Incidental Mutation 'R5345:Slc22a27'
| ID |
422592 |
| 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 |
042924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 7843303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 359
(A359P)
|
| 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: A467P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: A467P
| 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: A359P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: A359P
| 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 |
0.4204 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,687,059 (GRCm39) |
S519T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acot1 |
T |
A |
12: 84,063,942 (GRCm39) |
I350N |
probably damaging |
Het |
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,709,310 (GRCm39) |
M735T |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,497 (GRCm39) |
|
probably null |
Het |
| Cdc25b |
A |
G |
2: 131,034,516 (GRCm39) |
S222G |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,709,323 (GRCm39) |
S1390P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,676,222 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,949,773 (GRCm39) |
T320A |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,075,698 (GRCm39) |
M145L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,614,676 (GRCm39) |
I284F |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,985,947 (GRCm39) |
I565V |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,471 (GRCm39) |
N410S |
probably damaging |
Het |
| Gabrb2 |
C |
T |
11: 42,517,636 (GRCm39) |
A448V |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,402,037 (GRCm39) |
D375G |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,722,783 (GRCm39) |
V1073A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,613,078 (GRCm39) |
T139A |
probably benign |
Het |
| L1td1 |
G |
A |
4: 98,624,684 (GRCm39) |
G293D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,558 (GRCm39) |
M2873V |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,514 (GRCm39) |
W77R |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,388,364 (GRCm39) |
R1960G |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,369 (GRCm39) |
|
probably null |
Het |
| Ndufb4 |
A |
G |
16: 37,474,540 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,341 (GRCm39) |
L1089* |
probably null |
Het |
| Or10g3 |
G |
A |
14: 52,609,725 (GRCm39) |
R262* |
probably null |
Het |
| Or2l13b |
T |
A |
16: 19,349,527 (GRCm39) |
I48F |
probably damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,836 (GRCm39) |
V214A |
possibly damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,056 (GRCm39) |
T158A |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,880 (GRCm39) |
|
probably benign |
Het |
| Parl |
A |
T |
16: 20,116,892 (GRCm39) |
F102I |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,685,831 (GRCm39) |
H720L |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,693,207 (GRCm39) |
S140P |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,462 (GRCm39) |
S524P |
probably benign |
Het |
| Ripply2 |
A |
G |
9: 86,901,779 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
C |
T |
18: 12,312,234 (GRCm39) |
T158M |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,433 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4ip1 |
T |
C |
10: 43,808,466 (GRCm39) |
L81P |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,781,251 (GRCm39) |
L138P |
probably benign |
Het |
| Scp2 |
A |
T |
4: 107,912,776 (GRCm39) |
|
probably null |
Het |
| Sec24c |
T |
A |
14: 20,743,288 (GRCm39) |
M970K |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,092,968 (GRCm39) |
P340L |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,483,218 (GRCm39) |
M61K |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,548,331 (GRCm39) |
R21G |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,278,006 (GRCm39) |
L533W |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,468,595 (GRCm39) |
D77G |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,034,014 (GRCm39) |
E119V |
possibly damaging |
Het |
| Tcstv5 |
A |
T |
13: 120,411,384 (GRCm39) |
V74E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,113 (GRCm39) |
A757V |
possibly damaging |
Het |
| Tradd |
A |
T |
8: 105,986,556 (GRCm39) |
I72N |
probably damaging |
Het |
| Trbv12-1 |
C |
T |
6: 41,090,781 (GRCm39) |
T51M |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,802,392 (GRCm39) |
K605E |
probably damaging |
Het |
| Vwc2l |
A |
G |
1: 70,768,077 (GRCm39) |
D47G |
probably damaging |
Het |
| Zfp647 |
T |
A |
15: 76,795,695 (GRCm39) |
T322S |
possibly damaging |
Het |
| Zscan20 |
A |
C |
4: 128,481,914 (GRCm39) |
S583A |
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 |
|
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'- GTCAGGAAGAGGCTGATTCTTG -3'
(R):5'- AGGAAGTGTCTTCTTCATCTGAATC -3'
Sequencing Primer
(F):5'- CAGGAAGAGGCTGATTCTTGGTTTC -3'
(R):5'- TGAAACAAATTTGAGAAGGACGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation