Incidental Mutation 'R6402:Slc9a1'
| ID |
516193 |
| 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 |
044419-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133097962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 36
(H36Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
| AlphaFold |
Q61165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030669
AA Change: H36Q
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: H36Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
A |
9: 103,976,144 (GRCm39) |
I268F |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,563,803 (GRCm39) |
V514A |
possibly damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,524 (GRCm39) |
G480W |
probably damaging |
Het |
| Cbarp |
A |
G |
10: 79,970,956 (GRCm39) |
I247T |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,108 (GRCm39) |
Y172H |
probably damaging |
Het |
| Creld2 |
C |
T |
15: 88,707,344 (GRCm39) |
R221C |
probably damaging |
Het |
| Dmac1 |
C |
T |
4: 75,196,217 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
A |
G |
14: 78,177,318 (GRCm39) |
E166G |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,960,407 (GRCm39) |
F64S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,801,352 (GRCm39) |
H538L |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,111 (GRCm39) |
|
probably null |
Het |
| Mettl8 |
A |
T |
2: 70,796,805 (GRCm39) |
Y98* |
probably null |
Het |
| Naip6 |
G |
T |
13: 100,437,226 (GRCm39) |
H432Q |
probably benign |
Het |
| Sirt4 |
C |
T |
5: 115,618,370 (GRCm39) |
V235M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,283,389 (GRCm39) |
H827R |
probably benign |
Het |
| Slc23a3 |
T |
C |
1: 75,105,200 (GRCm39) |
N456S |
probably damaging |
Het |
| Spink14 |
A |
G |
18: 44,164,041 (GRCm39) |
T70A |
probably damaging |
Het |
| Stambpl1 |
C |
A |
19: 34,211,539 (GRCm39) |
P200Q |
probably benign |
Het |
| Trio |
T |
A |
15: 27,902,997 (GRCm39) |
I155L |
probably benign |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,444 (GRCm39) |
V120A |
probably benign |
Het |
| Wac |
A |
G |
18: 7,901,585 (GRCm39) |
S77G |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,886,987 (GRCm39) |
T675I |
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 |
|
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 |
|
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'- AGAGATTGCCCCAGTCTCAC -3'
(R):5'- AGGGTAGTCAATGTCCAGGAC -3'
Sequencing Primer
(F):5'- GCAGGACTCCTTGCTACCTATG -3'
(R):5'- AGGACTGGGAAGGCCTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation