Incidental Mutation 'R6927:Slc22a23'
| ID |
541177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a23
|
| Ensembl Gene |
ENSMUSG00000038267 |
| Gene Name |
solute carrier family 22, member 23 |
| Synonyms |
3110004L20Rik |
| MMRRC Submission |
045044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6927 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34528362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 140
(A140D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
| AlphaFold |
Q3UHH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040336
AA Change: A140D
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: A140D
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: A72D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: A24D
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,317 (GRCm39) |
W229R |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,998 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,930,968 (GRCm39) |
N936I |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,404,813 (GRCm39) |
S365P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,935,072 (GRCm39) |
K208E |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,364,898 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
T |
11: 106,945,421 (GRCm39) |
V2491E |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,904,619 (GRCm39) |
R83W |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,126,434 (GRCm39) |
F396L |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,893,546 (GRCm39) |
P439S |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,770 (GRCm39) |
H4279N |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,929,038 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,699,115 (GRCm39) |
D2386V |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,477,532 (GRCm39) |
V2170I |
probably benign |
Het |
| Fdps |
T |
C |
3: 89,000,958 (GRCm39) |
R374G |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,213,681 (GRCm39) |
D85G |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,861 (GRCm39) |
M144V |
possibly damaging |
Het |
| Gask1b |
T |
C |
3: 79,848,769 (GRCm39) |
I505T |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,765 (GRCm39) |
S135P |
probably damaging |
Het |
| Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,807 (GRCm39) |
I201N |
probably damaging |
Het |
| Ighv1-50 |
A |
T |
12: 115,083,794 (GRCm39) |
W3R |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,380,348 (GRCm39) |
I208T |
probably benign |
Het |
| Iqcj |
T |
C |
3: 67,954,624 (GRCm39) |
L43P |
possibly damaging |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,706,435 (GRCm39) |
C850R |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,208,205 (GRCm39) |
I341N |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,168,567 (GRCm39) |
R621* |
probably null |
Het |
| Lipm |
T |
C |
19: 34,078,563 (GRCm39) |
|
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,098,441 (GRCm39) |
D286V |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,225,411 (GRCm39) |
V27E |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,050,842 (GRCm39) |
H768Q |
probably benign |
Het |
| Mgat4d |
A |
G |
8: 84,081,496 (GRCm39) |
N83S |
probably benign |
Het |
| Nucb1 |
C |
T |
7: 45,148,282 (GRCm39) |
R141H |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,491 (GRCm39) |
K274E |
possibly damaging |
Het |
| Pcdhga2 |
A |
C |
18: 37,803,719 (GRCm39) |
D521A |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,964,586 (GRCm39) |
V251A |
probably benign |
Het |
| Pdf |
A |
T |
8: 107,774,833 (GRCm39) |
M133K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,166,057 (GRCm39) |
F2058S |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,915,982 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
G |
C |
9: 101,052,547 (GRCm39) |
H221D |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,357,503 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,947,663 (GRCm39) |
M49L |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,624,561 (GRCm39) |
V133A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,778,946 (GRCm39) |
D389V |
probably damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,641,573 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,020,519 (GRCm39) |
M284L |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,895 (GRCm39) |
I19F |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,103,300 (GRCm39) |
H812R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,057 (GRCm39) |
S174G |
possibly damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,959 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
C |
A |
11: 11,104,250 (GRCm39) |
P261T |
probably damaging |
Het |
| Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,735,640 (GRCm39) |
C1105R |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,755 (GRCm39) |
L136P |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,803,983 (GRCm39) |
R2575H |
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 |
|
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'- CGTTTTGGATGAGACCAGTGC -3'
(R):5'- TTGCTGGACTACGATGGCTC -3'
Sequencing Primer
(F):5'- ATGAGACCAGTGCGGATGCC -3'
(R):5'- ACTACGATGGCTCCGTGCTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation