Incidental Mutation 'R4223:Slc9a4'
| ID |
319428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a4
|
| Ensembl Gene |
ENSMUSG00000026065 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 4 |
| Synonyms |
NHE4, D730009J23Rik |
| MMRRC Submission |
041043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4223 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40619241-40669885 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40658286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 603
(V603A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027233]
|
| AlphaFold |
Q8BUE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027233
AA Change: V603A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: V603A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
73 |
477 |
1.6e-90 |
PFAM |
|
PDB:2E30|B
|
481 |
516 |
9e-8 |
PDB |
|
Pfam:NEXCaM_BD
|
566 |
675 |
8.1e-42 |
PFAM |
|
| Meta Mutation Damage Score |
0.0956 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (65/66) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display normal growth and survival but have gastric secretions with reduced acidity, mild gastric necrosis and apoptosis, and abnormal gastric mucosa with reduced numbers of parietal and chief cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,930,286 (GRCm39) |
Y43H |
probably damaging |
Het |
| Aamp |
A |
T |
1: 74,320,285 (GRCm39) |
L348Q |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,722 (GRCm39) |
L226M |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,774,511 (GRCm39) |
S396P |
probably damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,355 (GRCm39) |
D48G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc116 |
A |
G |
16: 16,964,809 (GRCm39) |
|
probably benign |
Het |
| Cmtm5 |
T |
A |
14: 55,175,376 (GRCm39) |
C51S |
probably damaging |
Het |
| Cyb5rl |
T |
C |
4: 106,938,185 (GRCm39) |
V214A |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,077 (GRCm39) |
I350N |
probably damaging |
Het |
| Efcab6 |
C |
A |
15: 83,751,309 (GRCm39) |
D1498Y |
probably damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
G |
A |
16: 63,403,902 (GRCm39) |
S733L |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
| Galnt1 |
T |
C |
18: 24,371,413 (GRCm39) |
F4L |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,042 (GRCm39) |
S218P |
probably benign |
Het |
| Gm15854 |
A |
T |
6: 129,949,426 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,361,236 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
C |
7: 139,138,821 (GRCm39) |
V263A |
possibly damaging |
Het |
| Itgb1 |
T |
G |
8: 129,440,624 (GRCm39) |
I255S |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,482,257 (GRCm39) |
L1547P |
possibly damaging |
Het |
| Kifc3 |
C |
A |
8: 95,836,610 (GRCm39) |
L72F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,460 (GRCm39) |
A188V |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,854,884 (GRCm39) |
S9T |
probably benign |
Het |
| Mfsd14b |
C |
T |
13: 65,214,422 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,489 (GRCm39) |
Y120F |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,260,025 (GRCm39) |
K61E |
probably damaging |
Het |
| Pak2 |
G |
T |
16: 31,871,028 (GRCm39) |
N51K |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,603,389 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Phf1 |
C |
T |
17: 27,156,474 (GRCm39) |
R539* |
probably null |
Het |
| Plch1 |
G |
A |
3: 63,609,321 (GRCm39) |
T48I |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,533,036 (GRCm39) |
S312P |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,872,126 (GRCm39) |
F69L |
possibly damaging |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rfc3 |
C |
A |
5: 151,574,637 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
G |
4: 132,504,055 (GRCm39) |
I69S |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,656,856 (GRCm39) |
V337I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,708 (GRCm39) |
L1709P |
probably damaging |
Het |
| Sh2b2 |
G |
A |
5: 136,247,907 (GRCm39) |
P548L |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,043,328 (GRCm39) |
S591T |
probably damaging |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Slc38a9 |
G |
A |
13: 112,850,782 (GRCm39) |
|
probably null |
Het |
| Snx19 |
T |
G |
9: 30,339,744 (GRCm39) |
V294G |
possibly damaging |
Het |
| Sp140l2 |
T |
C |
1: 85,090,278 (GRCm39) |
D83G |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Strn3 |
C |
T |
12: 51,674,638 (GRCm39) |
R382Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,710,044 (GRCm39) |
V98A |
probably benign |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,148 (GRCm39) |
M183L |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,346,837 (GRCm39) |
E3026V |
possibly damaging |
Het |
|
| Other mutations in Slc9a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Slc9a4
|
APN |
1 |
40,668,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01802:Slc9a4
|
APN |
1 |
40,646,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01909:Slc9a4
|
APN |
1 |
40,651,451 (GRCm39) |
splice site |
probably benign |
|
|
IGL02137:Slc9a4
|
APN |
1 |
40,640,059 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02399:Slc9a4
|
APN |
1 |
40,639,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02685:Slc9a4
|
APN |
1 |
40,668,742 (GRCm39) |
missense |
probably benign |
|
|
IGL02874:Slc9a4
|
APN |
1 |
40,623,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02892:Slc9a4
|
APN |
1 |
40,623,204 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03028:Slc9a4
|
APN |
1 |
40,649,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03083:Slc9a4
|
APN |
1 |
40,668,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03124:Slc9a4
|
APN |
1 |
40,619,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03144:Slc9a4
|
APN |
1 |
40,651,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slc9a4
|
APN |
1 |
40,619,928 (GRCm39) |
missense |
probably null |
0.99 |
|
R0601:Slc9a4
|
UTSW |
1 |
40,642,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Slc9a4
|
UTSW |
1 |
40,623,490 (GRCm39) |
splice site |
probably benign |
|
|
R1583:Slc9a4
|
UTSW |
1 |
40,640,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1752:Slc9a4
|
UTSW |
1 |
40,668,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1776:Slc9a4
|
UTSW |
1 |
40,668,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Slc9a4
|
UTSW |
1 |
40,646,901 (GRCm39) |
splice site |
probably null |
|
|
R1786:Slc9a4
|
UTSW |
1 |
40,646,901 (GRCm39) |
splice site |
probably null |
|
|
R2131:Slc9a4
|
UTSW |
1 |
40,646,901 (GRCm39) |
splice site |
probably null |
|
|
R2132:Slc9a4
|
UTSW |
1 |
40,646,901 (GRCm39) |
splice site |
probably null |
|
|
R2133:Slc9a4
|
UTSW |
1 |
40,646,901 (GRCm39) |
splice site |
probably null |
|
|
R3785:Slc9a4
|
UTSW |
1 |
40,623,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Slc9a4
|
UTSW |
1 |
40,619,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4605:Slc9a4
|
UTSW |
1 |
40,640,195 (GRCm39) |
splice site |
probably null |
|
|
R4641:Slc9a4
|
UTSW |
1 |
40,646,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Slc9a4
|
UTSW |
1 |
40,646,954 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5823:Slc9a4
|
UTSW |
1 |
40,658,277 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5877:Slc9a4
|
UTSW |
1 |
40,651,423 (GRCm39) |
missense |
probably benign |
|
|
R6389:Slc9a4
|
UTSW |
1 |
40,619,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6430:Slc9a4
|
UTSW |
1 |
40,640,014 (GRCm39) |
nonsense |
probably null |
|
|
R6603:Slc9a4
|
UTSW |
1 |
40,662,664 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6950:Slc9a4
|
UTSW |
1 |
40,642,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Slc9a4
|
UTSW |
1 |
40,662,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Slc9a4
|
UTSW |
1 |
40,619,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7230:Slc9a4
|
UTSW |
1 |
40,639,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Slc9a4
|
UTSW |
1 |
40,668,663 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7384:Slc9a4
|
UTSW |
1 |
40,651,411 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7405:Slc9a4
|
UTSW |
1 |
40,640,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Slc9a4
|
UTSW |
1 |
40,640,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7784:Slc9a4
|
UTSW |
1 |
40,639,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8313:Slc9a4
|
UTSW |
1 |
40,619,520 (GRCm39) |
start gained |
probably benign |
|
|
R8724:Slc9a4
|
UTSW |
1 |
40,623,301 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8871:Slc9a4
|
UTSW |
1 |
40,642,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Slc9a4
|
UTSW |
1 |
40,619,928 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9244:Slc9a4
|
UTSW |
1 |
40,658,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9455:Slc9a4
|
UTSW |
1 |
40,668,612 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0060:Slc9a4
|
UTSW |
1 |
40,658,191 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGAATTTAGGAATTTCTCCAGG -3'
(R):5'- TCCCTTTTAGGACAGGCAGATC -3'
Sequencing Primer
(F):5'- AATTTCTCCAGGGTGGGGCAAG -3'
(R):5'- CCCTTTTAGGACAGGCAGATCTATGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation