Incidental Mutation 'R8404:Slc22a28'
ID |
652333 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a28
|
Ensembl Gene |
ENSMUSG00000063590 |
Gene Name |
solute carrier family 22, member 28 |
Synonyms |
Gm5631 |
MMRRC Submission |
067764-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R8404 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
8039574-8109346 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 8108793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 116
(C116*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065651]
|
AlphaFold |
B2RT89 |
Predicted Effect |
probably null
Transcript: ENSMUST00000065651
AA Change: C116*
|
SMART Domains |
Protein: ENSMUSP00000067114 Gene: ENSMUSG00000063590 AA Change: C116*
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,110,145 (GRCm39) |
L599F |
probably damaging |
Het |
Accs |
T |
C |
2: 93,668,460 (GRCm39) |
Y337C |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Apcdd1 |
A |
T |
18: 63,066,986 (GRCm39) |
R33S |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,709,695 (GRCm39) |
S441P |
probably damaging |
Het |
Crlf2 |
T |
C |
5: 109,704,917 (GRCm39) |
D98G |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,850,606 (GRCm39) |
D1693G |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
Gm6899 |
C |
G |
11: 26,543,630 (GRCm39) |
R66G |
unknown |
Het |
Hira |
T |
G |
16: 18,770,912 (GRCm39) |
S850A |
possibly damaging |
Het |
Krt10 |
C |
T |
11: 99,278,359 (GRCm39) |
E267K |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,837,015 (GRCm39) |
N1074S |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,344,585 (GRCm39) |
W844* |
probably null |
Het |
Maml3 |
T |
C |
3: 51,598,077 (GRCm39) |
Y869C |
probably damaging |
Het |
Nap1l1 |
T |
A |
10: 111,317,162 (GRCm39) |
M1K |
probably null |
Het |
Nbeal2 |
C |
T |
9: 110,463,457 (GRCm39) |
S1258N |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,134 (GRCm39) |
Y134* |
probably null |
Het |
Pam |
T |
C |
1: 97,823,358 (GRCm39) |
Q271R |
probably damaging |
Het |
Pced1a |
T |
C |
2: 130,265,577 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
T |
C |
19: 47,093,231 (GRCm39) |
V503A |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pinx1 |
T |
A |
14: 64,157,063 (GRCm39) |
V330D |
unknown |
Het |
Prdm2 |
T |
C |
4: 142,861,584 (GRCm39) |
I569V |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,397,302 (GRCm39) |
D197G |
probably damaging |
Het |
Prmt8 |
C |
T |
6: 127,666,825 (GRCm39) |
C383Y |
possibly damaging |
Het |
Prss42 |
T |
C |
9: 110,629,984 (GRCm39) |
L246P |
probably damaging |
Het |
Ptpra |
C |
A |
2: 130,391,679 (GRCm39) |
D732E |
probably damaging |
Het |
Rpp30 |
T |
C |
19: 36,066,603 (GRCm39) |
L112P |
probably damaging |
Het |
Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
Slc45a2 |
T |
C |
15: 11,027,958 (GRCm39) |
I509T |
possibly damaging |
Het |
Spag7 |
T |
C |
11: 70,560,059 (GRCm39) |
S17G |
probably benign |
Het |
Trim62 |
A |
G |
4: 128,803,233 (GRCm39) |
I428V |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,751,942 (GRCm39) |
T92A |
probably damaging |
Het |
Zan |
A |
T |
5: 137,396,594 (GRCm39) |
C4321S |
unknown |
Het |
Zbtb32 |
G |
A |
7: 30,291,035 (GRCm39) |
P87S |
possibly damaging |
Het |
Zer1 |
C |
T |
2: 29,995,035 (GRCm39) |
|
probably null |
Het |
Zfat |
T |
C |
15: 67,976,916 (GRCm39) |
T1078A |
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 |
|
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 |
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'- ACAGTGATAATCTGTGGTCATCC -3'
(R):5'- CTCTGATAATGGCAGTAGGATCC -3'
Sequencing Primer
(F):5'- CTGTGGTCATCCTTAGAATAAAATGC -3'
(R):5'- TAGGATCCTGAGCCAAGATGACC -3'
|
Posted On |
2020-10-20 |