Incidental Mutation 'R3900:Slc22a18'
| ID |
308934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a18
|
| Ensembl Gene |
ENSMUSG00000000154 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 18 |
| Synonyms |
Orctl2, TSSC5, IMPT1, BWSCR1A, Impt1, Slc22a1l, BWR1A, p45-BWR1A |
| MMRRC Submission |
041607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3900 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143027502-143053071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143033507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 86
(A86E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052348]
[ENSMUST00000105917]
[ENSMUST00000141988]
[ENSMUST00000145943]
[ENSMUST00000150791]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052348
AA Change: A86E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: A86E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
14 |
339 |
1.1e-31 |
PFAM |
|
Pfam:MFS_1
|
229 |
410 |
5.2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105917
AA Change: A86E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: A86E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
14 |
337 |
7.8e-32 |
PFAM |
|
Pfam:MFS_3
|
66 |
346 |
6.5e-9 |
PFAM |
|
Pfam:MFS_1
|
229 |
410 |
3.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141988
|
| Predicted Effect |
silent
Transcript: ENSMUST00000145943
|
| SMART Domains |
Protein: ENSMUSP00000115345
Gene: ENSMUSG00000000154
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150791
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
T |
13: 54,700,781 (GRCm39) |
S212R |
probably damaging |
Het |
| AI182371 |
T |
C |
2: 34,975,228 (GRCm39) |
I334V |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,131,806 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
T |
G |
16: 23,796,304 (GRCm39) |
E41A |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,295,394 (GRCm39) |
I674V |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,557,930 (GRCm39) |
H1056R |
probably benign |
Het |
| Csgalnact2 |
A |
T |
6: 118,097,975 (GRCm39) |
F122I |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,291,791 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,305,510 (GRCm39) |
Y1561C |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Eml5 |
G |
A |
12: 98,791,782 (GRCm39) |
R1245C |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm6133 |
A |
G |
18: 78,393,365 (GRCm39) |
N120D |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf9 |
T |
C |
1: 172,317,125 (GRCm39) |
L35P |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
G |
T |
7: 46,985,275 (GRCm39) |
R135S |
possibly damaging |
Het |
| Or4c11b |
A |
T |
2: 88,625,273 (GRCm39) |
L182F |
possibly damaging |
Het |
| Or8g2b |
A |
G |
9: 39,750,698 (GRCm39) |
|
probably null |
Het |
| Otud3 |
T |
C |
4: 138,624,196 (GRCm39) |
N282S |
probably benign |
Het |
| Prkar1a |
A |
G |
11: 109,551,901 (GRCm39) |
K130R |
probably benign |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,818,954 (GRCm39) |
D1392E |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
| Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
| Smoc1 |
T |
C |
12: 81,214,287 (GRCm39) |
V234A |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,544,030 (GRCm39) |
T4443A |
possibly damaging |
Het |
| Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,322 (GRCm39) |
T461A |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,019,486 (GRCm39) |
D752G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,264 (GRCm39) |
I633N |
possibly damaging |
Het |
| Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,968 (GRCm39) |
A305V |
probably damaging |
Het |
| Zfp248 |
T |
C |
6: 118,406,527 (GRCm39) |
N253S |
probably damaging |
Het |
|
| Other mutations in Slc22a18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01657:Slc22a18
|
APN |
7 |
143,052,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01888:Slc22a18
|
APN |
7 |
143,033,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Slc22a18
|
APN |
7 |
143,046,574 (GRCm39) |
splice site |
probably benign |
|
|
IGL02626:Slc22a18
|
APN |
7 |
143,052,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Slc22a18
|
UTSW |
7 |
143,046,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0294:Slc22a18
|
UTSW |
7 |
143,046,578 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0571:Slc22a18
|
UTSW |
7 |
143,045,598 (GRCm39) |
splice site |
probably benign |
|
|
R1951:Slc22a18
|
UTSW |
7 |
143,029,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Slc22a18
|
UTSW |
7 |
143,029,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Slc22a18
|
UTSW |
7 |
143,051,152 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5317:Slc22a18
|
UTSW |
7 |
143,052,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5428:Slc22a18
|
UTSW |
7 |
143,033,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Slc22a18
|
UTSW |
7 |
143,044,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Slc22a18
|
UTSW |
7 |
143,044,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7688:Slc22a18
|
UTSW |
7 |
143,033,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Slc22a18
|
UTSW |
7 |
143,052,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Slc22a18
|
UTSW |
7 |
143,051,123 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9308:Slc22a18
|
UTSW |
7 |
143,044,617 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9784:Slc22a18
|
UTSW |
7 |
143,046,678 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Slc22a18
|
UTSW |
7 |
143,050,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTCTCCACTCCAACTGATG -3'
(R):5'- CTACCTGAAGCCACATTCTGG -3'
Sequencing Primer
(F):5'- AGCCTTGGTTTAAGCCCACG -3'
(R):5'- GAAGCCACATTCTGGTCTCTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation