Incidental Mutation 'R8398:Slc9a1'
| ID |
647705 |
| 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 |
067761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133146814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 516
(Q516L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
| AlphaFold |
Q61165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030669
AA Change: Q516L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: Q516L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,330,797 (GRCm39) |
D6086G |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,641,394 (GRCm39) |
S105P |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,252 (GRCm39) |
Y256N |
probably damaging |
Het |
| Asap3 |
G |
A |
4: 135,961,704 (GRCm39) |
M271I |
probably benign |
Het |
| Bbof1 |
T |
C |
12: 84,475,188 (GRCm39) |
L459P |
probably damaging |
Het |
| Ccl21a |
T |
C |
4: 42,773,412 (GRCm39) |
T109A |
probably benign |
Het |
| Cnot6 |
C |
T |
11: 49,593,445 (GRCm39) |
R12Q |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,621 (GRCm39) |
Q925* |
probably null |
Het |
| Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,899,128 (GRCm39) |
L462Q |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,099,577 (GRCm39) |
R206C |
probably damaging |
Het |
| Gjd4 |
C |
T |
18: 9,280,326 (GRCm39) |
V251M |
possibly damaging |
Het |
| Glud1 |
A |
G |
14: 34,033,228 (GRCm39) |
D125G |
probably benign |
Het |
| Gm10428 |
T |
C |
11: 62,644,173 (GRCm39) |
I83T |
unknown |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm3045 |
A |
G |
13: 56,577,280 (GRCm39) |
T143A |
possibly damaging |
Het |
| Heatr6 |
A |
C |
11: 83,672,164 (GRCm39) |
E1057D |
probably benign |
Het |
| Hoxa9 |
T |
C |
6: 52,201,403 (GRCm39) |
T213A |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,720 (GRCm39) |
D242V |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,838,827 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
C |
T |
2: 40,591,819 (GRCm39) |
C3827Y |
|
Het |
| Mast2 |
A |
T |
4: 116,165,946 (GRCm39) |
S1261T |
probably damaging |
Het |
| Mex3b |
T |
A |
7: 82,518,842 (GRCm39) |
F386I |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,095,242 (GRCm39) |
M465K |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,265,695 (GRCm39) |
F470L |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,883 (GRCm39) |
N400S |
probably benign |
Het |
| Ndnf |
T |
C |
6: 65,681,362 (GRCm39) |
V547A |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,783,554 (GRCm39) |
D607E |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,542,175 (GRCm39) |
V25A |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,146,116 (GRCm39) |
G736R |
possibly damaging |
Het |
| Pcgf3 |
A |
G |
5: 108,647,509 (GRCm39) |
N205S |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Psg27 |
T |
C |
7: 18,295,837 (GRCm39) |
T203A |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,939 (GRCm39) |
T889A |
probably benign |
Het |
| Sars1 |
C |
T |
3: 108,335,489 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
G |
T |
11: 96,921,730 (GRCm39) |
V67L |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,257,982 (GRCm39) |
D380G |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,933,184 (GRCm39) |
Y627H |
probably damaging |
Het |
| Spon2 |
G |
T |
5: 33,374,154 (GRCm39) |
H76Q |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sppl2b |
CTGTCACA |
C |
10: 80,701,902 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,523,783 (GRCm39) |
Y550C |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,222,408 (GRCm39) |
D558G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,074,923 (GRCm39) |
E1134G |
probably damaging |
Het |
| Thbd |
C |
T |
2: 148,248,600 (GRCm39) |
V423I |
probably benign |
Het |
| V1rd19 |
C |
A |
7: 23,703,374 (GRCm39) |
S280* |
probably null |
Het |
| Zfp947 |
A |
T |
17: 22,365,102 (GRCm39) |
C191S |
probably benign |
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 |
|
|
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 |
|
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'- CCTATCAGGAAGAAGTGGCC -3'
(R):5'- CTTCAGCTAGAGCCTGGAAG -3'
Sequencing Primer
(F):5'- CTATCAGGAAGAAGTGGCCTTTAAAG -3'
(R):5'- CTGGAAGGGGGCCCAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation