Incidental Mutation 'R0759:Slc9a1'
| ID |
69998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a1
|
| Ensembl Gene |
ENSMUSG00000028854 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 1 |
| Synonyms |
Nhe-1, Nhe1, antiporter, Apnh |
| MMRRC Submission |
038939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133143714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 400
(I400N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
| AlphaFold |
Q61165 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030669
AA Change: I400N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: I400N
| 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: ENSMUST00000132864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156079
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,454 (GRCm39) |
F504I |
possibly damaging |
Het |
| Amdhd2 |
C |
A |
17: 24,380,587 (GRCm39) |
C119F |
probably benign |
Het |
| Arhgef18 |
T |
G |
8: 3,438,822 (GRCm39) |
|
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,290,652 (GRCm39) |
Y76N |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,508,396 (GRCm39) |
N531S |
probably damaging |
Het |
| Ces1c |
G |
A |
8: 93,857,492 (GRCm39) |
Q30* |
probably null |
Het |
| Cltc |
A |
C |
11: 86,627,908 (GRCm39) |
I80S |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,954 (GRCm39) |
C24Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,707,066 (GRCm39) |
I348V |
probably damaging |
Het |
| Elavl1 |
C |
A |
8: 4,339,815 (GRCm39) |
D256Y |
probably damaging |
Het |
| Fubp1 |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGGCGGCGG |
3: 151,916,274 (GRCm39) |
|
probably benign |
Het |
| Gm43434 |
T |
G |
14: 54,382,952 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
A |
2: 129,146,607 (GRCm39) |
D162V |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,745,162 (GRCm39) |
Y1227H |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,020,927 (GRCm39) |
V501I |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,382,998 (GRCm39) |
I1238T |
possibly damaging |
Het |
| Nr0b2 |
A |
T |
4: 133,281,049 (GRCm39) |
Q105L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,088,707 (GRCm39) |
Y431* |
probably null |
Het |
| Plg |
A |
G |
17: 12,629,838 (GRCm39) |
H624R |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,641 (GRCm39) |
S885P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,135,868 (GRCm39) |
L375P |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,106,768 (GRCm39) |
D347G |
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,188,919 (GRCm39) |
V573E |
probably damaging |
Het |
| Slurp1 |
A |
G |
15: 74,598,808 (GRCm39) |
F61S |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,860 (GRCm39) |
E231G |
probably benign |
Het |
| Sned1 |
C |
T |
1: 93,200,286 (GRCm39) |
T564M |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,546,236 (GRCm39) |
D334E |
probably benign |
Het |
| Trp53i11 |
A |
G |
2: 93,029,303 (GRCm39) |
T101A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,299,097 (GRCm39) |
N2514D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,475,124 (GRCm39) |
Y634N |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,385 (GRCm39) |
*312Q |
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGCCTGTAACCTTGCACC -3'
(R):5'- CACACAGACACAGTGCAGCTCTTAG -3'
Sequencing Primer
(F):5'- GTAACCTTGCACCCCGTTC -3'
(R):5'- Ttctctctctctctctctctctctc -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation