Incidental Mutation 'R8435:Slc22a28'
| ID |
653975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a28
|
| Ensembl Gene |
ENSMUSG00000063590 |
| Gene Name |
solute carrier family 22, member 28 |
| Synonyms |
Gm5631 |
| MMRRC Submission |
067824-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R8435 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8039574-8109346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8048565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 361
(T361S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065651]
|
| AlphaFold |
B2RT89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065651
AA Change: T361S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000067114
Gene: ENSMUSG00000063590
AA Change: T361S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
G |
T |
12: 24,146,881 (GRCm39) |
T30K |
possibly damaging |
Het |
| Adam20 |
C |
T |
8: 41,248,072 (GRCm39) |
P61S |
probably damaging |
Het |
| Akip1 |
C |
T |
7: 109,304,193 (GRCm39) |
S90L |
unknown |
Het |
| Atp13a5 |
C |
T |
16: 29,099,747 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,490,078 (GRCm39) |
Y684H |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,501,682 (GRCm39) |
C20S |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,203,161 (GRCm39) |
I634M |
possibly damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,280 (GRCm39) |
S17P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,321,715 (GRCm39) |
T366A |
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,251,589 (GRCm39) |
V1196I |
probably benign |
Het |
| Ddc |
A |
T |
11: 11,814,902 (GRCm39) |
S188T |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,729,070 (GRCm39) |
C82R |
possibly damaging |
Het |
| Fig4 |
T |
A |
10: 41,161,670 (GRCm39) |
H31L |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,621,752 (GRCm39) |
D366G |
possibly damaging |
Het |
| Ift80 |
A |
G |
3: 68,892,787 (GRCm39) |
S134P |
probably damaging |
Het |
| Lacc1 |
A |
T |
14: 77,272,475 (GRCm39) |
V107D |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,004,316 (GRCm39) |
E51G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,392,199 (GRCm39) |
Y2815H |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,307,998 (GRCm39) |
L481P |
probably damaging |
Het |
| Ltbp4 |
C |
A |
7: 27,034,870 (GRCm39) |
R97L |
unknown |
Het |
| Mbnl1 |
G |
A |
3: 60,437,090 (GRCm39) |
W13* |
probably null |
Het |
| Neb |
T |
A |
2: 52,157,729 (GRCm39) |
T2293S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
T |
G |
1: 150,258,020 (GRCm39) |
K205T |
possibly damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,657 (GRCm39) |
T259S |
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,676 (GRCm39) |
I45V |
probably benign |
Het |
| Or8a1b |
T |
A |
9: 37,622,846 (GRCm39) |
H243L |
probably damaging |
Het |
| Pcmt1 |
G |
A |
10: 7,515,825 (GRCm39) |
P221L |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,648 (GRCm39) |
D14V |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,048 (GRCm39) |
S28P |
probably benign |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,522 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Rpl18a |
C |
T |
8: 71,348,341 (GRCm39) |
G114D |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,995,897 (GRCm39) |
D927G |
possibly damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,798,734 (GRCm39) |
C395Y |
probably benign |
Het |
| Slc35f5 |
C |
T |
1: 125,488,994 (GRCm39) |
R5* |
probably null |
Het |
| Slc37a4 |
G |
A |
9: 44,310,759 (GRCm39) |
C121Y |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,376 (GRCm39) |
W483* |
probably null |
Het |
| Tex101 |
G |
A |
7: 24,367,791 (GRCm39) |
T187I |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,610,441 (GRCm39) |
L303P |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,647,827 (GRCm39) |
Y329N |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,032,149 (GRCm39) |
S753I |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,546,264 (GRCm39) |
T32383I |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,544 (GRCm39) |
E234G |
probably damaging |
Het |
| Vmn1r120 |
T |
A |
7: 20,787,557 (GRCm39) |
R51S |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,172 (GRCm39) |
T348S |
probably benign |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,714 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zfp236 |
C |
T |
18: 82,658,366 (GRCm39) |
G632D |
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 |
|
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 |
|
|
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 |
|
|
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'- AGGTACAAATACAGCAGTCAACATG -3'
(R):5'- CGATGTGATCACTCATTACACAATG -3'
Sequencing Primer
(F):5'- GTCAACATGAAGATTCCCCTCAGG -3'
(R):5'- TCATTACACAATGATTCTTGGTAGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation