Incidental Mutation 'R1005:Slc22a27'
| ID |
95699 |
| 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 |
039115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1005 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7904116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 7
(L7Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075619]
[ENSMUST00000182102]
|
| AlphaFold |
Q76M72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075619
AA Change: L7Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: L7Q
| 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 damaging
Transcript: ENSMUST00000182102
AA Change: L7Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: L7Q
| 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 |
0.4845 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,155,530 (GRCm39) |
D163G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,368,872 (GRCm39) |
V117M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,892,044 (GRCm39) |
M304K |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,104,511 (GRCm39) |
T563A |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,505,029 (GRCm39) |
Q488* |
probably null |
Het |
| Cbx2 |
A |
G |
11: 118,919,400 (GRCm39) |
R322G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,338,707 (GRCm39) |
T467S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,796,020 (GRCm39) |
I1252V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,789,495 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,331,007 (GRCm39) |
M185V |
probably benign |
Het |
| Flt1 |
G |
T |
5: 147,618,695 (GRCm39) |
N213K |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,346 (GRCm39) |
N265S |
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,336,262 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
A |
T |
7: 41,195,682 (GRCm39) |
C352S |
probably damaging |
Het |
| Gm9742 |
T |
C |
13: 8,085,251 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,840,921 (GRCm39) |
I18T |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,665,551 (GRCm39) |
Y523C |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,603,758 (GRCm39) |
C198* |
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,483 (GRCm39) |
H235R |
probably benign |
Het |
| Nr0b2 |
G |
T |
4: 133,280,785 (GRCm39) |
R17L |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,962 (GRCm39) |
F27L |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,826,429 (GRCm39) |
P2L |
possibly damaging |
Het |
| Prrt3 |
G |
A |
6: 113,471,739 (GRCm39) |
A811V |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,855,726 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,726 (GRCm39) |
L115P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,319,547 (GRCm39) |
E599G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,004,501 (GRCm39) |
|
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,850,984 (GRCm39) |
L427H |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,085,711 (GRCm39) |
H890Y |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,517,837 (GRCm39) |
|
probably benign |
Het |
| Sptb |
C |
T |
12: 76,648,633 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,622 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,162,789 (GRCm39) |
M16R |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,742,537 (GRCm39) |
E1385G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,903,403 (GRCm39) |
S47P |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGGTTGGGCAAAACGACGACAC -3'
(R):5'- TGCTACTCTGACAGCAATGCAGAAG -3'
Sequencing Primer
(F):5'- TGGAGATCCTCAGGAGGTCATC -3'
(R):5'- GGGACACATGAAGAACAGCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation