Incidental Mutation 'R4184:Slc22a22'
ID |
319887 |
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 |
041020-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4184 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 57119962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 170
(C170*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123667
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
[ENSMUST00000137764]
|
AlphaFold |
Q8R0S9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022995
AA Change: C189*
|
SMART Domains |
Protein: ENSMUSP00000022995 Gene: ENSMUSG00000022366 AA Change: C189*
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 null
Transcript: ENSMUST00000110196
AA Change: C189*
|
SMART Domains |
Protein: ENSMUSP00000105825 Gene: ENSMUSG00000022366 AA Change: C189*
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 null
Transcript: ENSMUST00000137764
AA Change: C170*
|
SMART Domains |
Protein: ENSMUSP00000123667 Gene: ENSMUSG00000022366 AA Change: C170*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
95% (55/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
Cpne9 |
T |
A |
6: 113,259,418 (GRCm39) |
|
probably benign |
Het |
Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
Epc1 |
T |
C |
18: 6,453,578 (GRCm39) |
E249G |
possibly damaging |
Het |
Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
Gramd1a |
C |
A |
7: 30,831,940 (GRCm39) |
|
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
Kdm7a |
T |
C |
6: 39,125,911 (GRCm39) |
E628G |
probably benign |
Het |
Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,357,866 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
Slc15a1 |
G |
A |
14: 121,703,574 (GRCm39) |
T512I |
probably benign |
Het |
Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
probably 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 |
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 |
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'- CAGTGAACTGAGCCATCTTTCCAG -3'
(R):5'- GCTCCAAAATAGAACACTGTGC -3'
Sequencing Primer
(F):5'- CAGGCCTCCAACACTTTTTAAG -3'
(R):5'- AGAACACTGTGCTATTTTAGACAC -3'
|
Posted On |
2015-06-10 |