Incidental Mutation 'R0680:Slc9a5'
ID |
61753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc9a5
|
Ensembl Gene |
ENSMUSG00000014786 |
Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 5 |
Synonyms |
LOC277973 |
MMRRC Submission |
038865-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R0680 (G1)
|
Quality Score |
193 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106075475-106096513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106082539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 268
(L268Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073149]
|
AlphaFold |
B2RXE2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000073149
AA Change: L268Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072893 Gene: ENSMUSG00000014786 AA Change: L268Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
Pfam:Na_H_Exchanger
|
53 |
458 |
9.8e-89 |
PFAM |
low complexity region
|
705 |
723 |
N/A |
INTRINSIC |
low complexity region
|
807 |
823 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212772
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4a |
A |
T |
3: 144,675,128 (GRCm39) |
F167L |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,706,703 (GRCm39) |
M2137V |
unknown |
Het |
Dennd2a |
A |
T |
6: 39,459,996 (GRCm39) |
L703Q |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,821,703 (GRCm39) |
I5812N |
possibly damaging |
Het |
Gen1 |
T |
A |
12: 11,291,870 (GRCm39) |
S640C |
probably benign |
Het |
Il9 |
T |
C |
13: 56,629,693 (GRCm39) |
T61A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,425,530 (GRCm39) |
L700P |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,824,926 (GRCm39) |
V1514I |
probably benign |
Het |
Med1 |
A |
T |
11: 98,070,992 (GRCm39) |
|
probably null |
Het |
Or14a257 |
A |
T |
7: 86,138,545 (GRCm39) |
F71L |
probably benign |
Het |
Or4c11c |
A |
T |
2: 88,662,124 (GRCm39) |
Y221F |
probably benign |
Het |
Or52n2 |
A |
G |
7: 104,542,211 (GRCm39) |
I208T |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,626,687 (GRCm39) |
Y257F |
probably damaging |
Het |
Pcdhb18 |
G |
C |
18: 37,623,347 (GRCm39) |
A226P |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,720,360 (GRCm39) |
N338Y |
possibly damaging |
Het |
Rc3h2 |
A |
C |
2: 37,289,847 (GRCm39) |
I360R |
probably damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,501 (GRCm39) |
Y509H |
probably damaging |
Het |
Shisa7 |
T |
A |
7: 4,834,722 (GRCm39) |
D279V |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,043,967 (GRCm39) |
D1449G |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,686,846 (GRCm39) |
L71P |
probably damaging |
Het |
St7 |
T |
C |
6: 17,942,732 (GRCm39) |
S563P |
probably damaging |
Het |
Stx1b |
A |
G |
7: 127,406,895 (GRCm39) |
V240A |
possibly damaging |
Het |
Sugt1 |
A |
G |
14: 79,847,751 (GRCm39) |
I200M |
possibly damaging |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
Ube4a |
T |
A |
9: 44,859,358 (GRCm39) |
Q380L |
probably damaging |
Het |
Ugt1a2 |
A |
G |
1: 88,128,933 (GRCm39) |
Y192C |
probably damaging |
Het |
Ulbp3 |
T |
A |
10: 3,075,133 (GRCm39) |
|
noncoding transcript |
Het |
Unc93b1 |
G |
A |
19: 3,997,093 (GRCm39) |
V505I |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,965,884 (GRCm39) |
S576P |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,827,941 (GRCm39) |
H2208Q |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,357,497 (GRCm39) |
S1133C |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,316,174 (GRCm39) |
D282G |
possibly damaging |
Het |
Zswim9 |
A |
C |
7: 12,994,248 (GRCm39) |
V636G |
probably benign |
Het |
|
Other mutations in Slc9a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02105:Slc9a5
|
APN |
8 |
106,076,075 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02339:Slc9a5
|
APN |
8 |
106,085,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03220:Slc9a5
|
APN |
8 |
106,094,652 (GRCm39) |
missense |
probably benign |
0.09 |
stein
|
UTSW |
8 |
106,091,316 (GRCm39) |
missense |
probably benign |
0.00 |
P0026:Slc9a5
|
UTSW |
8 |
106,081,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R0990:Slc9a5
|
UTSW |
8 |
106,086,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Slc9a5
|
UTSW |
8 |
106,081,785 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1625:Slc9a5
|
UTSW |
8 |
106,094,755 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1737:Slc9a5
|
UTSW |
8 |
106,094,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R4169:Slc9a5
|
UTSW |
8 |
106,084,032 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4209:Slc9a5
|
UTSW |
8 |
106,085,103 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4210:Slc9a5
|
UTSW |
8 |
106,085,103 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4211:Slc9a5
|
UTSW |
8 |
106,085,103 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4345:Slc9a5
|
UTSW |
8 |
106,076,087 (GRCm39) |
missense |
probably benign |
|
R4665:Slc9a5
|
UTSW |
8 |
106,094,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Slc9a5
|
UTSW |
8 |
106,082,490 (GRCm39) |
missense |
probably benign |
0.03 |
R5553:Slc9a5
|
UTSW |
8 |
106,083,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Slc9a5
|
UTSW |
8 |
106,091,323 (GRCm39) |
missense |
probably benign |
0.12 |
R5631:Slc9a5
|
UTSW |
8 |
106,076,141 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5645:Slc9a5
|
UTSW |
8 |
106,083,645 (GRCm39) |
missense |
probably benign |
0.00 |
R5856:Slc9a5
|
UTSW |
8 |
106,083,797 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5907:Slc9a5
|
UTSW |
8 |
106,083,807 (GRCm39) |
critical splice donor site |
probably null |
|
R6481:Slc9a5
|
UTSW |
8 |
106,085,025 (GRCm39) |
nonsense |
probably null |
|
R6799:Slc9a5
|
UTSW |
8 |
106,090,600 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6834:Slc9a5
|
UTSW |
8 |
106,091,316 (GRCm39) |
missense |
probably benign |
0.00 |
R6938:Slc9a5
|
UTSW |
8 |
106,080,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Slc9a5
|
UTSW |
8 |
106,076,078 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7095:Slc9a5
|
UTSW |
8 |
106,084,268 (GRCm39) |
missense |
probably benign |
0.16 |
R7152:Slc9a5
|
UTSW |
8 |
106,095,025 (GRCm39) |
missense |
probably benign |
0.03 |
R7303:Slc9a5
|
UTSW |
8 |
106,083,345 (GRCm39) |
missense |
probably damaging |
0.99 |
R7508:Slc9a5
|
UTSW |
8 |
106,089,885 (GRCm39) |
splice site |
probably null |
|
R7583:Slc9a5
|
UTSW |
8 |
106,089,904 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7895:Slc9a5
|
UTSW |
8 |
106,089,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8077:Slc9a5
|
UTSW |
8 |
106,086,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R8217:Slc9a5
|
UTSW |
8 |
106,089,956 (GRCm39) |
missense |
probably damaging |
0.97 |
R8751:Slc9a5
|
UTSW |
8 |
106,085,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R9170:Slc9a5
|
UTSW |
8 |
106,080,139 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Slc9a5
|
UTSW |
8 |
106,081,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTTTGGGACAGAGGAGGCTATTC -3'
(R):5'- CCAAAGACCTTGCGTTTGGTCAC -3'
Sequencing Primer
(F):5'- GGAGGCTATTCCGATGTCTCATTC -3'
(R):5'- GGTCACGTAAAGTATTGACTCTCC -3'
|
Posted On |
2013-07-30 |