Incidental Mutation 'R0990:Slc22a23'
| ID |
97656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a23
|
| Ensembl Gene |
ENSMUSG00000038267 |
| Gene Name |
solute carrier family 22, member 23 |
| Synonyms |
3110004L20Rik |
| MMRRC Submission |
039110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R0990 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34379450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 439
(I439N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
| AlphaFold |
Q3UHH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040336
AA Change: I439N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: I439N
| 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: ENSMUST00000128392
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148390
AA Change: I323N
|
| SMART Domains |
Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: I323N
| 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: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.0%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,052,080 (GRCm39) |
V916A |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,728,315 (GRCm39) |
I759M |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,166,677 (GRCm39) |
D438G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,883,677 (GRCm39) |
Y1285C |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,960,678 (GRCm39) |
V764A |
possibly damaging |
Het |
| Cog8 |
T |
A |
8: 107,779,119 (GRCm39) |
|
probably null |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo24 |
T |
C |
5: 137,616,701 (GRCm39) |
N394S |
probably damaging |
Het |
| Gm9938 |
A |
G |
19: 23,701,956 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,050,824 (GRCm39) |
F422L |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,940,870 (GRCm39) |
C87S |
probably damaging |
Het |
| Mettl2 |
T |
A |
11: 105,028,570 (GRCm39) |
Y307* |
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,539 (GRCm39) |
D549G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,752,722 (GRCm38) |
T867A |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,119,232 (GRCm39) |
T1852S |
probably benign |
Het |
| Or5aq1 |
T |
A |
2: 86,966,086 (GRCm39) |
H193L |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,485,577 (GRCm39) |
S371T |
probably benign |
Het |
| Pkm |
A |
G |
9: 59,585,379 (GRCm39) |
T454A |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,889,343 (GRCm39) |
S340F |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,819,268 (GRCm39) |
V354I |
possibly damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,576 (GRCm39) |
T440A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,872,985 (GRCm39) |
F230S |
probably damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,078 (GRCm39) |
R615Q |
probably damaging |
Het |
| Smad1 |
T |
A |
8: 80,070,417 (GRCm39) |
I374F |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,875,576 (GRCm39) |
E143G |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,429 (GRCm39) |
S797P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTACTCACAGTTGAGAAGCC -3'
(R):5'- GCTTTGTCCTACACCCTTGGTGAAC -3'
Sequencing Primer
(F):5'- GTTGAGAAGCCCGAGCTG -3'
(R):5'- CTTGGTGAACAAAAATACCTCAAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation