Incidental Mutation 'IGL02105:Slc9a5'
ID |
279957 |
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 # |
IGL02105
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106075475-106096513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106076075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 23
(P23S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000073149]
|
AlphaFold |
B2RXE2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014922
|
SMART Domains |
Protein: ENSMUSP00000014922 Gene: ENSMUSG00000014778
Domain | Start | End | E-Value | Type |
PDB:3DAD|B
|
1 |
339 |
N/A |
PDB |
Blast:Drf_GBD
|
85 |
216 |
1e-48 |
BLAST |
SCOP:d1ee4a_
|
120 |
240 |
4e-4 |
SMART |
Blast:FH2
|
231 |
318 |
6e-38 |
BLAST |
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
Blast:FH2
|
386 |
483 |
2e-10 |
BLAST |
low complexity region
|
514 |
532 |
N/A |
INTRINSIC |
low complexity region
|
573 |
643 |
N/A |
INTRINSIC |
FH2
|
648 |
1100 |
3.16e-121 |
SMART |
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
Blast:FH2
|
1135 |
1179 |
1e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073149
AA Change: P23S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000072893 Gene: ENSMUSG00000014786 AA Change: P23S
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: ENSMUST00000132777
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
G |
T |
3: 95,587,374 (GRCm39) |
P734H |
probably damaging |
Het |
Arfip2 |
A |
T |
7: 105,288,590 (GRCm39) |
I14N |
probably damaging |
Het |
Asap3 |
G |
T |
4: 135,955,785 (GRCm39) |
|
probably null |
Het |
Atg2a |
T |
A |
19: 6,300,433 (GRCm39) |
|
probably benign |
Het |
Bbs12 |
T |
C |
3: 37,374,296 (GRCm39) |
L248P |
probably damaging |
Het |
Brd3 |
A |
T |
2: 27,349,788 (GRCm39) |
I255N |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,879,921 (GRCm39) |
|
probably null |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,659,116 (GRCm39) |
D25E |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,199,651 (GRCm39) |
K1325R |
probably damaging |
Het |
Dnmt1 |
T |
A |
9: 20,819,178 (GRCm39) |
E1486V |
unknown |
Het |
Dock2 |
T |
C |
11: 34,605,352 (GRCm39) |
N256D |
probably damaging |
Het |
Dpp3 |
G |
A |
19: 4,966,799 (GRCm39) |
S408L |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,075,892 (GRCm39) |
G2992R |
probably damaging |
Het |
Eef1a1 |
T |
C |
9: 78,387,833 (GRCm39) |
D35G |
probably benign |
Het |
Fntb |
A |
G |
12: 76,909,263 (GRCm39) |
K84E |
probably benign |
Het |
Gfi1 |
A |
G |
5: 107,871,588 (GRCm39) |
|
probably null |
Het |
Glb1l3 |
T |
A |
9: 26,729,823 (GRCm39) |
I516F |
probably damaging |
Het |
Hltf |
A |
G |
3: 20,146,921 (GRCm39) |
N560S |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,099,041 (GRCm39) |
N1443S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,289 (GRCm39) |
I1330K |
probably benign |
Het |
Krt20 |
C |
T |
11: 99,328,827 (GRCm39) |
V33M |
probably benign |
Het |
Lao1 |
A |
G |
4: 118,825,640 (GRCm39) |
T487A |
probably damaging |
Het |
Larp4 |
A |
G |
15: 99,883,952 (GRCm39) |
E63G |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,380,448 (GRCm39) |
V3901A |
probably damaging |
Het |
Lrrc17 |
A |
G |
5: 21,775,255 (GRCm39) |
I272M |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,132,674 (GRCm39) |
Q1865L |
unknown |
Het |
Mtg1 |
T |
C |
7: 139,730,119 (GRCm39) |
L305P |
probably damaging |
Het |
Mylk4 |
T |
A |
13: 32,904,545 (GRCm39) |
E427D |
probably benign |
Het |
Myom1 |
G |
T |
17: 71,354,711 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,292,660 (GRCm39) |
E1104G |
probably damaging |
Het |
Obox5 |
A |
G |
7: 15,492,500 (GRCm39) |
M152V |
probably benign |
Het |
Olfm2 |
C |
T |
9: 20,583,476 (GRCm39) |
V203M |
probably damaging |
Het |
Or2l13 |
T |
G |
16: 19,306,011 (GRCm39) |
L141R |
probably benign |
Het |
Or8b12c |
A |
T |
9: 37,715,891 (GRCm39) |
H228L |
possibly damaging |
Het |
Pf4 |
A |
G |
5: 90,921,114 (GRCm39) |
S105G |
probably damaging |
Het |
Phlpp2 |
T |
A |
8: 110,631,040 (GRCm39) |
I228N |
probably damaging |
Het |
Sall1 |
T |
G |
8: 89,759,196 (GRCm39) |
S303R |
probably damaging |
Het |
Setd5 |
A |
G |
6: 113,094,541 (GRCm39) |
E486G |
probably damaging |
Het |
Tbc1d9b |
T |
A |
11: 50,040,653 (GRCm39) |
I390N |
probably damaging |
Het |
Trp53 |
T |
C |
11: 69,479,329 (GRCm39) |
V169A |
probably damaging |
Het |
Usp4 |
A |
G |
9: 108,262,131 (GRCm39) |
D791G |
probably damaging |
Het |
Vmn1r76 |
A |
G |
7: 11,664,417 (GRCm39) |
S266P |
possibly damaging |
Het |
Vmn2r27 |
A |
G |
6: 124,174,308 (GRCm39) |
|
probably benign |
Het |
Xirp1 |
C |
T |
9: 119,846,063 (GRCm39) |
G940E |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,580,845 (GRCm39) |
C89* |
probably null |
Het |
|
Other mutations in Slc9a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2015-04-16 |