Incidental Mutation 'R8090:Slc22a27'
| ID |
643154 |
| 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 |
067523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 7843101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075619]
[ENSMUST00000182102]
|
| AlphaFold |
Q76M72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075619
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 92.1%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
T |
C |
11: 116,487,017 (GRCm39) |
C75R |
probably damaging |
Het |
| Ackr2 |
A |
G |
9: 121,738,045 (GRCm39) |
D140G |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,596,953 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
A |
G |
9: 111,945,769 (GRCm39) |
L593S |
unknown |
Het |
| Atn1 |
G |
A |
6: 124,722,304 (GRCm39) |
P850S |
unknown |
Het |
| Capn13 |
G |
A |
17: 73,689,849 (GRCm39) |
S54L |
probably benign |
Het |
| Cd1d2 |
C |
T |
3: 86,893,964 (GRCm39) |
P5S |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,687,263 (GRCm39) |
V13A |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,778,267 (GRCm39) |
V136A |
probably damaging |
Het |
| Cox5a |
T |
A |
9: 57,436,346 (GRCm39) |
L66M |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,685,503 (GRCm39) |
C1205F |
probably damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,264,897 (GRCm39) |
S519N |
probably benign |
Het |
| Defb50 |
G |
A |
8: 22,321,087 (GRCm39) |
G26S |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,131,606 (GRCm39) |
L1112P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Gm9837 |
A |
G |
11: 53,361,065 (GRCm39) |
S50P |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,799,931 (GRCm39) |
I859V |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,714,224 (GRCm39) |
D840E |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,662 (GRCm39) |
N67K |
possibly damaging |
Het |
| Il17re |
G |
A |
6: 113,439,250 (GRCm39) |
W53* |
probably null |
Het |
| Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,207,416 (GRCm39) |
|
probably null |
Het |
| Krt26 |
T |
C |
11: 99,227,315 (GRCm39) |
M171V |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,255,796 (GRCm39) |
L1046S |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,295,089 (GRCm39) |
P3410T |
possibly damaging |
Het |
| Madd |
T |
C |
2: 90,985,968 (GRCm39) |
K1241R |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,673,569 (GRCm39) |
S402A |
probably benign |
Het |
| Mpc1 |
A |
C |
17: 8,515,705 (GRCm39) |
Q74H |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,496,550 (GRCm39) |
V279A |
probably benign |
Het |
| Muc21 |
G |
C |
17: 35,932,617 (GRCm39) |
T523S |
unknown |
Het |
| Ndufs2 |
A |
T |
1: 171,064,247 (GRCm39) |
H380Q |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,465 (GRCm39) |
L72P |
possibly damaging |
Het |
| Nme6 |
T |
A |
9: 109,671,019 (GRCm39) |
L73* |
probably null |
Het |
| Odf2l |
G |
T |
3: 144,832,796 (GRCm39) |
A85S |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,214,048 (GRCm39) |
I146K |
probably benign |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Plpp6 |
C |
T |
19: 28,942,271 (GRCm39) |
Q291* |
probably null |
Het |
| Plxnd1 |
G |
A |
6: 115,933,578 (GRCm39) |
A1855V |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,096,345 (GRCm39) |
H249Q |
possibly damaging |
Het |
| Rnf149 |
C |
A |
1: 39,616,304 (GRCm39) |
A18S |
unknown |
Het |
| Scara5 |
C |
T |
14: 65,979,586 (GRCm39) |
R368* |
probably null |
Het |
| Sfmbt2 |
G |
A |
2: 10,466,190 (GRCm39) |
D342N |
probably benign |
Het |
| Shank3 |
T |
A |
15: 89,389,661 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
G |
T |
6: 112,757,996 (GRCm39) |
Y170* |
probably null |
Het |
| Szt2 |
A |
T |
4: 118,244,199 (GRCm39) |
|
probably null |
Het |
| Tbccd1 |
A |
G |
16: 22,660,805 (GRCm39) |
S4P |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,207 (GRCm39) |
S415P |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,982,369 (GRCm39) |
S487P |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,167,640 (GRCm39) |
Q300R |
possibly damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Yif1b |
A |
G |
7: 28,943,726 (GRCm39) |
N93S |
probably benign |
Het |
| Zdhhc22 |
C |
A |
12: 87,030,394 (GRCm39) |
V185F |
probably benign |
Het |
| Zfp638 |
G |
T |
6: 83,906,801 (GRCm39) |
S322I |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,943 (GRCm39) |
H665L |
probably damaging |
Het |
| Zfp799 |
C |
T |
17: 33,039,949 (GRCm39) |
V106I |
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 |
|
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'- GGGACTTCTGAATCTACAGGAC -3'
(R):5'- ACAGCTGTAGGAGTCATTGGG -3'
Sequencing Primer
(F):5'- TTGTCCTCATTCAAAATACTGACCAC -3'
(R):5'- GTTCTTTGGTAATAGTGGATCATTCC -3'
|
| Posted On |
2020-08-05 |
Incidental Mutation