Incidental Mutation 'IGL01994:Slc22a27'
| ID |
183590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7841753-7943392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 7887108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 260
(H260Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075619]
[ENSMUST00000182102]
|
| AlphaFold |
Q76M72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075619
AA Change: H260Q
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: H260Q
| 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
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
A |
T |
13: 12,305,563 (GRCm39) |
Y418N |
probably benign |
Het |
| Adam15 |
T |
C |
3: 89,248,812 (GRCm39) |
|
probably benign |
Het |
| Adam32 |
C |
A |
8: 25,392,812 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,345,680 (GRCm39) |
C1574S |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,397,926 (GRCm39) |
S187P |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,156,336 (GRCm39) |
V949A |
possibly damaging |
Het |
| Atxn3 |
T |
C |
12: 101,908,439 (GRCm39) |
T138A |
probably benign |
Het |
| Atxn7l2 |
C |
T |
3: 108,110,859 (GRCm39) |
R559Q |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,706,741 (GRCm39) |
S1233R |
possibly damaging |
Het |
| Cacybp |
G |
T |
1: 160,034,206 (GRCm39) |
N101K |
probably damaging |
Het |
| Cops7b |
T |
C |
1: 86,528,828 (GRCm39) |
L185P |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,420,814 (GRCm39) |
D899G |
possibly damaging |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,150 (GRCm39) |
R85* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,550,437 (GRCm39) |
N3294T |
possibly damaging |
Het |
| Elmo1 |
T |
A |
13: 20,526,634 (GRCm39) |
Y395N |
probably damaging |
Het |
| Fam234b |
T |
A |
6: 135,202,203 (GRCm39) |
Y308* |
probably null |
Het |
| Fam43a |
A |
G |
16: 30,419,481 (GRCm39) |
K22E |
probably damaging |
Het |
| Fcer2a |
T |
C |
8: 3,738,302 (GRCm39) |
N123D |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,027 (GRCm39) |
C218R |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,537,726 (GRCm39) |
Y194C |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,507,396 (GRCm39) |
E435G |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,844,725 (GRCm39) |
E506G |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,989,948 (GRCm39) |
S1160N |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,267,417 (GRCm39) |
E605G |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,445,411 (GRCm39) |
V374A |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,612,093 (GRCm39) |
Q439R |
possibly damaging |
Het |
| Itgam |
G |
A |
7: 127,700,899 (GRCm39) |
V530M |
probably damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,931,429 (GRCm39) |
H47R |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,057 (GRCm39) |
I162F |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,059,434 (GRCm39) |
T606S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,343,199 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,313,945 (GRCm39) |
I2262T |
probably benign |
Het |
| Mamdc4 |
A |
T |
2: 25,458,546 (GRCm39) |
I317N |
possibly damaging |
Het |
| Mtmr3 |
G |
T |
11: 4,437,938 (GRCm39) |
H839N |
probably benign |
Het |
| Ncr1 |
G |
T |
7: 4,344,253 (GRCm39) |
V177F |
probably benign |
Het |
| Nop58 |
T |
C |
1: 59,743,242 (GRCm39) |
S219P |
probably damaging |
Het |
| Nrg3 |
T |
C |
14: 38,734,043 (GRCm39) |
Y281C |
probably damaging |
Het |
| Nsf |
A |
G |
11: 103,819,608 (GRCm39) |
S54P |
probably damaging |
Het |
| Or56b6 |
A |
T |
7: 104,925,153 (GRCm39) |
|
noncoding transcript |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,102 (GRCm39) |
S7T |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,685,801 (GRCm39) |
K730R |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,771,740 (GRCm39) |
|
probably benign |
Het |
| Rps13 |
A |
G |
7: 115,932,925 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
G |
7: 31,403,409 (GRCm39) |
I99T |
probably benign |
Het |
| Spata18 |
G |
T |
5: 73,814,944 (GRCm39) |
|
probably null |
Het |
| Tns2 |
A |
G |
15: 102,019,814 (GRCm39) |
E560G |
possibly damaging |
Het |
| Trbv16 |
T |
C |
6: 41,128,715 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,851,520 (GRCm39) |
I1829N |
probably damaging |
Het |
| Vcl |
C |
T |
14: 21,053,311 (GRCm39) |
T442I |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,880,731 (GRCm39) |
I24N |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,451 (GRCm39) |
D217G |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,394 (GRCm39) |
Y834H |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,045,636 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc22a27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation