Incidental Mutation 'R5684:Slc22a15'
| ID |
443217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a15
|
| Ensembl Gene |
ENSMUSG00000033147 |
| Gene Name |
solute carrier family 22 (organic anion/cation transporter), member 15 |
| Synonyms |
2610034P21Rik, A530052I06Rik |
| MMRRC Submission |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101763092-101831769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101770271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 439
(S439P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106928]
[ENSMUST00000183255]
[ENSMUST00000190824]
|
| AlphaFold |
Q504N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106928
AA Change: S439P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: S439P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
58 |
495 |
6.9e-29 |
PFAM |
|
Pfam:MFS_1
|
69 |
450 |
3.4e-24 |
PFAM |
|
low complexity region
|
524 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182130
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183255
|
| SMART Domains |
Protein: ENSMUSP00000138357
Gene: ENSMUSG00000033147
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
56 |
244 |
5.2e-13 |
PFAM |
|
Pfam:MFS_1
|
69 |
244 |
7.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190824
AA Change: S284P
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: S284P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
88 |
341 |
3.3e-5 |
PFAM |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
probably benign |
Het |
|
| Other mutations in Slc22a15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Slc22a15
|
APN |
3 |
101,768,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01120:Slc22a15
|
APN |
3 |
101,804,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01345:Slc22a15
|
APN |
3 |
101,787,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01871:Slc22a15
|
APN |
3 |
101,768,110 (GRCm39) |
splice site |
probably benign |
|
|
IGL01880:Slc22a15
|
APN |
3 |
101,768,164 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0310:Slc22a15
|
UTSW |
3 |
101,767,827 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1758:Slc22a15
|
UTSW |
3 |
101,767,769 (GRCm39) |
nonsense |
probably null |
|
|
R1937:Slc22a15
|
UTSW |
3 |
101,787,505 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3804:Slc22a15
|
UTSW |
3 |
101,804,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Slc22a15
|
UTSW |
3 |
101,782,919 (GRCm39) |
intron |
probably benign |
|
|
R5564:Slc22a15
|
UTSW |
3 |
101,771,905 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6034:Slc22a15
|
UTSW |
3 |
101,770,235 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6034:Slc22a15
|
UTSW |
3 |
101,770,235 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6114:Slc22a15
|
UTSW |
3 |
101,768,168 (GRCm39) |
nonsense |
probably null |
|
|
R6481:Slc22a15
|
UTSW |
3 |
101,790,899 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6641:Slc22a15
|
UTSW |
3 |
101,783,022 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6945:Slc22a15
|
UTSW |
3 |
101,831,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7354:Slc22a15
|
UTSW |
3 |
101,771,897 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7373:Slc22a15
|
UTSW |
3 |
101,785,213 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7431:Slc22a15
|
UTSW |
3 |
101,805,256 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7758:Slc22a15
|
UTSW |
3 |
101,805,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8058:Slc22a15
|
UTSW |
3 |
101,771,926 (GRCm39) |
missense |
probably benign |
|
|
R8129:Slc22a15
|
UTSW |
3 |
101,822,658 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8838:Slc22a15
|
UTSW |
3 |
101,790,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Slc22a15
|
UTSW |
3 |
101,790,848 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACAAGCTCGGCATCTG -3'
(R):5'- AATGAAGATTGCAGGCCCTG -3'
Sequencing Primer
(F):5'- GCTCGGCATCTGCGCAG -3'
(R):5'- GCACGTATGTACAGTCAAAGCGTTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation