Incidental Mutation 'R4561:Slc22a22'
| ID |
343109 |
| 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 |
041786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57126781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 77
(Q77L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
[ENSMUST00000137764]
|
| AlphaFold |
Q8R0S9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022995
AA Change: Q96L
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: Q96L
| 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: Q96L
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: Q96L
| 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: Q77L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
AA Change: Q77L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
| Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
| Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
| Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
| Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
| Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
| Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
| Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
| Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
| Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
| Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
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 |
|
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 |
|
|
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'- ACCTTTTGTAGACTGGTGGTATTAC -3'
(R):5'- TTTTACAGCAGCCATCCCTG -3'
Sequencing Primer
(F):5'- TGTAGACTGGTGGTATTACTCTTTTC -3'
(R):5'- CCCTGCTCATCACTGTAGTATAAAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation