Incidental Mutation 'R1165:Slc22a27'
ID |
100986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a27
|
Ensembl Gene |
ENSMUSG00000067656 |
Gene Name |
solute carrier family 22, member 27 |
Synonyms |
AB056442, mOAT6 related protein |
MMRRC Submission |
039238-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R1165 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 7887059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075619]
[ENSMUST00000182102]
|
AlphaFold |
Q76M72 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075619
AA Change: R277G
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000093991 Gene: ENSMUSG00000067656 AA Change: R277G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
99 |
528 |
1.5e-25 |
PFAM |
Pfam:MFS_1
|
140 |
372 |
1.3e-15 |
PFAM |
Pfam:MFS_1
|
349 |
549 |
8.3e-10 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182102
|
SMART Domains |
Protein: ENSMUSP00000138475 Gene: ENSMUSG00000067656
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
241 |
441 |
1.2e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.4297 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
G |
13: 77,482,406 (GRCm39) |
C1209G |
probably benign |
Het |
Abcg2 |
C |
A |
6: 58,655,285 (GRCm39) |
L407I |
probably benign |
Het |
Adtrp |
A |
G |
13: 41,967,779 (GRCm39) |
V56A |
probably damaging |
Het |
Angptl6 |
T |
G |
9: 20,789,604 (GRCm39) |
N96T |
probably benign |
Het |
Ank3 |
C |
A |
10: 69,734,132 (GRCm39) |
N780K |
possibly damaging |
Het |
AU040320 |
A |
T |
4: 126,717,433 (GRCm39) |
|
probably benign |
Het |
Best2 |
C |
T |
8: 85,737,789 (GRCm39) |
R202H |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,978,396 (GRCm39) |
S973T |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,466,212 (GRCm39) |
V1992E |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm39) |
P539L |
probably benign |
Het |
Ccr1 |
A |
T |
9: 123,763,531 (GRCm39) |
V333E |
possibly damaging |
Het |
Celf5 |
A |
T |
10: 81,307,172 (GRCm39) |
V83E |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,257,275 (GRCm39) |
|
probably benign |
Het |
Coro1b |
C |
A |
19: 4,199,901 (GRCm39) |
H81N |
probably damaging |
Het |
Cwc22 |
A |
T |
2: 77,734,242 (GRCm39) |
S686T |
probably damaging |
Het |
Cyp2d26 |
C |
A |
15: 82,678,242 (GRCm39) |
G45W |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,044,051 (GRCm39) |
N297K |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,828,214 (GRCm39) |
L513Q |
probably damaging |
Het |
Erich1 |
G |
A |
8: 14,140,530 (GRCm39) |
|
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,302,518 (GRCm39) |
V286A |
possibly damaging |
Het |
Fdxr |
C |
A |
11: 115,162,608 (GRCm39) |
|
probably benign |
Het |
Gas7 |
T |
C |
11: 67,561,512 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,705,397 (GRCm39) |
D151G |
probably damaging |
Het |
Gm14410 |
A |
C |
2: 176,885,282 (GRCm39) |
Y327* |
probably null |
Het |
Grep1 |
A |
C |
17: 23,929,489 (GRCm39) |
|
probably benign |
Het |
H6pd |
A |
G |
4: 150,080,413 (GRCm39) |
I136T |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,810,947 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,668,840 (GRCm39) |
T519A |
possibly damaging |
Het |
Hpd |
A |
G |
5: 123,314,153 (GRCm39) |
|
probably null |
Het |
Insyn2b |
A |
G |
11: 34,352,740 (GRCm39) |
T261A |
probably benign |
Het |
Or6c76 |
A |
G |
10: 129,612,302 (GRCm39) |
D188G |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,400 (GRCm39) |
I92N |
probably damaging |
Het |
Pcdha11 |
A |
G |
18: 37,140,757 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,197,074 (GRCm39) |
I170T |
probably benign |
Het |
Rasgrp1 |
A |
T |
2: 117,115,420 (GRCm39) |
F723I |
possibly damaging |
Het |
Retnlg |
A |
G |
16: 48,694,017 (GRCm39) |
T58A |
possibly damaging |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Rtel1 |
A |
G |
2: 180,976,732 (GRCm39) |
K243E |
probably benign |
Het |
Slc19a2 |
G |
A |
1: 164,091,014 (GRCm39) |
G274D |
probably damaging |
Het |
Slc6a1 |
T |
C |
6: 114,288,790 (GRCm39) |
F266L |
probably damaging |
Het |
Snx25 |
T |
G |
8: 46,488,752 (GRCm39) |
I868L |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,036,036 (GRCm39) |
I355V |
probably benign |
Het |
Tmem198 |
A |
T |
1: 75,456,576 (GRCm39) |
|
probably benign |
Het |
Traf3ip3 |
A |
C |
1: 192,866,786 (GRCm39) |
S349A |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,862,041 (GRCm39) |
N358D |
possibly damaging |
Het |
Trmu |
A |
G |
15: 85,776,875 (GRCm39) |
T196A |
probably damaging |
Het |
Tsen2 |
A |
G |
6: 115,538,396 (GRCm39) |
Y291C |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,853,041 (GRCm39) |
F2358L |
probably benign |
Het |
Wnt2 |
T |
C |
6: 17,989,946 (GRCm39) |
H317R |
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,961,849 (GRCm39) |
V33E |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
Other mutations in Slc22a27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01994:Slc22a27
|
APN |
19 |
7,887,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02516:Slc22a27
|
APN |
19 |
7,842,176 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02961:Slc22a27
|
APN |
19 |
7,903,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03008:Slc22a27
|
APN |
19 |
7,887,067 (GRCm39) |
missense |
possibly damaging |
0.92 |
PIT4544001:Slc22a27
|
UTSW |
19 |
7,887,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Slc22a27
|
UTSW |
19 |
7,843,201 (GRCm39) |
nonsense |
probably null |
|
R0234:Slc22a27
|
UTSW |
19 |
7,904,156 (GRCm39) |
start gained |
probably benign |
|
R0234:Slc22a27
|
UTSW |
19 |
7,904,156 (GRCm39) |
start gained |
probably benign |
|
R0280:Slc22a27
|
UTSW |
19 |
7,874,187 (GRCm39) |
nonsense |
probably null |
|
R0561:Slc22a27
|
UTSW |
19 |
7,857,527 (GRCm39) |
critical splice donor site |
probably null |
|
R0597:Slc22a27
|
UTSW |
19 |
7,843,249 (GRCm39) |
missense |
probably benign |
0.00 |
R1005:Slc22a27
|
UTSW |
19 |
7,904,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1217:Slc22a27
|
UTSW |
19 |
7,904,033 (GRCm39) |
missense |
probably benign |
0.01 |
R1533:Slc22a27
|
UTSW |
19 |
7,844,348 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1940:Slc22a27
|
UTSW |
19 |
7,887,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R3714:Slc22a27
|
UTSW |
19 |
7,903,815 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3959:Slc22a27
|
UTSW |
19 |
7,887,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:Slc22a27
|
UTSW |
19 |
7,856,973 (GRCm39) |
splice site |
probably benign |
|
R4249:Slc22a27
|
UTSW |
19 |
7,903,244 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4748:Slc22a27
|
UTSW |
19 |
7,903,241 (GRCm39) |
missense |
probably benign |
|
R5220:Slc22a27
|
UTSW |
19 |
7,843,303 (GRCm39) |
missense |
probably damaging |
0.96 |
R5221:Slc22a27
|
UTSW |
19 |
7,843,303 (GRCm39) |
missense |
probably damaging |
0.96 |
R5232:Slc22a27
|
UTSW |
19 |
7,843,303 (GRCm39) |
missense |
probably damaging |
0.96 |
R5330:Slc22a27
|
UTSW |
19 |
7,856,820 (GRCm39) |
missense |
probably benign |
0.13 |
R5331:Slc22a27
|
UTSW |
19 |
7,856,820 (GRCm39) |
missense |
probably benign |
0.13 |
R5345:Slc22a27
|
UTSW |
19 |
7,843,303 (GRCm39) |
missense |
probably damaging |
0.96 |
R5427:Slc22a27
|
UTSW |
19 |
7,856,753 (GRCm39) |
critical splice donor site |
probably null |
|
R5534:Slc22a27
|
UTSW |
19 |
7,903,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R5691:Slc22a27
|
UTSW |
19 |
7,904,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5828:Slc22a27
|
UTSW |
19 |
7,903,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R5878:Slc22a27
|
UTSW |
19 |
7,904,122 (GRCm39) |
missense |
probably benign |
0.01 |
R5918:Slc22a27
|
UTSW |
19 |
7,887,411 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6185:Slc22a27
|
UTSW |
19 |
7,903,953 (GRCm39) |
missense |
probably benign |
0.14 |
R6901:Slc22a27
|
UTSW |
19 |
7,903,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7139:Slc22a27
|
UTSW |
19 |
7,903,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R7336:Slc22a27
|
UTSW |
19 |
7,904,054 (GRCm39) |
missense |
probably benign |
0.02 |
R7502:Slc22a27
|
UTSW |
19 |
7,903,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R7556:Slc22a27
|
UTSW |
19 |
7,843,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R7737:Slc22a27
|
UTSW |
19 |
7,874,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R7860:Slc22a27
|
UTSW |
19 |
7,887,472 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8050:Slc22a27
|
UTSW |
19 |
7,857,532 (GRCm39) |
missense |
probably benign |
0.18 |
R8090:Slc22a27
|
UTSW |
19 |
7,843,101 (GRCm39) |
splice site |
probably null |
|
R8150:Slc22a27
|
UTSW |
19 |
7,887,390 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8974:Slc22a27
|
UTSW |
19 |
7,903,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R9246:Slc22a27
|
UTSW |
19 |
7,874,209 (GRCm39) |
missense |
probably benign |
0.36 |
R9425:Slc22a27
|
UTSW |
19 |
7,874,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Slc22a27
|
UTSW |
19 |
7,843,227 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9731:Slc22a27
|
UTSW |
19 |
7,904,126 (GRCm39) |
nonsense |
probably null |
|
RF012:Slc22a27
|
UTSW |
19 |
7,903,949 (GRCm39) |
missense |
probably benign |
0.07 |
Z1177:Slc22a27
|
UTSW |
19 |
7,887,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |