Incidental Mutation 'R4095:Slc22a23'
| ID |
317877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a23
|
| Ensembl Gene |
ENSMUSG00000038267 |
| Gene Name |
solute carrier family 22, member 23 |
| Synonyms |
3110004L20Rik |
| MMRRC Submission |
040858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
34363141-34529165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34489189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 116
(L116P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040336]
|
| AlphaFold |
Q3UHH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040336
AA Change: L232P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: L232P
| 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 |
probably damaging
Transcript: ENSMUST00000148390
AA Change: L116P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: L116P
| 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 |
0.7510 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (59/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 53,186,245 (GRCm39) |
I1220L |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Apba1 |
A |
T |
19: 23,921,388 (GRCm39) |
Q737L |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,220,327 (GRCm39) |
D564E |
probably damaging |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Brd9 |
G |
A |
13: 74,092,918 (GRCm39) |
V302I |
probably benign |
Het |
| Brinp3 |
C |
A |
1: 146,777,430 (GRCm39) |
H626N |
possibly damaging |
Het |
| C1qc |
T |
C |
4: 136,617,637 (GRCm39) |
N153S |
probably benign |
Het |
| Casp3 |
G |
A |
8: 47,087,251 (GRCm39) |
G66D |
probably damaging |
Het |
| Coq7 |
T |
G |
7: 118,126,701 (GRCm39) |
|
probably null |
Het |
| Dach1 |
C |
T |
14: 98,138,815 (GRCm39) |
V491M |
possibly damaging |
Het |
| Dda1 |
A |
G |
8: 71,926,436 (GRCm39) |
T52A |
possibly damaging |
Het |
| Entpd7 |
A |
G |
19: 43,692,640 (GRCm39) |
Y65C |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,991,535 (GRCm39) |
D350G |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,343,210 (GRCm39) |
T576A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,590 (GRCm39) |
|
probably null |
Het |
| Gtf2a1 |
G |
T |
12: 91,542,411 (GRCm39) |
T57K |
possibly damaging |
Het |
| Hps5 |
T |
C |
7: 46,425,218 (GRCm39) |
E494G |
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,268,179 (GRCm39) |
N2886S |
probably damaging |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,773 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kcnf1 |
A |
T |
12: 17,225,480 (GRCm39) |
L247Q |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,516,938 (GRCm39) |
M1606V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,236,619 (GRCm39) |
T431A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,973,118 (GRCm39) |
I1562F |
probably damaging |
Het |
| Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,339,203 (GRCm39) |
T880I |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Mapt |
T |
C |
11: 104,201,362 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
T |
4: 81,302,060 (GRCm39) |
V229D |
possibly damaging |
Het |
| Or10am5 |
T |
A |
7: 6,518,252 (GRCm39) |
S59C |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,188 (GRCm39) |
T55A |
probably benign |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,039 (GRCm39) |
S136P |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,003 (GRCm39) |
S331R |
probably benign |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
| Rell1 |
C |
A |
5: 64,126,013 (GRCm39) |
V22L |
probably benign |
Het |
| Sema6c |
T |
A |
3: 95,080,505 (GRCm39) |
L901Q |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,596,925 (GRCm39) |
|
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,749 (GRCm39) |
Y427* |
probably null |
Het |
| Tmem74 |
G |
A |
15: 43,730,678 (GRCm39) |
Q122* |
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,765,048 (GRCm39) |
L10Q |
probably damaging |
Het |
| Trav6-2 |
G |
T |
14: 52,905,272 (GRCm39) |
A98S |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
| Ube2b |
A |
C |
11: 51,888,654 (GRCm39) |
V39G |
possibly damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,925,087 (GRCm39) |
T1459I |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,963,099 (GRCm39) |
K754R |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,275,602 (GRCm39) |
K240R |
probably damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
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 |
|
|
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'- AAGTGTCAGCTTCTCTTCTGGC -3'
(R):5'- CAGCAGCCCACGATGATATTC -3'
Sequencing Primer
(F):5'- AGCTTCTCTTCTGGCATCAGTGG -3'
(R):5'- CGATGATATTCTTCGTGGCAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation