Incidental Mutation 'R3780:Slc22a23'
ID |
272021 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a23
|
Ensembl Gene |
ENSMUSG00000038267 |
Gene Name |
solute carrier family 22, member 23 |
Synonyms |
3110004L20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R3780 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34528323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 153
(T153I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
AlphaFold |
Q3UHH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040336
AA Change: T153I
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000042742 Gene: ENSMUSG00000038267 AA Change: T153I
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 |
noncoding transcript
Transcript: ENSMUST00000143353
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145038
AA Change: T85I
|
SMART Domains |
Protein: ENSMUSP00000122376 Gene: ENSMUSG00000038267 AA Change: T85I
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148390
AA Change: T37I
|
SMART Domains |
Protein: ENSMUSP00000122283 Gene: ENSMUSG00000038267 AA Change: T37I
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 |
0.1005 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
93% (40/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
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 |
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 |
R6933:Slc22a23
|
UTSW |
13 |
34,489,163 (GRCm39) |
missense |
probably benign |
0.08 |
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'- GTTTTGGATGAGACCAGTGC -3'
(R):5'- CTGTTGCTGGACTACGATGG -3'
Sequencing Primer
(F):5'- ATGAGACCAGTGCGGATGCC -3'
(R):5'- TGGACTACGATGGCTCCGTG -3'
|
Posted On |
2015-03-25 |