Incidental Mutation 'R7049:Slc22a28'
| ID |
547505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a28
|
| Ensembl Gene |
ENSMUSG00000063590 |
| Gene Name |
solute carrier family 22, member 28 |
| Synonyms |
Gm5631 |
| MMRRC Submission |
045147-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R7049 (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 T
at 8049270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 326
(N326K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065651]
|
| AlphaFold |
B2RT89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065651
AA Change: N326K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067114
Gene: ENSMUSG00000063590
AA Change: N326K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,941,497 (GRCm39) |
V447A |
probably benign |
Het |
| Adam6b |
A |
G |
12: 113,454,122 (GRCm39) |
D313G |
probably damaging |
Het |
| Adcy10 |
G |
T |
1: 165,367,443 (GRCm39) |
C571F |
probably damaging |
Het |
| Anxa1 |
A |
G |
19: 20,352,635 (GRCm39) |
V313A |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,750,733 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
A |
6: 118,578,124 (GRCm39) |
C1713F |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,754,585 (GRCm39) |
N354S |
probably benign |
Het |
| Cers2 |
A |
G |
3: 95,228,965 (GRCm39) |
D200G |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,727 (GRCm39) |
L133P |
probably damaging |
Het |
| Ddhd1 |
A |
G |
14: 45,840,138 (GRCm39) |
Y16H |
probably damaging |
Het |
| Depp1 |
T |
C |
6: 116,629,254 (GRCm39) |
L199P |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,771,009 (GRCm39) |
F122L |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,431 (GRCm39) |
D386E |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,828,292 (GRCm39) |
C291S |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,596,634 (GRCm39) |
S811G |
probably damaging |
Het |
| Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
| Hrnr |
C |
A |
3: 93,230,461 (GRCm39) |
S233* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,895,573 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,246 (GRCm39) |
R420G |
possibly damaging |
Het |
| Mllt6 |
T |
A |
11: 97,564,637 (GRCm39) |
L481Q |
probably damaging |
Het |
| Mtdh |
T |
A |
15: 34,131,311 (GRCm39) |
N174K |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,386 (GRCm39) |
M1507V |
probably damaging |
Het |
| Npm3 |
A |
T |
19: 45,737,994 (GRCm39) |
M1K |
probably null |
Het |
| Or1e21 |
C |
T |
11: 73,344,430 (GRCm39) |
G203R |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,190,795 (GRCm39) |
W290R |
possibly damaging |
Het |
| Prss52 |
C |
T |
14: 64,350,021 (GRCm39) |
T216I |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,763,904 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
T |
A |
11: 43,597,018 (GRCm39) |
F453I |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,082,340 (GRCm39) |
N1422S |
probably damaging |
Het |
| Scaf4 |
A |
C |
16: 90,057,075 (GRCm39) |
I92R |
unknown |
Het |
| Slc12a1 |
A |
G |
2: 125,013,177 (GRCm39) |
K345E |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,744,576 (GRCm39) |
E311G |
possibly damaging |
Het |
| Snx7 |
C |
T |
3: 117,633,680 (GRCm39) |
R90H |
possibly damaging |
Het |
| Tex101 |
A |
G |
7: 24,367,683 (GRCm39) |
I223T |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,715,853 (GRCm39) |
K1093* |
probably null |
Het |
| Tnxb |
T |
G |
17: 34,936,242 (GRCm39) |
|
probably null |
Het |
| Trio |
T |
C |
15: 27,749,885 (GRCm39) |
N2272S |
possibly damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,756 (GRCm39) |
Y179H |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,296,550 (GRCm39) |
G745D |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,973,882 (GRCm39) |
Y300* |
probably null |
Het |
| Zfp646 |
T |
A |
7: 127,479,199 (GRCm39) |
C459S |
possibly 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 |
|
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'- GAGCCTGGCATGAAGTTTGG -3'
(R):5'- ACTTCACTGTAGAAATCCCCTGAG -3'
Sequencing Primer
(F):5'- GGCATGAAGTTTGGATGTACACACTC -3'
(R):5'- GAAATCCCCTGAGTATTTTTGTCTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation