Incidental Mutation 'R0134:Slc9a1'
| ID |
21812 |
| 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 |
038419-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0134 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133147916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 645
(K645E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
| AlphaFold |
Q61165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030669
AA Change: K645E
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: K645E
| 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: ENSMUST00000141658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156079
|
| Meta Mutation Damage Score |
0.1026 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.4%
- 20x: 93.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
C |
19: 21,575,565 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,335,154 (GRCm39) |
V70L |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
| Ddx50 |
A |
T |
10: 62,457,156 (GRCm39) |
|
probably benign |
Het |
| Dele1 |
G |
A |
18: 38,394,317 (GRCm39) |
V505I |
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
| Efcab14 |
T |
C |
4: 115,597,728 (GRCm39) |
F108L |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,330 (GRCm39) |
N736S |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,948,881 (GRCm39) |
D908G |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
| Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
| Hes1 |
T |
C |
16: 29,886,068 (GRCm39) |
V224A |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,754,619 (GRCm39) |
Q277K |
probably damaging |
Het |
| Ighv15-2 |
T |
G |
12: 114,528,657 (GRCm39) |
|
probably benign |
Het |
| Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,002,168 (GRCm39) |
M91L |
probably benign |
Het |
| Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,514,295 (GRCm39) |
S1215T |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,479,006 (GRCm39) |
V278A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,636 (GRCm39) |
M2835V |
possibly damaging |
Het |
| Map9 |
G |
A |
3: 82,267,290 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,218,657 (GRCm39) |
|
probably benign |
Het |
| Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,490,089 (GRCm39) |
C546Y |
probably damaging |
Het |
| Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,327,172 (GRCm39) |
D123G |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
| Pnp2 |
T |
C |
14: 51,200,634 (GRCm39) |
F100S |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,408,658 (GRCm39) |
L47P |
possibly damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,564,783 (GRCm39) |
S327P |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,583,536 (GRCm39) |
V250A |
probably damaging |
Het |
| Siglecg |
G |
A |
7: 43,060,595 (GRCm39) |
G325D |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 79,423,787 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
T |
C |
9: 21,548,620 (GRCm39) |
L302P |
probably damaging |
Het |
| Smyd1 |
G |
T |
6: 71,193,749 (GRCm39) |
T392N |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 49,127,507 (GRCm39) |
L57Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,067,150 (GRCm39) |
V2269I |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
| Tsfm |
A |
G |
10: 126,858,798 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
| Zfp108 |
A |
G |
7: 23,959,892 (GRCm39) |
H161R |
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,832,002 (GRCm39) |
M1T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTTGGGACATTGGCAACC -3'
(R):5'- GTGTGTCTGTTATAGGACCGCAGC -3'
Sequencing Primer
(F):5'- TTGGCAACCCACCCCTG -3'
(R):5'- CTGAGGGGGGAACAGCC -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation