Incidental Mutation 'R6947:Slc22a28'
ID |
540953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a28
|
Ensembl Gene |
ENSMUSG00000063590 |
Gene Name |
solute carrier family 22, member 28 |
Synonyms |
Gm5631 |
MMRRC Submission |
045060-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R6947 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
8039574-8109346 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8041875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 444
(L444P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065651]
|
AlphaFold |
B2RT89 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065651
AA Change: L444P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000067114 Gene: ENSMUSG00000063590 AA Change: L444P
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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCATGCCCATATAAAATTGCC -3'
(R):5'- GTCACATTTCTCAACATACTAGCC -3'
Sequencing Primer
(F):5'- ACAAATTTAGAGTGTGCTGTTGC -3'
(R):5'- TCTCAACATACTAGCCATTGTAGG -3'
|
Posted On |
2018-11-28 |