Incidental Mutation 'R3959:Slc22a27'
| ID |
310859 |
| 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 |
040835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R3959 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7887414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 188
(T188I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075619]
[ENSMUST00000182102]
|
| AlphaFold |
Q76M72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075619
AA Change: T188I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: T188I
| 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 benign
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 |
0.2879 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,908 (GRCm39) |
H194R |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,507,585 (GRCm39) |
I2976K |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,362,329 (GRCm39) |
H3730R |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,162,305 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
T |
7: 89,604,149 (GRCm39) |
R441Q |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,573,120 (GRCm39) |
V944E |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,725 (GRCm39) |
Q225L |
probably benign |
Het |
| Mapk8 |
A |
C |
14: 33,104,210 (GRCm39) |
M402R |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,532,688 (GRCm39) |
Y389C |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,333,345 (GRCm39) |
I147T |
probably benign |
Het |
| Nfatc3 |
C |
T |
8: 106,825,709 (GRCm39) |
R587* |
probably null |
Het |
| Nin |
A |
T |
12: 70,097,526 (GRCm39) |
F516L |
probably damaging |
Het |
| Npm1 |
T |
A |
11: 33,104,012 (GRCm39) |
N272Y |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,848,590 (GRCm39) |
E787G |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,340 (GRCm39) |
V89I |
probably benign |
Het |
| Ppp1r21 |
A |
G |
17: 88,857,244 (GRCm39) |
E189G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,536,461 (GRCm39) |
|
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,599,964 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,399 (GRCm39) |
I87N |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,886,589 (GRCm39) |
C1930* |
probably null |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,047,947 (GRCm39) |
M6I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,339 (GRCm39) |
L237I |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,142 (GRCm39) |
Q357P |
probably damaging |
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 |
|
R1165:Slc22a27
|
UTSW |
19 |
7,887,059 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
PCR Primer
(F):5'- AAAGCGCTGCCATCATGG -3'
(R):5'- AAATCTTTTGAGTTCATGCACTCTCTG -3'
Sequencing Primer
(F):5'- GGGCTTGTCCATTCTAACACTGAAAG -3'
(R):5'- GAGTTCATGCACTCTCTGTTATTTAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation