Incidental Mutation 'IGL00905:Slc9a1'
| ID |
27211 |
| 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 # |
IGL00905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133097859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 2
(M2K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
| AlphaFold |
Q61165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030669
AA Change: M2K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: M2K
| 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
|
| Meta Mutation Damage Score |
0.2835 |
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,753,422 (GRCm39) |
K16I |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
| Fam161b |
C |
T |
12: 84,404,459 (GRCm39) |
V74I |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,466,068 (GRCm39) |
E504G |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
| Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
| Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
| Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
| Pramel25 |
A |
G |
4: 143,521,844 (GRCm39) |
T487A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,465,754 (GRCm39) |
S366G |
probably benign |
Het |
| Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
| Slc25a47 |
C |
A |
12: 108,821,314 (GRCm39) |
T141K |
probably benign |
Het |
| Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
| Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
| Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
| Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
|
| Other mutations in Slc9a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02621:Slc9a1
|
APN |
4 |
133,097,879 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation