Incidental Mutation 'R5828:Slc22a27'
| ID |
450301 |
| 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: 0.058)
|
| Stock # |
R5828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 7903767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 123
(D123E)
|
| 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: D123E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: D123E
| 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: D123E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: D123E
| 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 |
0.4790 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,144 (GRCm39) |
D95G |
unknown |
Het |
| Arl10 |
T |
A |
13: 54,726,768 (GRCm39) |
V182E |
probably damaging |
Het |
| Cacna1g |
T |
G |
11: 94,347,980 (GRCm39) |
S703R |
probably damaging |
Het |
| Ces2a |
C |
A |
8: 105,465,956 (GRCm39) |
T363N |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,300,372 (GRCm39) |
V967I |
unknown |
Het |
| Col22a1 |
A |
T |
15: 71,881,340 (GRCm39) |
F4I |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,173,302 (GRCm39) |
W289R |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,763 (GRCm39) |
Q793R |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,369,388 (GRCm39) |
T4337I |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,536 (GRCm39) |
V363D |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,242,699 (GRCm39) |
T1147A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,064,066 (GRCm39) |
Y2048N |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,121,492 (GRCm39) |
|
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,471 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
C |
9: 4,432,832 (GRCm39) |
L784V |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,738,956 (GRCm39) |
Y105C |
probably benign |
Het |
| Hpgd |
T |
C |
8: 56,772,106 (GRCm39) |
S193P |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,666,762 (GRCm39) |
W247R |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,494 (GRCm39) |
Q344R |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,267,993 (GRCm39) |
V72A |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,531,464 (GRCm39) |
V8M |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,172,144 (GRCm39) |
H253R |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,124 (GRCm39) |
K150R |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,042 (GRCm39) |
E155G |
probably benign |
Het |
| Or12k7 |
A |
G |
2: 36,959,001 (GRCm39) |
H228R |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,728 (GRCm39) |
M90L |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,005 (GRCm39) |
V163A |
possibly damaging |
Het |
| Osbpl10 |
G |
A |
9: 114,890,944 (GRCm39) |
V111M |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,877,457 (GRCm39) |
S722P |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,414,064 (GRCm39) |
D187V |
probably damaging |
Het |
| Pmf1 |
T |
C |
3: 88,303,294 (GRCm39) |
E89G |
possibly damaging |
Het |
| Polr1d |
A |
T |
5: 147,014,408 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,158,200 (GRCm39) |
Y1006H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,537,134 (GRCm39) |
K420E |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,551,006 (GRCm39) |
L159P |
probably damaging |
Het |
| Psmd6 |
G |
T |
14: 14,119,990 (GRCm38) |
D39E |
probably benign |
Het |
| Rffl |
T |
C |
11: 82,709,244 (GRCm39) |
K60E |
probably damaging |
Het |
| Rspo2 |
A |
T |
15: 42,939,283 (GRCm39) |
L169Q |
probably damaging |
Het |
| Sbf1 |
T |
A |
15: 89,172,837 (GRCm39) |
D1892V |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,424 (GRCm39) |
S475F |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,231,474 (GRCm39) |
V37E |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,137 (GRCm39) |
C35Y |
probably damaging |
Het |
| Smim23 |
T |
A |
11: 32,770,592 (GRCm39) |
K105* |
probably null |
Het |
| Soat1 |
C |
T |
1: 156,265,318 (GRCm39) |
S348N |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,851,811 (GRCm39) |
|
probably benign |
Het |
| St14 |
T |
A |
9: 31,002,803 (GRCm39) |
H700L |
probably damaging |
Het |
| St3gal1 |
T |
A |
15: 66,985,634 (GRCm39) |
K7* |
probably null |
Het |
| Tgm1 |
T |
C |
14: 55,943,011 (GRCm39) |
K610E |
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,583 (GRCm39) |
Y40N |
probably damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,585 (GRCm39) |
Y40* |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,477,130 (GRCm39) |
|
probably benign |
Het |
| Ttc9 |
C |
T |
12: 81,678,450 (GRCm39) |
P91L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,446 (GRCm39) |
S269P |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,650,410 (GRCm39) |
V858E |
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 |
|
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 |
|
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'- AGGCCATAATGTGCCATCATCC -3'
(R):5'- CCTCTGATAATGGCAGTAGGATC -3'
Sequencing Primer
(F):5'- GTCTAAAACACAAAGACTGAG -3'
(R):5'- TAGGATCCTGAGCCAAGATGACC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation