Incidental Mutation 'IGL01762:Slc22a23'
| ID |
153271 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01762
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34387984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 371
(F371I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
| AlphaFold |
Q3UHH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040336
AA Change: F371I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: F371I
| 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 |
unknown
Transcript: ENSMUST00000148390
AA Change: F255I
|
| SMART Domains |
Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: F255I
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,847 (GRCm39) |
L47* |
probably null |
Het |
| Abca13 |
A |
T |
11: 9,265,423 (GRCm39) |
T3033S |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,112,480 (GRCm39) |
V503L |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,119 (GRCm39) |
D770V |
possibly damaging |
Het |
| Camkk1 |
A |
G |
11: 72,921,627 (GRCm39) |
|
probably null |
Het |
| Cd34 |
T |
A |
1: 194,621,341 (GRCm39) |
M23K |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,208 (GRCm39) |
I574T |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Galk1 |
A |
G |
11: 115,900,834 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,475,473 (GRCm39) |
I292V |
probably benign |
Het |
| Gprc5c |
A |
G |
11: 114,754,850 (GRCm39) |
I176V |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,199,538 (GRCm39) |
K258E |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,512,242 (GRCm39) |
V48A |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,084,850 (GRCm39) |
D243V |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,280,927 (GRCm39) |
K516Q |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,100,560 (GRCm39) |
S195P |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,161,750 (GRCm39) |
I477T |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,097,349 (GRCm39) |
A394T |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,214,668 (GRCm39) |
R1553* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,434,013 (GRCm39) |
I577V |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,786 (GRCm39) |
I256T |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,037,386 (GRCm38) |
T189A |
probably benign |
Het |
| Ptprr |
C |
T |
10: 116,072,638 (GRCm39) |
T200I |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,830,168 (GRCm39) |
P198L |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,849 (GRCm39) |
L447P |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,771,621 (GRCm39) |
R184G |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,056 (GRCm39) |
D217V |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,654 (GRCm39) |
F234L |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,430 (GRCm39) |
L594R |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,434 (GRCm39) |
Q376R |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,856 (GRCm39) |
D567G |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation