Incidental Mutation 'R4295:Slc22a21'
| ID |
323274 |
| 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 |
041084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4295 (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 C
at 53860329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 34
(D34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076493]
[ENSMUST00000124221]
[ENSMUST00000143352]
|
| AlphaFold |
Q9WTN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076493
AA Change: D165G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652
AA Change: D165G
| 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 |
noncoding transcript
Transcript: ENSMUST00000119198
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124221
AA Change: D165G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123180
Gene: ENSMUSG00000063652
AA Change: D165G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143352
AA Change: D34G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9610 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,606,249 (GRCm39) |
S164P |
probably benign |
Het |
| 4933427D06Rik |
A |
G |
6: 89,084,883 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1l2 |
C |
T |
10: 83,331,784 (GRCm39) |
V674M |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,756,479 (GRCm39) |
I870V |
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,653,239 (GRCm39) |
V3A |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,875 (GRCm39) |
N302S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,009,598 (GRCm39) |
I363N |
probably damaging |
Het |
| Fam98a |
A |
T |
17: 75,848,342 (GRCm39) |
M124K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Foxj3 |
G |
T |
4: 119,483,494 (GRCm39) |
G555* |
probably null |
Het |
| Gm4841 |
T |
C |
18: 60,403,262 (GRCm39) |
N277S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,363,410 (GRCm39) |
D863G |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lcn11 |
G |
A |
2: 25,668,111 (GRCm39) |
A90T |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,614 (GRCm39) |
Y165H |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,090 (GRCm39) |
F257I |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pcgf2 |
A |
T |
11: 97,584,282 (GRCm39) |
Y24* |
probably null |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pigf |
A |
G |
17: 87,331,184 (GRCm39) |
I46T |
probably benign |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,590 (GRCm39) |
E65G |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,972,898 (GRCm39) |
D514G |
probably damaging |
Het |
| Ttll11 |
TCGCCGCCGCCGCCGCCGCCGC |
TCGCCGCCGCCGCCGCCGC |
2: 35,869,564 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,641,786 (GRCm39) |
S1236P |
probably damaging |
Het |
| Utp20 |
G |
T |
10: 88,590,381 (GRCm39) |
D2364E |
possibly damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,665,057 (GRCm39) |
I52M |
probably benign |
Het |
| Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,816,836 (GRCm39) |
F154L |
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 |
|
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 |
|
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'- TTGACTGACTCAGGTTCCTTTG -3'
(R):5'- GAGGCCACCTGTTTTCTCTG -3'
Sequencing Primer
(F):5'- GACTGACTCAGGTTCCTTTGTTCAG -3'
(R):5'- CATTGCTGCCCAGGTGAGTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation