Incidental Mutation 'R6200:Slc22a21'
ID |
503151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a21
|
Ensembl Gene |
ENSMUSG00000063652 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 21 |
Synonyms |
Octn3, Slc22a9 |
MMRRC Submission |
044340-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6200 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
53840791-53871158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 53848864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 296
(I296N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076493]
[ENSMUST00000124221]
[ENSMUST00000143352]
|
AlphaFold |
Q9WTN6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076493
AA Change: I296N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075814 Gene: ENSMUSG00000063652 AA Change: I296N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
74 |
527 |
3.1e-31 |
PFAM |
Pfam:MFS_1
|
139 |
376 |
3e-13 |
PFAM |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124221
|
SMART Domains |
Protein: ENSMUSP00000123180 Gene: ENSMUSG00000063652
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129301
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143352
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
91% (32/35) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
probably benign |
Het |
|
Other mutations in Slc22a21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01389:Slc22a21
|
APN |
11 |
53,870,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Slc22a21
|
UTSW |
11 |
53,870,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R0104:Slc22a21
|
UTSW |
11 |
53,842,635 (GRCm39) |
missense |
probably null |
0.88 |
R0285:Slc22a21
|
UTSW |
11 |
53,850,022 (GRCm39) |
splice site |
probably benign |
|
R0562:Slc22a21
|
UTSW |
11 |
53,870,446 (GRCm39) |
nonsense |
probably null |
|
R0569:Slc22a21
|
UTSW |
11 |
53,842,636 (GRCm39) |
missense |
probably benign |
0.00 |
R1237:Slc22a21
|
UTSW |
11 |
53,870,598 (GRCm39) |
missense |
probably benign |
0.36 |
R2131:Slc22a21
|
UTSW |
11 |
53,870,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Slc22a21
|
UTSW |
11 |
53,842,130 (GRCm39) |
missense |
probably benign |
0.25 |
R2991:Slc22a21
|
UTSW |
11 |
53,850,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Slc22a21
|
UTSW |
11 |
53,846,881 (GRCm39) |
missense |
probably benign |
0.00 |
R4290:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4292:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4294:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4295:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Slc22a21
|
UTSW |
11 |
53,846,839 (GRCm39) |
missense |
probably benign |
0.00 |
R5194:Slc22a21
|
UTSW |
11 |
53,870,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R5214:Slc22a21
|
UTSW |
11 |
53,843,869 (GRCm39) |
missense |
probably damaging |
0.99 |
R5698:Slc22a21
|
UTSW |
11 |
53,842,175 (GRCm39) |
missense |
probably benign |
0.04 |
R6169:Slc22a21
|
UTSW |
11 |
53,848,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Slc22a21
|
UTSW |
11 |
53,870,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R6845:Slc22a21
|
UTSW |
11 |
53,870,466 (GRCm39) |
missense |
probably benign |
0.01 |
R7109:Slc22a21
|
UTSW |
11 |
53,870,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7402:Slc22a21
|
UTSW |
11 |
53,851,226 (GRCm39) |
missense |
probably benign |
0.00 |
R8515:Slc22a21
|
UTSW |
11 |
53,846,904 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8669:Slc22a21
|
UTSW |
11 |
53,870,643 (GRCm39) |
nonsense |
probably null |
|
R8911:Slc22a21
|
UTSW |
11 |
53,846,809 (GRCm39) |
critical splice donor site |
probably null |
|
R8973:Slc22a21
|
UTSW |
11 |
53,860,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9601:Slc22a21
|
UTSW |
11 |
53,850,051 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9707:Slc22a21
|
UTSW |
11 |
53,851,186 (GRCm39) |
missense |
probably benign |
0.00 |
R9743:Slc22a21
|
UTSW |
11 |
53,842,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAACACCCCTTGCCTTAGG -3'
(R):5'- CCTCAGGTAGTTACTGGGCTATC -3'
Sequencing Primer
(F):5'- CTTAGGGGTGGCCATGGC -3'
(R):5'- TTCTGGCTTATGAACACCAGAC -3'
|
Posted On |
2018-02-27 |