Incidental Mutation 'R3707:Slc22a22'
ID |
258766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a22
|
Ensembl Gene |
ENSMUSG00000022366 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 22 |
Synonyms |
OAT-PG, BC026439 |
MMRRC Submission |
040700-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R3707 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57114369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 319
(L319F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
|
AlphaFold |
Q8R0S9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022995
AA Change: L319F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022995 Gene: ENSMUSG00000022366 AA Change: L319F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
117 |
483 |
1.2e-26 |
PFAM |
Pfam:Sugar_tr
|
144 |
447 |
1.3e-20 |
PFAM |
Pfam:Sugar_tr
|
393 |
553 |
3.2e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110196
AA Change: L319F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105825 Gene: ENSMUSG00000022366 AA Change: L319F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
116 |
483 |
1.4e-26 |
PFAM |
Pfam:Sugar_tr
|
145 |
426 |
1e-19 |
PFAM |
Pfam:Sugar_tr
|
391 |
553 |
2.7e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Avpr1a |
T |
A |
10: 122,285,014 (GRCm39) |
F102Y |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Mtg1 |
A |
T |
7: 139,729,717 (GRCm39) |
K269M |
probably damaging |
Het |
Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
Rufy3 |
G |
A |
5: 88,790,891 (GRCm39) |
A531T |
probably benign |
Het |
Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
|
Other mutations in Slc22a22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01137:Slc22a22
|
APN |
15 |
57,117,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01140:Slc22a22
|
APN |
15 |
57,126,734 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02350:Slc22a22
|
APN |
15 |
57,110,844 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02357:Slc22a22
|
APN |
15 |
57,110,844 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03115:Slc22a22
|
APN |
15 |
57,126,670 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03244:Slc22a22
|
APN |
15 |
57,112,948 (GRCm39) |
splice site |
probably benign |
|
IGL03384:Slc22a22
|
APN |
15 |
57,117,612 (GRCm39) |
missense |
probably benign |
0.01 |
R0371:Slc22a22
|
UTSW |
15 |
57,113,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0501:Slc22a22
|
UTSW |
15 |
57,113,046 (GRCm39) |
missense |
probably benign |
0.16 |
R0684:Slc22a22
|
UTSW |
15 |
57,126,758 (GRCm39) |
missense |
probably benign |
0.04 |
R0722:Slc22a22
|
UTSW |
15 |
57,119,949 (GRCm39) |
splice site |
probably null |
|
R1240:Slc22a22
|
UTSW |
15 |
57,114,268 (GRCm39) |
missense |
probably benign |
0.02 |
R1472:Slc22a22
|
UTSW |
15 |
57,110,916 (GRCm39) |
missense |
probably benign |
0.03 |
R2040:Slc22a22
|
UTSW |
15 |
57,110,936 (GRCm39) |
nonsense |
probably null |
|
R2125:Slc22a22
|
UTSW |
15 |
57,117,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R3921:Slc22a22
|
UTSW |
15 |
57,119,940 (GRCm39) |
missense |
probably benign |
0.07 |
R4184:Slc22a22
|
UTSW |
15 |
57,119,962 (GRCm39) |
nonsense |
probably null |
|
R4561:Slc22a22
|
UTSW |
15 |
57,126,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:Slc22a22
|
UTSW |
15 |
57,126,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Slc22a22
|
UTSW |
15 |
57,113,148 (GRCm39) |
missense |
probably benign |
0.20 |
R5181:Slc22a22
|
UTSW |
15 |
57,118,519 (GRCm39) |
missense |
probably benign |
0.08 |
R5486:Slc22a22
|
UTSW |
15 |
57,126,847 (GRCm39) |
missense |
probably damaging |
0.97 |
R5621:Slc22a22
|
UTSW |
15 |
57,122,547 (GRCm39) |
missense |
probably benign |
0.02 |
R5812:Slc22a22
|
UTSW |
15 |
57,119,869 (GRCm39) |
critical splice donor site |
probably null |
|
R5958:Slc22a22
|
UTSW |
15 |
57,126,932 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6517:Slc22a22
|
UTSW |
15 |
57,114,365 (GRCm39) |
missense |
probably benign |
0.28 |
R6555:Slc22a22
|
UTSW |
15 |
57,122,527 (GRCm39) |
missense |
probably benign |
0.08 |
R6724:Slc22a22
|
UTSW |
15 |
57,110,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R6744:Slc22a22
|
UTSW |
15 |
57,117,668 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7078:Slc22a22
|
UTSW |
15 |
57,126,876 (GRCm39) |
missense |
probably benign |
0.01 |
R7085:Slc22a22
|
UTSW |
15 |
57,113,045 (GRCm39) |
missense |
probably benign |
0.00 |
R7263:Slc22a22
|
UTSW |
15 |
57,113,107 (GRCm39) |
missense |
probably benign |
|
R7335:Slc22a22
|
UTSW |
15 |
57,126,771 (GRCm39) |
missense |
probably benign |
0.19 |
R7859:Slc22a22
|
UTSW |
15 |
57,114,348 (GRCm39) |
missense |
probably benign |
0.02 |
R7871:Slc22a22
|
UTSW |
15 |
57,126,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8297:Slc22a22
|
UTSW |
15 |
57,122,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8340:Slc22a22
|
UTSW |
15 |
57,127,086 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8358:Slc22a22
|
UTSW |
15 |
57,108,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R8811:Slc22a22
|
UTSW |
15 |
57,108,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R9461:Slc22a22
|
UTSW |
15 |
57,127,052 (GRCm39) |
missense |
probably damaging |
0.99 |
R9461:Slc22a22
|
UTSW |
15 |
57,108,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGCTTAGCACGATGATGAC -3'
(R):5'- GACCTTGTCAGATTAGTGTGCTC -3'
Sequencing Primer
(F):5'- CGTAGTTGACTATATGACAGTGAAG -3'
(R):5'- ATGGGAGTCAGTTCTAGACTTACC -3'
|
Posted On |
2015-01-23 |