Incidental Mutation 'IGL00515:Slc22a28'
| ID |
3258 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a28
|
| Ensembl Gene |
ENSMUSG00000063590 |
| Gene Name |
solute carrier family 22, member 28 |
| Synonyms |
Gm5631 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8039574-8109346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8094428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 198
(I198V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065651]
|
| AlphaFold |
B2RT89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065651
AA Change: I198V
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067114
Gene: ENSMUSG00000063590
AA Change: I198V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
527 |
1.4e-26 |
PFAM |
|
Pfam:MFS_1
|
140 |
375 |
1.1e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
| Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
| Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Slc22a28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Slc22a28
|
APN |
19 |
8,107,567 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01025:Slc22a28
|
APN |
19 |
8,094,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL02697:Slc22a28
|
APN |
19 |
8,094,491 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4378001:Slc22a28
|
UTSW |
19 |
8,049,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0744:Slc22a28
|
UTSW |
19 |
8,094,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0836:Slc22a28
|
UTSW |
19 |
8,094,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1398:Slc22a28
|
UTSW |
19 |
8,107,566 (GRCm39) |
nonsense |
probably null |
|
|
R1456:Slc22a28
|
UTSW |
19 |
8,049,223 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1603:Slc22a28
|
UTSW |
19 |
8,040,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Slc22a28
|
UTSW |
19 |
8,094,488 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2254:Slc22a28
|
UTSW |
19 |
8,041,858 (GRCm39) |
missense |
probably benign |
|
|
R2262:Slc22a28
|
UTSW |
19 |
8,048,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Slc22a28
|
UTSW |
19 |
8,078,777 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4165:Slc22a28
|
UTSW |
19 |
8,040,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4612:Slc22a28
|
UTSW |
19 |
8,078,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Slc22a28
|
UTSW |
19 |
8,108,816 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5573:Slc22a28
|
UTSW |
19 |
8,048,462 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5611:Slc22a28
|
UTSW |
19 |
8,040,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Slc22a28
|
UTSW |
19 |
8,048,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5671:Slc22a28
|
UTSW |
19 |
8,108,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Slc22a28
|
UTSW |
19 |
8,094,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6358:Slc22a28
|
UTSW |
19 |
8,049,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6385:Slc22a28
|
UTSW |
19 |
8,078,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6680:Slc22a28
|
UTSW |
19 |
8,078,757 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6767:Slc22a28
|
UTSW |
19 |
8,094,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Slc22a28
|
UTSW |
19 |
8,041,856 (GRCm39) |
nonsense |
probably null |
|
|
R6947:Slc22a28
|
UTSW |
19 |
8,041,875 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7049:Slc22a28
|
UTSW |
19 |
8,049,270 (GRCm39) |
missense |
probably benign |
|
|
R7269:Slc22a28
|
UTSW |
19 |
8,094,491 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7484:Slc22a28
|
UTSW |
19 |
8,048,492 (GRCm39) |
missense |
probably benign |
|
|
R7823:Slc22a28
|
UTSW |
19 |
8,041,890 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7856:Slc22a28
|
UTSW |
19 |
8,040,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Slc22a28
|
UTSW |
19 |
8,078,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8323:Slc22a28
|
UTSW |
19 |
8,108,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8404:Slc22a28
|
UTSW |
19 |
8,108,793 (GRCm39) |
nonsense |
probably null |
|
|
R8435:Slc22a28
|
UTSW |
19 |
8,048,565 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8529:Slc22a28
|
UTSW |
19 |
8,040,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9149:Slc22a28
|
UTSW |
19 |
8,049,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9727:Slc22a28
|
UTSW |
19 |
8,108,818 (GRCm39) |
missense |
probably benign |
|
|
R9782:Slc22a28
|
UTSW |
19 |
8,041,813 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1088:Slc22a28
|
UTSW |
19 |
8,039,763 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Slc22a28
|
UTSW |
19 |
8,039,748 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation