Incidental Mutation 'IGL02350:Slc22a22'
ID |
289749 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc22a22
|
Ensembl Gene |
ENSMUSG00000022366 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 22 |
Synonyms |
OAT-PG, BC026439 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02350
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57110844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 461
(V461A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
|
AlphaFold |
Q8R0S9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022995
AA Change: V461A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022995 Gene: ENSMUSG00000022366 AA Change: V461A
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 benign
Transcript: ENSMUST00000110196
AA Change: V461A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105825 Gene: ENSMUSG00000022366 AA Change: V461A
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
Adamts16 |
T |
A |
13: 70,886,704 (GRCm39) |
T1029S |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,418,974 (GRCm39) |
C6007F |
probably benign |
Het |
Ak8 |
A |
T |
2: 28,590,225 (GRCm39) |
H8L |
probably benign |
Het |
Apol7b |
A |
G |
15: 77,307,832 (GRCm39) |
V221A |
probably benign |
Het |
BC005624 |
G |
A |
2: 30,863,779 (GRCm39) |
P235S |
probably benign |
Het |
Cd96 |
A |
G |
16: 45,890,139 (GRCm39) |
|
probably benign |
Het |
Celf1 |
A |
T |
2: 90,828,933 (GRCm39) |
K27I |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
Cyp3a59 |
T |
C |
5: 146,016,152 (GRCm39) |
L3P |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Dph3b-ps |
A |
G |
13: 106,683,453 (GRCm39) |
|
noncoding transcript |
Het |
Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,237,067 (GRCm39) |
N645K |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,033,578 (GRCm39) |
|
probably null |
Het |
Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
Gm5145 |
A |
T |
17: 20,790,702 (GRCm39) |
I27F |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,422,923 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
G |
4: 119,980,222 (GRCm39) |
C1753W |
probably damaging |
Het |
Hook2 |
C |
T |
8: 85,721,614 (GRCm39) |
Q291* |
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,680,192 (GRCm39) |
T722A |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
Ngdn |
T |
A |
14: 55,259,393 (GRCm39) |
V179E |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,518,225 (GRCm39) |
M68L |
probably damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,772 (GRCm39) |
L140P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
Plcb3 |
A |
C |
19: 6,935,546 (GRCm39) |
L789R |
probably damaging |
Het |
Plek |
C |
T |
11: 16,931,846 (GRCm39) |
R335H |
probably damaging |
Het |
Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
Rusc2 |
T |
G |
4: 43,425,351 (GRCm39) |
V1152G |
possibly damaging |
Het |
Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
Slc35e4 |
C |
T |
11: 3,862,640 (GRCm39) |
R183Q |
probably benign |
Het |
Spen |
T |
C |
4: 141,204,890 (GRCm39) |
T1246A |
unknown |
Het |
Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,963 (GRCm39) |
V34341A |
probably benign |
Het |
Vxn |
T |
C |
1: 9,683,544 (GRCm39) |
I44T |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,882 (GRCm39) |
V316A |
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 |
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 |
R3707:Slc22a22
|
UTSW |
15 |
57,114,369 (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 |
|
Posted On |
2015-04-16 |