Incidental Mutation 'R4209:Slc22a21'
ID |
319082 |
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 |
041038-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4209 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
53840791-53871158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53846881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 331
(S331P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076493]
[ENSMUST00000124221]
[ENSMUST00000143352]
|
AlphaFold |
Q9WTN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076493
AA Change: S331P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000075814 Gene: ENSMUSG00000063652 AA Change: S331P
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
|
Meta Mutation Damage Score |
0.0954 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (45/46) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
Ap3b2 |
C |
A |
7: 81,126,884 (GRCm39) |
A289S |
probably benign |
Het |
Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
Fezf1 |
T |
C |
6: 23,246,616 (GRCm39) |
K323E |
probably damaging |
Het |
Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,410,809 (GRCm39) |
S378P |
probably benign |
Het |
Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
Irf8 |
T |
A |
8: 121,480,208 (GRCm39) |
Y149N |
probably damaging |
Het |
Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
Sesn3 |
T |
C |
9: 14,217,505 (GRCm39) |
I30T |
probably benign |
Het |
Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
probably damaging |
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 |
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 |
R6200:Slc22a21
|
UTSW |
11 |
53,848,864 (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'- AAACTGTTACGTCCCCATGG -3'
(R):5'- ACATCCCCTTGAGTCATTGTAC -3'
Sequencing Primer
(F):5'- ATGGCTGCTATCCATCACAAGGG -3'
(R):5'- CTTCTGTCTTTTCAAGGAAGAACC -3'
|
Posted On |
2015-06-10 |