Incidental Mutation 'R5631:Slc9a5'
| ID |
439862 |
| 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 |
043282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R5631 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106075475-106096513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106076141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 45
(H45Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000073149
AA Change: H45Y
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: H45Y
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
A |
11: 72,067,590 (GRCm39) |
V567L |
possibly damaging |
Het |
| Abraxas1 |
T |
G |
5: 100,965,840 (GRCm39) |
Y68S |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,160 (GRCm39) |
Q543* |
probably null |
Het |
| Anapc1 |
T |
C |
2: 128,499,137 (GRCm39) |
Y845C |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,173,051 (GRCm39) |
*98W |
probably null |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,204,577 (GRCm39) |
T275S |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,832,898 (GRCm39) |
S1038G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,160,617 (GRCm39) |
V1397A |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,629,355 (GRCm39) |
T2203A |
probably damaging |
Het |
| Gm57858 |
G |
C |
3: 36,101,026 (GRCm39) |
Q49E |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,310 (GRCm39) |
I209F |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,244,808 (GRCm39) |
C126S |
probably damaging |
Het |
| Ipo4 |
A |
G |
14: 55,869,526 (GRCm39) |
V378A |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,870,838 (GRCm39) |
V265I |
probably benign |
Het |
| Kcnv1 |
T |
A |
15: 44,972,753 (GRCm39) |
T377S |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,731,985 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,900,301 (GRCm39) |
D67G |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,646,456 (GRCm39) |
M535L |
probably benign |
Het |
| Mfhas1 |
G |
A |
8: 36,055,573 (GRCm39) |
R16Q |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,333,383 (GRCm39) |
K1355* |
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,862,283 (GRCm39) |
I282V |
probably benign |
Het |
| Mvb12b |
G |
T |
2: 33,717,715 (GRCm39) |
P142Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,855,041 (GRCm39) |
D27G |
possibly damaging |
Het |
| Nrap |
T |
G |
19: 56,342,553 (GRCm39) |
E780A |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,441 (GRCm39) |
I228V |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,475,952 (GRCm39) |
S172T |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,704,638 (GRCm39) |
M433V |
probably benign |
Het |
| Polr3h |
T |
A |
15: 81,810,113 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
C |
6: 146,898,358 (GRCm39) |
Y105H |
probably damaging |
Het |
| Rplp2 |
A |
C |
7: 141,031,172 (GRCm39) |
|
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,345 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
A |
T |
8: 95,355,706 (GRCm39) |
M1L |
possibly damaging |
Het |
| Runx1 |
C |
A |
16: 92,492,451 (GRCm39) |
R64L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,937,645 (GRCm39) |
I890T |
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,649,098 (GRCm39) |
E52G |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,294,139 (GRCm39) |
I319N |
probably damaging |
Het |
| Stt3b |
G |
A |
9: 115,083,913 (GRCm39) |
T421I |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,319,825 (GRCm39) |
L47P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,882 (GRCm38) |
Y850H |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,897,946 (GRCm39) |
E158V |
probably damaging |
Het |
| Trp53i13 |
C |
A |
11: 77,400,419 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,971 (GRCm39) |
V249A |
probably damaging |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,300 (GRCm39) |
M1I |
probably null |
Het |
| Yars1 |
T |
G |
4: 129,103,542 (GRCm39) |
L297R |
probably damaging |
Het |
| Yju2b |
G |
T |
8: 84,990,510 (GRCm39) |
Q41K |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,578,703 (GRCm39) |
L176P |
probably 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 |
|
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 |
|
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'- CAAGACGCAAATCTGGAGACCTAG -3'
Sequencing Primer
(F):5'- ATCGGAGCTCGGATTGGG -3'
(R):5'- CAAATCTGGAGACCTAGGGGCTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation