
10: 78,120,900 (GRCm39) |
I93F |
probably damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,790,453 (GRCm39) |
A1598T |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,095,633 (GRCm39) |
|
probably benign |
Het |
| Clk1 |
T |
C |
1: 58,453,614 (GRCm39) |
D324G |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,537,355 (GRCm39) |
D742V |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,468,735 (GRCm39) |
N16S |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,564,755 (GRCm39) |
Y1184* |
probably null |
Het |
| Hint1 |
G |
T |
11: 54,761,011 (GRCm39) |
|
probably benign |
Het |
| Itch |
A |
T |
2: 155,014,504 (GRCm39) |
|
probably null |
Het |
| Lmod3 |
T |
C |
6: 97,215,796 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
C |
A |
17: 12,482,900 (GRCm39) |
A606S |
probably damaging |
Het |
| Mapk4 |
A |
T |
18: 74,103,346 (GRCm39) |
S54R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,601,214 (GRCm39) |
D807G |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,325,326 (GRCm39) |
T398A |
possibly damaging |
Het |
| Nme8 |
T |
G |
13: 19,859,818 (GRCm39) |
K28N |
probably damaging |
Het |
| Pamr1 |
A |
G |
2: 102,464,688 (GRCm39) |
N279S |
probably benign |
Het |
| Pcca |
A |
T |
14: 122,922,391 (GRCm39) |
D384V |
probably damaging |
Het |
| Prkag1 |
A |
T |
15: 98,711,909 (GRCm39) |
I239N |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,798,131 (GRCm39) |
T1375A |
probably benign |
Het |
| Ptk2 |
A |
C |
15: 73,077,994 (GRCm39) |
L1024R |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,698,269 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,579,223 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,538,802 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
T |
4: 59,062,668 (GRCm39) |
W863R |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,187,741 (GRCm39) |
M533L |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,726,643 (GRCm39) |
S720T |
probably damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,780 (GRCm39) |
R212S |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,494 (GRCm39) |
I203V |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
| Other mutations in Slc9a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Slc9a1
|
APN |
4 |
133,097,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00949:Slc9a1
|
APN |
4 |
133,143,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00952:Slc9a1
|
APN |
4 |
133,143,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01023:Slc9a1
|
APN |
4 |
133,149,454 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01151:Slc9a1
|
APN |
4 |
133,139,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Slc9a1
|
APN |
4 |
133,147,404 (GRCm39) |
splice site |
probably benign |
|
|
IGL01896:Slc9a1
|
APN |
4 |
133,145,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F6893:Slc9a1
|
UTSW |
4 |
133,149,457 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0123:Slc9a1
|
UTSW |
4 |
133,147,916 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0134:Slc9a1
|
UTSW |
4 |
133,147,916 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0225:Slc9a1
|
UTSW |
4 |
133,147,916 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0658:Slc9a1
|
UTSW |
4 |
133,147,810 (GRCm39) |
splice site |
probably benign |
|
|
R0759:Slc9a1
|
UTSW |
4 |
133,143,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Slc9a1
|
UTSW |
4 |
133,097,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1110:Slc9a1
|
UTSW |
4 |
133,097,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1316:Slc9a1
|
UTSW |
4 |
133,149,558 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1637:Slc9a1
|
UTSW |
4 |
133,149,534 (GRCm39) |
missense |
probably benign |
|
|
R1680:Slc9a1
|
UTSW |
4 |
133,145,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Slc9a1
|
UTSW |
4 |
133,143,645 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4279:Slc9a1
|
UTSW |
4 |
133,139,400 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4960:Slc9a1
|
UTSW |
4 |
133,097,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Slc9a1
|
UTSW |
4 |
133,149,382 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5590:Slc9a1
|
UTSW |
4 |
133,148,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5638:Slc9a1
|
UTSW |
4 |
133,139,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Slc9a1
|
UTSW |
4 |
133,147,176 (GRCm39) |
intron |
probably benign |
|
|
R6334:Slc9a1
|
UTSW |
4 |
133,149,519 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6402:Slc9a1
|
UTSW |
4 |
133,097,962 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7553:Slc9a1
|
UTSW |
4 |
133,139,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Slc9a1
|
UTSW |
4 |
133,139,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Slc9a1
|
UTSW |
4 |
133,097,753 (GRCm39) |
start gained |
probably benign |
|
|
R8268:Slc9a1
|
UTSW |
4 |
133,097,934 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8359:Slc9a1
|
UTSW |
4 |
133,147,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Slc9a1
|
UTSW |
4 |
133,146,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8887:Slc9a1
|
UTSW |
4 |
133,139,258 (GRCm39) |
missense |
probably benign |
|
|
R9310:Slc9a1
|
UTSW |
4 |
133,143,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Slc9a1
|
UTSW |
4 |
133,145,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation