Incidental Mutation 'R4345:Slc9a5'
| ID |
324299 |
| 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 |
041666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R4345 (G1)
|
| Quality Score |
130 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106075475-106096513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106076087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| 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 benign
Transcript: ENSMUST00000073149
AA Change: S27P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: S27P
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
| Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
| Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
| Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
| Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
| Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
| Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- TAACTGCTAGGATCCTGGGC -3'
(R):5'- AAATCTGGAGACCTAGGGGC -3'
Sequencing Primer
(F):5'- ATCGGAGCTCGGATTGGG -3'
(R):5'- AGACCTAGGGGCTTGGGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation