Incidental Mutation 'R5611:Slc22a23'
| ID |
438043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a23
|
| Ensembl Gene |
ENSMUSG00000038267 |
| Gene Name |
solute carrier family 22, member 23 |
| Synonyms |
3110004L20Rik |
| MMRRC Submission |
043273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R5611 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34489222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 221
(T221I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
| AlphaFold |
Q3UHH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040336
AA Change: T221I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: T221I
| 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 |
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: T105I
|
| SMART Domains |
Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: T105I
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
C |
11: 48,910,828 (GRCm39) |
T535R |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,749 (GRCm39) |
F299I |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,171,161 (GRCm39) |
M1854T |
possibly damaging |
Het |
| Adrm1b |
G |
A |
3: 92,335,758 (GRCm39) |
P315S |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,690 (GRCm39) |
V581A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,935,240 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
T |
C |
18: 61,640,334 (GRCm39) |
T242A |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,534,598 (GRCm39) |
V265A |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,954 (GRCm39) |
R556* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,360 (GRCm39) |
I101T |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,577,575 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,542 (GRCm39) |
H206R |
probably damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,082 (GRCm39) |
G207D |
possibly damaging |
Het |
| Chrd |
A |
T |
16: 20,557,724 (GRCm39) |
D774V |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,825,503 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,987,942 (GRCm39) |
V704I |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,945,569 (GRCm39) |
Q312H |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,041,860 (GRCm39) |
T154S |
probably damaging |
Het |
| Foxi2 |
T |
C |
7: 135,013,433 (GRCm39) |
V221A |
probably benign |
Het |
| Gabbr2 |
A |
T |
4: 46,804,105 (GRCm39) |
I250N |
probably damaging |
Het |
| Gfap |
T |
A |
11: 102,787,895 (GRCm39) |
T17S |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,230,596 (GRCm39) |
V64A |
probably damaging |
Het |
| Igkv4-86 |
A |
G |
6: 68,887,659 (GRCm39) |
S27P |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,996,150 (GRCm39) |
F903L |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,745,304 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,219 (GRCm39) |
T656A |
probably benign |
Het |
| Mss51 |
G |
T |
14: 20,533,174 (GRCm39) |
S432R |
possibly damaging |
Het |
| Mzf1 |
A |
G |
7: 12,778,554 (GRCm39) |
|
probably benign |
Het |
| Nop58 |
T |
A |
1: 59,749,672 (GRCm39) |
|
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,975 (GRCm39) |
I77F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,622,630 (GRCm39) |
E1652G |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,295,247 (GRCm39) |
N1459K |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,969,673 (GRCm39) |
G61D |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,203,065 (GRCm39) |
S581P |
probably benign |
Het |
| Ppm1g |
A |
G |
5: 31,363,441 (GRCm39) |
F256L |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,386,296 (GRCm39) |
N726S |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,448 (GRCm39) |
D480G |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,244,663 (GRCm39) |
Q772* |
probably null |
Het |
| Sh3gl2 |
T |
C |
4: 85,273,568 (GRCm39) |
V40A |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,040,698 (GRCm39) |
T518S |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,711,173 (GRCm39) |
|
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,555,409 (GRCm39) |
D207G |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,421,725 (GRCm39) |
T609S |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Tle4 |
T |
C |
19: 14,427,159 (GRCm39) |
D754G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,869 (GRCm39) |
W26949* |
probably null |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,743 (GRCm39) |
S157A |
probably damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,692 (GRCm39) |
L203M |
probably benign |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,362 (GRCm39) |
L8P |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,904 (GRCm39) |
D232G |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,030 (GRCm39) |
D300E |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,654,951 (GRCm39) |
K453* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,261,130 (GRCm39) |
N599S |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,568,348 (GRCm39) |
N1214Y |
probably benign |
Het |
| Zc3h18 |
T |
G |
8: 123,135,109 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
A |
G |
17: 21,684,354 (GRCm39) |
E323G |
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 |
|
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'- AGCTTCTCTTCTGGCATCAGTG -3'
(R):5'- TGGATTTTCAGCAGCCCACG -3'
Sequencing Primer
(F):5'- CAAAGGCACAGTGACCCGG -3'
(R):5'- AGCAGCCCACGATGATATTCTTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation