Incidental Mutation 'R3785:Slc9a4'
| ID |
272199 |
| 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 |
040752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40619241-40669885 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40623130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 123
(P123Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027233]
|
| AlphaFold |
Q8BUE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027233
AA Change: P123Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: P123Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194262
|
| Meta Mutation Damage Score |
0.1360 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
95% (38/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A2ml1 |
C |
T |
6: 128,521,887 (GRCm39) |
|
probably null |
Het |
| Aak1 |
T |
C |
6: 86,942,560 (GRCm39) |
F701S |
unknown |
Het |
| Arid2 |
T |
A |
15: 96,270,439 (GRCm39) |
D1517E |
possibly damaging |
Het |
| Cyp2r1 |
C |
T |
7: 114,153,931 (GRCm39) |
V88I |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 117,981,337 (GRCm39) |
Q2610K |
probably damaging |
Het |
| Gm5698 |
T |
C |
1: 31,016,560 (GRCm39) |
T164A |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,956 (GRCm39) |
T76A |
probably benign |
Het |
| Htra3 |
A |
T |
5: 35,828,472 (GRCm39) |
L136H |
probably benign |
Het |
| Ifitm10 |
G |
A |
7: 141,882,335 (GRCm39) |
T145I |
possibly damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Kcnd3 |
C |
A |
3: 105,575,541 (GRCm39) |
T555K |
possibly damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 12,930,099 (GRCm39) |
G40C |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,389 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Mypn |
C |
A |
10: 63,028,961 (GRCm39) |
R34L |
probably benign |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,831 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Or9g3 |
G |
A |
2: 85,589,797 (GRCm39) |
P308S |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf5 |
A |
G |
17: 34,820,906 (GRCm39) |
|
probably null |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,264,827 (GRCm39) |
T131S |
probably damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,426,441 (GRCm39) |
|
probably null |
Het |
| Swt1 |
T |
C |
1: 151,255,155 (GRCm39) |
D814G |
probably benign |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Zfp26 |
A |
T |
9: 20,349,098 (GRCm39) |
C489S |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,820,153 (GRCm39) |
T934M |
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 |
|
|
R4223:Slc9a4
|
UTSW |
1 |
40,658,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CTAGATCAATCTGGCTAGACCC -3'
(R):5'- AATAGCAGATTGTGTAGCAGGTTG -3'
Sequencing Primer
(F):5'- AGACCCAGTCCTGTTCATTGG -3'
(R):5'- CCAAAGGCCTTGATCTGACAGATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation