Incidental Mutation 'R6517:Slc22a22'
| ID |
520822 |
| 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 |
044644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57114365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 321
(S321P)
|
| 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: S321P
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: S321P
| 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: S321P
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: S321P
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
T |
14: 29,704,673 (GRCm39) |
Q58* |
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,180,985 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
T |
A |
7: 80,728,327 (GRCm39) |
S486T |
possibly damaging |
Het |
| Cep162 |
T |
A |
9: 87,104,227 (GRCm39) |
E553V |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,304,360 (GRCm39) |
I370V |
possibly damaging |
Het |
| Ets1 |
A |
T |
9: 32,664,093 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
C |
T |
18: 62,666,634 (GRCm39) |
E180K |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,957,741 (GRCm39) |
D296G |
probably damaging |
Het |
| Glul |
A |
G |
1: 153,783,779 (GRCm39) |
I325V |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,693,274 (GRCm39) |
D99G |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,770,324 (GRCm39) |
I110N |
probably damaging |
Het |
| Myo1g |
T |
C |
11: 6,462,509 (GRCm39) |
N541D |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,622 (GRCm39) |
V1116D |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,441 (GRCm39) |
I145T |
probably benign |
Het |
| Piwil2 |
G |
T |
14: 70,611,785 (GRCm39) |
Q954K |
probably benign |
Het |
| Ppm1l |
T |
C |
3: 69,224,916 (GRCm39) |
M6T |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,327,907 (GRCm39) |
E861V |
possibly damaging |
Het |
| Senp2 |
C |
T |
16: 21,845,474 (GRCm39) |
T236M |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,384,528 (GRCm39) |
V156D |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,814,475 (GRCm39) |
Y1585C |
probably damaging |
Het |
| Slu7 |
T |
A |
11: 43,328,975 (GRCm39) |
Y66N |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,879,473 (GRCm39) |
H365R |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,096,410 (GRCm39) |
T246A |
probably benign |
Het |
| Taf1c |
T |
G |
8: 120,330,986 (GRCm39) |
N44T |
possibly damaging |
Het |
| Tcirg1 |
C |
T |
19: 3,951,933 (GRCm39) |
V376M |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,271,280 (GRCm39) |
D17G |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,689 (GRCm39) |
V672A |
probably benign |
Het |
| Zdbf2 |
T |
G |
1: 63,344,679 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,150 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp986 |
G |
C |
4: 145,625,870 (GRCm39) |
D177H |
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 |
|
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 |
|
|
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 |
|
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'- GCTTAGCACGATGATGACGTAG -3'
(R):5'- TGACCTTGTCAGATTAGTGTGC -3'
Sequencing Primer
(F):5'- CGTAGTTGACTATATGACAGTGAAG -3'
(R):5'- ATGGGAGTCAGTTCTAGACTTACC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation