Incidental Mutation 'IGL01140:Slc22a22'
| ID |
52857 |
| 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 # |
IGL01140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57126734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 93
(T93A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
[ENSMUST00000137764]
|
| AlphaFold |
Q8R0S9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022995
AA Change: T112A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: T112A
| 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 |
possibly damaging
Transcript: ENSMUST00000110196
AA Change: T112A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: T112A
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137764
AA Change: T93A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
AA Change: T93A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
A |
G |
5: 90,672,726 (GRCm39) |
E187G |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,317 (GRCm39) |
V205A |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,702,575 (GRCm39) |
I279V |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,766,932 (GRCm39) |
V436I |
possibly damaging |
Het |
| Cald1 |
T |
A |
6: 34,739,196 (GRCm39) |
S640T |
possibly damaging |
Het |
| Cdc23 |
A |
G |
18: 34,769,385 (GRCm39) |
Y460H |
probably benign |
Het |
| Cenpk |
T |
A |
13: 104,372,742 (GRCm39) |
|
probably benign |
Het |
| Ctss |
A |
G |
3: 95,446,036 (GRCm39) |
E52G |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,523 (GRCm39) |
C365S |
probably damaging |
Het |
| Cyp2c55 |
T |
C |
19: 39,007,093 (GRCm39) |
L163P |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,848,027 (GRCm39) |
S182P |
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,525,770 (GRCm39) |
E740* |
probably null |
Het |
| Galntl6 |
T |
A |
8: 58,411,356 (GRCm39) |
R291S |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,124,694 (GRCm39) |
V568I |
probably benign |
Het |
| Ift70a1 |
A |
G |
2: 75,810,259 (GRCm39) |
V608A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,220,705 (GRCm39) |
K145R |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,109,928 (GRCm39) |
V2183A |
probably benign |
Het |
| Lrmda |
C |
T |
14: 22,646,585 (GRCm39) |
A75V |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,815,258 (GRCm39) |
E282G |
probably damaging |
Het |
| Muc19 |
A |
T |
15: 91,783,593 (GRCm39) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,859,693 (GRCm39) |
T1231A |
probably benign |
Het |
| Nkpd1 |
A |
G |
7: 19,257,387 (GRCm39) |
T389A |
possibly damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,336 (GRCm39) |
*358Q |
probably null |
Het |
| Nup160 |
G |
T |
2: 90,530,909 (GRCm39) |
M522I |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,466,400 (GRCm39) |
|
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,732 (GRCm39) |
I187F |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,484 (GRCm39) |
T230A |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,457,151 (GRCm39) |
T137I |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,005,070 (GRCm39) |
P341S |
probably benign |
Het |
| Papola |
C |
A |
12: 105,775,856 (GRCm39) |
C7* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,132,386 (GRCm39) |
L525I |
probably benign |
Het |
| Prom2 |
T |
C |
2: 127,373,125 (GRCm39) |
|
probably benign |
Het |
| Psmb5 |
G |
A |
14: 54,855,264 (GRCm39) |
T62I |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,751,086 (GRCm39) |
E184G |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,952,921 (GRCm39) |
Y191C |
probably damaging |
Het |
| Ssx2ip |
A |
G |
3: 146,133,598 (GRCm39) |
Y231C |
probably benign |
Het |
| Trib1 |
A |
G |
15: 59,523,476 (GRCm39) |
Y170C |
probably damaging |
Het |
| Trmt10a |
G |
A |
3: 137,862,459 (GRCm39) |
|
probably benign |
Het |
| Troap |
G |
T |
15: 98,980,027 (GRCm39) |
Q402H |
probably damaging |
Het |
| Vmn2r70 |
G |
A |
7: 85,214,379 (GRCm39) |
Q258* |
probably null |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zmym1 |
A |
G |
4: 126,943,435 (GRCm39) |
F318L |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,745,672 (GRCm39) |
S589P |
probably benign |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation