Incidental Mutation 'IGL02697:Slc22a28'
ID |
303963 |
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: 0.299)
|
Stock # |
IGL02697
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
8039574-8109346 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8094491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 177
(T177S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065651]
|
AlphaFold |
B2RT89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065651
AA Change: T177S
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000067114 Gene: ENSMUSG00000063590 AA Change: T177S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
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 |
IGL00515:Slc22a28
|
APN |
19 |
8,094,428 (GRCm39) |
missense |
probably benign |
0.34 |
IGL01025:Slc22a28
|
APN |
19 |
8,094,272 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |