Incidental Mutation 'IGL03220:Slc9a5'
ID |
413630 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc9a5
|
Ensembl Gene |
ENSMUSG00000014786 |
Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 5 |
Synonyms |
LOC277973 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
IGL03220
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106075475-106096513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106094652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 748
(C748S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073149]
|
AlphaFold |
B2RXE2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073149
AA Change: C748S
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000072893 Gene: ENSMUSG00000014786 AA Change: C748S
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
T |
A |
1: 179,615,767 (GRCm39) |
E368D |
probably benign |
Het |
Arid2 |
A |
T |
15: 96,259,653 (GRCm39) |
H271L |
probably damaging |
Het |
Bsnd |
G |
T |
4: 106,343,962 (GRCm39) |
Q115K |
possibly damaging |
Het |
Ceacam5 |
T |
A |
7: 17,494,653 (GRCm39) |
I887N |
probably damaging |
Het |
Clrn2 |
T |
C |
5: 45,621,070 (GRCm39) |
F155L |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,606,765 (GRCm39) |
S553P |
probably damaging |
Het |
Crnn |
C |
T |
3: 93,056,674 (GRCm39) |
H487Y |
possibly damaging |
Het |
Ddi2 |
T |
C |
4: 141,435,767 (GRCm39) |
N90S |
probably benign |
Het |
Deup1 |
T |
A |
9: 15,503,707 (GRCm39) |
I285L |
probably benign |
Het |
Dlgap4 |
T |
C |
2: 156,546,546 (GRCm39) |
S405P |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,069,720 (GRCm39) |
F1560L |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,710,251 (GRCm39) |
|
probably null |
Het |
Dst |
C |
A |
1: 34,225,076 (GRCm39) |
Q1161K |
probably damaging |
Het |
Dus1l |
G |
T |
11: 120,683,185 (GRCm39) |
H280N |
probably damaging |
Het |
Gm21985 |
C |
A |
2: 112,187,829 (GRCm39) |
H964N |
possibly damaging |
Het |
Gzmd |
A |
T |
14: 56,367,886 (GRCm39) |
V129E |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,236,633 (GRCm39) |
F392Y |
possibly damaging |
Het |
Kdelr2 |
T |
A |
5: 143,403,870 (GRCm39) |
Y86* |
probably null |
Het |
Kif26b |
T |
G |
1: 178,692,434 (GRCm39) |
C458W |
probably damaging |
Het |
Lhpp |
G |
A |
7: 132,252,020 (GRCm39) |
V220I |
probably benign |
Het |
Nfya |
T |
C |
17: 48,707,521 (GRCm39) |
N7S |
possibly damaging |
Het |
Or5ar1 |
G |
T |
2: 85,671,326 (GRCm39) |
Q270K |
possibly damaging |
Het |
Or5b12b |
C |
T |
19: 12,861,815 (GRCm39) |
T190I |
possibly damaging |
Het |
Or5b24 |
A |
C |
19: 12,912,858 (GRCm39) |
Y252S |
probably damaging |
Het |
Prkg1 |
A |
T |
19: 30,546,637 (GRCm39) |
|
probably benign |
Het |
Prpf6 |
A |
G |
2: 181,274,672 (GRCm39) |
E383G |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,644,882 (GRCm39) |
V1153E |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,759,280 (GRCm39) |
I3330N |
probably damaging |
Het |
Sgk1 |
A |
G |
10: 21,873,290 (GRCm39) |
D252G |
probably null |
Het |
Shcbp1l |
T |
C |
1: 153,308,911 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
G |
A |
4: 59,082,378 (GRCm39) |
Q417* |
probably null |
Het |
Skida1 |
T |
C |
2: 18,052,972 (GRCm39) |
D60G |
probably damaging |
Het |
Smc4 |
A |
T |
3: 68,916,875 (GRCm39) |
Y163F |
possibly damaging |
Het |
Spdya |
T |
C |
17: 71,885,286 (GRCm39) |
S247P |
possibly damaging |
Het |
Sptb |
T |
C |
12: 76,659,684 (GRCm39) |
D1072G |
probably benign |
Het |
St7l |
A |
T |
3: 104,782,139 (GRCm39) |
|
probably benign |
Het |
Trmt1l |
T |
C |
1: 151,316,692 (GRCm39) |
|
probably benign |
Het |
Tspan4 |
A |
G |
7: 141,071,712 (GRCm39) |
Y153C |
probably damaging |
Het |
Ulk4 |
A |
T |
9: 120,974,402 (GRCm39) |
N944K |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,544,097 (GRCm39) |
C407R |
probably damaging |
Het |
Zfp563 |
T |
G |
17: 33,323,661 (GRCm39) |
S85R |
probably benign |
Het |
Zp2 |
A |
C |
7: 119,736,450 (GRCm39) |
L331R |
possibly damaging |
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 |
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 |
R0680:Slc9a5
|
UTSW |
8 |
106,082,539 (GRCm39) |
missense |
probably null |
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 |
|
Posted On |
2016-08-02 |