Incidental Mutation 'R2991:Slc22a21'
| ID |
257909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a21
|
| Ensembl Gene |
ENSMUSG00000063652 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 21 |
| Synonyms |
Octn3, Slc22a9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2991 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53840791-53871158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53850195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 220
(E220A)
|
| 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: E220A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652
AA Change: E220A
| 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
AA Change: R168S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000123180
Gene: ENSMUSG00000063652
AA Change: R168S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143352
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
| Asic2 |
C |
A |
11: 81,858,863 (GRCm39) |
V50L |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,823,521 (GRCm39) |
M324V |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
| Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
| Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
| Lypd8l |
C |
T |
11: 58,501,516 (GRCm39) |
V156I |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,401 (GRCm39) |
Y327C |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,347,432 (GRCm39) |
E479G |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,339,982 (GRCm39) |
E430G |
probably damaging |
Het |
| Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
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 |
|
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 |
|
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'- TATTGGCTATGACACAGAAGCC -3'
(R):5'- CCCTAGGAGCAAATCAGAGC -3'
Sequencing Primer
(F):5'- GCAAGTAAGCAGCCCAAGC -3'
(R):5'- GCAGACTTAGTTCAGATGTAGCCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation