Incidental Mutation 'R2050:Slc9a1'
ID |
226317 |
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 |
040057-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2050 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
133097022-133151013 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133143645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 377
(H377R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030669]
|
AlphaFold |
Q61165 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030669
AA Change: H377R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000030669 Gene: ENSMUSG00000028854 AA Change: H377R
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
G |
T |
10: 126,916,130 (GRCm39) |
E214* |
probably null |
Het |
Angpt2 |
G |
T |
8: 18,755,673 (GRCm39) |
P265T |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,143,443 (GRCm39) |
|
probably null |
Het |
Arpc1b |
C |
T |
5: 145,062,729 (GRCm39) |
P250S |
probably damaging |
Het |
Atxn10 |
T |
G |
15: 85,249,513 (GRCm39) |
V115G |
probably benign |
Het |
Bace2 |
T |
A |
16: 97,213,336 (GRCm39) |
C100S |
probably damaging |
Het |
Bpifb9b |
T |
C |
2: 154,151,524 (GRCm39) |
S82P |
possibly damaging |
Het |
Cacna1g |
A |
G |
11: 94,300,300 (GRCm39) |
S2157P |
probably damaging |
Het |
Cacnb4 |
T |
A |
2: 52,359,598 (GRCm39) |
I104L |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,643,402 (GRCm39) |
I44T |
possibly damaging |
Het |
Cdh6 |
T |
A |
15: 13,057,587 (GRCm39) |
M245L |
probably benign |
Het |
Celsr1 |
A |
C |
15: 85,914,748 (GRCm39) |
V1075G |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,987,393 (GRCm39) |
F1065L |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Colgalt1 |
T |
C |
8: 72,070,330 (GRCm39) |
|
probably null |
Het |
Ctnnal1 |
A |
T |
4: 56,835,350 (GRCm39) |
V309D |
probably benign |
Het |
D7Ertd443e |
T |
A |
7: 133,868,527 (GRCm39) |
E659D |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,464,696 (GRCm39) |
Y516H |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,580,127 (GRCm39) |
L3099P |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,341,520 (GRCm39) |
E1271G |
probably damaging |
Het |
Grap2 |
A |
G |
15: 80,530,444 (GRCm39) |
H188R |
probably benign |
Het |
Grin2c |
T |
C |
11: 115,148,245 (GRCm39) |
D344G |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,225,448 (GRCm39) |
M119T |
probably damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,249,992 (GRCm39) |
I368V |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,870 (GRCm39) |
N249Y |
possibly damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,432 (GRCm39) |
Y36N |
probably damaging |
Het |
Lrp12 |
G |
A |
15: 39,735,985 (GRCm39) |
S649L |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,453,473 (GRCm39) |
S788P |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,887,917 (GRCm39) |
D1164G |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,488,921 (GRCm39) |
|
probably null |
Het |
Myo5a |
G |
A |
9: 75,054,156 (GRCm39) |
E355K |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,743,194 (GRCm39) |
V85E |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,332,123 (GRCm39) |
|
probably null |
Het |
Nlrx1 |
A |
T |
9: 44,174,077 (GRCm39) |
W375R |
probably damaging |
Het |
Pik3c2a |
A |
G |
7: 116,016,686 (GRCm39) |
|
probably null |
Het |
Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
Plk4 |
T |
A |
3: 40,764,815 (GRCm39) |
M603K |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,524,748 (GRCm39) |
V646E |
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,353,349 (GRCm39) |
S510P |
probably benign |
Het |
Snrnp70 |
A |
C |
7: 45,036,724 (GRCm39) |
Y61* |
probably null |
Het |
Spatc1l |
T |
C |
10: 76,399,892 (GRCm39) |
L138P |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,140,825 (GRCm39) |
|
probably null |
Het |
Sptan1 |
T |
A |
2: 29,892,250 (GRCm39) |
S1055T |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,083 (GRCm39) |
M209L |
probably damaging |
Het |
Tdrd12 |
C |
T |
7: 35,228,672 (GRCm39) |
V17I |
probably damaging |
Het |
Tmem129 |
C |
A |
5: 33,815,126 (GRCm39) |
A16S |
probably benign |
Het |
Tmtc1 |
T |
C |
6: 148,164,381 (GRCm39) |
E584G |
probably damaging |
Het |
Trank1 |
C |
A |
9: 111,193,856 (GRCm39) |
H627N |
probably damaging |
Het |
Trio |
T |
C |
15: 27,852,031 (GRCm39) |
D820G |
possibly damaging |
Het |
Trpt1 |
T |
A |
19: 6,975,452 (GRCm39) |
N98K |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,429,069 (GRCm39) |
F857I |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,475,021 (GRCm39) |
V669A |
probably damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,273,681 (GRCm39) |
I832V |
probably damaging |
Het |
Zbtb20 |
T |
A |
16: 43,429,975 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
A |
C |
4: 108,575,800 (GRCm39) |
M427R |
probably benign |
Het |
Zfyve9 |
A |
T |
4: 108,576,500 (GRCm39) |
F194I |
possibly 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 |
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'- CTGAATTTGCTGGCCCTGTG -3'
(R):5'- CTCCCTACAGTCACGTGTATAC -3'
Sequencing Primer
(F):5'- AATTTGCTGGCCCTGTGTACTTG -3'
(R):5'- ACAGTCACGTGTATACTGTTTCTC -3'
|
Posted On |
2014-09-17 |