Incidental Mutation 'RF012:Slc22a27'
| ID |
603303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a27
|
| Ensembl Gene |
ENSMUSG00000067656 |
| Gene Name |
solute carrier family 22, member 27 |
| Synonyms |
AB056442, mOAT6 related protein |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
RF012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7903949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 63
(G63S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075619]
[ENSMUST00000182102]
|
| AlphaFold |
Q76M72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075619
AA Change: G63S
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: G63S
| 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
AA Change: G63S
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: G63S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
241 |
441 |
1.2e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
89% (56/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,453,552 (GRCm39) |
L123Q |
probably damaging |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,255 (GRCm39) |
|
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,645,125 (GRCm39) |
N242I |
probably damaging |
Het |
| Ankrd7 |
G |
C |
6: 18,869,274 (GRCm39) |
E194Q |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,868 (GRCm39) |
F517L |
possibly damaging |
Het |
| Arhgef4 |
CAAA |
C |
1: 34,763,565 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
AGACGACGA |
AGACGA |
4: 133,480,131 (GRCm39) |
|
probably benign |
Het |
| Atp2c2 |
G |
T |
8: 120,472,253 (GRCm39) |
A436S |
possibly damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,782 (GRCm39) |
V107E |
probably benign |
Het |
| Begain |
CGCCGC |
CGCCGCAGCCGC |
12: 108,999,353 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,112,909 (GRCm39) |
T122S |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,327,697 (GRCm39) |
S501G |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,738,282 (GRCm39) |
L1079R |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,542,336 (GRCm39) |
K346E |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,908,694 (GRCm39) |
N325D |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,375 (GRCm39) |
E2881G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnai2 |
A |
T |
11: 114,641,242 (GRCm39) |
I356F |
probably damaging |
Het |
| Dusp4 |
ACGGCGGCGGCGGC |
ACGGCGGCGGC |
8: 35,274,953 (GRCm39) |
|
probably benign |
Het |
| Efhb |
T |
C |
17: 53,720,545 (GRCm39) |
N647D |
probably damaging |
Het |
| Efhd2 |
CCG |
CCGACGGCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,485,872 (GRCm39) |
Y318H |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,847 (GRCm39) |
H80R |
probably damaging |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,626 (GRCm39) |
|
probably benign |
Het |
| Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,901,902 (GRCm39) |
H538Q |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,122,214 (GRCm39) |
H229R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,183,447 (GRCm39) |
V41A |
probably damaging |
Het |
| Krtap28-10 |
GCCACA |
GCCACACCCACA |
1: 83,019,857 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,486,498 (GRCm39) |
S141R |
probably damaging |
Het |
| Medag |
G |
T |
5: 149,335,459 (GRCm39) |
C6F |
probably benign |
Het |
| Nefh |
GGCCTCT |
GGCCTCTCCTGGGGACTTTGCCTCT |
11: 4,891,055 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,784 (GRCm39) |
I482M |
probably damaging |
Het |
| Or12e14 |
A |
T |
2: 87,677,103 (GRCm39) |
I163L |
probably benign |
Het |
| Pgf |
T |
C |
12: 85,216,316 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTT |
TTTTTTTTTTTATTT |
15: 44,421,901 (GRCm39) |
|
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,800 (GRCm39) |
T134I |
unknown |
Het |
| Pramel32 |
T |
A |
4: 88,546,006 (GRCm39) |
R445S |
probably damaging |
Het |
| Prss52 |
A |
G |
14: 64,350,922 (GRCm39) |
S236G |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,960,105 (GRCm39) |
T223A |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,585 (GRCm39) |
N686S |
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Tmcc2 |
G |
T |
1: 132,288,756 (GRCm39) |
N310K |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,729,961 (GRCm39) |
L263Q |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,973,281 (GRCm39) |
S16P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,543,915 (GRCm39) |
T33024A |
probably benign |
Het |
| Usp2 |
A |
ACATGTGACCTGTTCTTCACTTACT |
9: 44,000,427 (GRCm39) |
|
probably benign |
Het |
| Was |
CTCCTCCT |
C |
X: 7,952,470 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
G |
11: 58,206,938 (GRCm39) |
V461A |
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 |
|
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 |
|
|
Z1177:Slc22a27
|
UTSW |
19 |
7,887,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGGATGACTTACCTCAG -3'
(R):5'- CCTGAATCAAGTTGGAAGCCTAG -3'
Sequencing Primer
(F):5'- AGGAAGTTGCTCCTGTCATACAC -3'
(R):5'- TCAAGTTGGAAGCCTAGGAAGATTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation