Incidental Mutation 'R6933:Slc22a23'
ID |
540177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a23
|
Ensembl Gene |
ENSMUSG00000038267 |
Gene Name |
solute carrier family 22, member 23 |
Synonyms |
3110004L20Rik |
MMRRC Submission |
045048-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R6933 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34489163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 241
(I241V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
AlphaFold |
Q3UHH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040336
AA Change: I241V
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000042742 Gene: ENSMUSG00000038267 AA Change: I241V
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
187 |
633 |
5e-26 |
PFAM |
Pfam:MFS_1
|
224 |
518 |
2.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145038
|
SMART Domains |
Protein: ENSMUSP00000122376 Gene: ENSMUSG00000038267
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000122283 Gene: ENSMUSG00000038267 AA Change: I125V
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
71 |
510 |
1.4e-27 |
PFAM |
Pfam:MFS_1
|
109 |
402 |
1.5e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.1029 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
Validation Efficiency |
93% (41/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
Other mutations in Slc22a23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Slc22a23
|
APN |
13 |
34,489,228 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01762:Slc22a23
|
APN |
13 |
34,387,984 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02496:Slc22a23
|
APN |
13 |
34,528,468 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02516:Slc22a23
|
APN |
13 |
34,387,938 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02831:Slc22a23
|
APN |
13 |
34,483,052 (GRCm39) |
missense |
possibly damaging |
0.81 |
Foreshadowed
|
UTSW |
13 |
34,379,462 (GRCm39) |
missense |
probably damaging |
0.98 |
foretold
|
UTSW |
13 |
34,489,163 (GRCm39) |
missense |
probably benign |
0.08 |
BB009:Slc22a23
|
UTSW |
13 |
34,366,960 (GRCm39) |
missense |
probably damaging |
0.99 |
BB019:Slc22a23
|
UTSW |
13 |
34,366,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R0234:Slc22a23
|
UTSW |
13 |
34,367,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Slc22a23
|
UTSW |
13 |
34,367,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Slc22a23
|
UTSW |
13 |
34,367,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Slc22a23
|
UTSW |
13 |
34,528,366 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0558:Slc22a23
|
UTSW |
13 |
34,528,366 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0636:Slc22a23
|
UTSW |
13 |
34,483,076 (GRCm39) |
missense |
probably benign |
0.01 |
R0676:Slc22a23
|
UTSW |
13 |
34,379,462 (GRCm39) |
missense |
probably damaging |
0.98 |
R0739:Slc22a23
|
UTSW |
13 |
34,528,366 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0990:Slc22a23
|
UTSW |
13 |
34,379,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1515:Slc22a23
|
UTSW |
13 |
34,387,947 (GRCm39) |
missense |
probably benign |
0.33 |
R2128:Slc22a23
|
UTSW |
13 |
34,387,953 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2147:Slc22a23
|
UTSW |
13 |
34,366,990 (GRCm39) |
missense |
probably benign |
0.00 |
R3113:Slc22a23
|
UTSW |
13 |
34,367,058 (GRCm39) |
missense |
probably damaging |
0.98 |
R3780:Slc22a23
|
UTSW |
13 |
34,528,323 (GRCm39) |
missense |
probably benign |
0.14 |
R3945:Slc22a23
|
UTSW |
13 |
34,367,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R3946:Slc22a23
|
UTSW |
13 |
34,367,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R4056:Slc22a23
|
UTSW |
13 |
34,482,987 (GRCm39) |
nonsense |
probably null |
|
R4095:Slc22a23
|
UTSW |
13 |
34,489,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4854:Slc22a23
|
UTSW |
13 |
34,387,924 (GRCm39) |
missense |
probably benign |
|
R5594:Slc22a23
|
UTSW |
13 |
34,489,240 (GRCm39) |
missense |
probably damaging |
0.99 |
R5611:Slc22a23
|
UTSW |
13 |
34,489,222 (GRCm39) |
missense |
probably benign |
0.00 |
R6167:Slc22a23
|
UTSW |
13 |
34,528,542 (GRCm39) |
missense |
probably damaging |
0.97 |
R6927:Slc22a23
|
UTSW |
13 |
34,528,362 (GRCm39) |
missense |
probably benign |
0.07 |
R6960:Slc22a23
|
UTSW |
13 |
34,528,140 (GRCm39) |
critical splice donor site |
probably null |
|
R7291:Slc22a23
|
UTSW |
13 |
34,381,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R7313:Slc22a23
|
UTSW |
13 |
34,367,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R7932:Slc22a23
|
UTSW |
13 |
34,366,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R8058:Slc22a23
|
UTSW |
13 |
34,489,167 (GRCm39) |
nonsense |
probably null |
|
R9385:Slc22a23
|
UTSW |
13 |
34,528,561 (GRCm39) |
missense |
probably benign |
0.05 |
R9560:Slc22a23
|
UTSW |
13 |
34,381,851 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9630:Slc22a23
|
UTSW |
13 |
34,379,390 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0064:Slc22a23
|
UTSW |
13 |
34,528,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACCGATATGTCATGGATGTGC -3'
(R):5'- AGTGCCAAGACCCTTGTAGG -3'
Sequencing Primer
(F):5'- ATGTGCACTGGTCAGTTCC -3'
(R):5'- AGTGCCAAGACCCTTGTAGGTTATC -3'
|
Posted On |
2018-11-06 |