Incidental Mutation 'R5181:Slc22a22'
| ID |
397570 |
| 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 |
042761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57118519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 264
(Y264F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
[ENSMUST00000137764]
|
| AlphaFold |
Q8R0S9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022995
AA Change: Y264F
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: Y264F
| 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: Y264F
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: Y264F
| 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 benign
Transcript: ENSMUST00000137764
|
| SMART Domains |
Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,764,937 (GRCm39) |
D642E |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,383,347 (GRCm39) |
V54A |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,917,614 (GRCm39) |
S595P |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,948,064 (GRCm39) |
E1208K |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,075,384 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,799 (GRCm39) |
H9L |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,951,747 (GRCm39) |
I403T |
possibly damaging |
Het |
| Cyrib |
T |
A |
15: 63,810,526 (GRCm39) |
M234L |
probably damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,386,347 (GRCm39) |
T407K |
possibly damaging |
Het |
| Dennd2b |
T |
C |
7: 109,155,997 (GRCm39) |
Y251C |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,793,618 (GRCm39) |
S29C |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,281,555 (GRCm39) |
T519A |
probably damaging |
Het |
| Isl2 |
G |
T |
9: 55,449,561 (GRCm39) |
R79L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,350,336 (GRCm39) |
D742E |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,711,792 (GRCm39) |
K176M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,627,665 (GRCm39) |
D66G |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,645,806 (GRCm39) |
G116D |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,921,071 (GRCm39) |
D1397G |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,204 (GRCm39) |
H320R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,685,561 (GRCm39) |
Y562* |
probably null |
Het |
| Nrap |
G |
A |
19: 56,333,960 (GRCm39) |
H884Y |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,440,719 (GRCm39) |
D67N |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,426,981 (GRCm39) |
|
probably null |
Het |
| Pgm2l1 |
G |
A |
7: 99,910,965 (GRCm39) |
C303Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,753,243 (GRCm39) |
|
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,932 (GRCm39) |
I228T |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,536 (GRCm39) |
S585P |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,339 (GRCm39) |
I718T |
probably damaging |
Het |
| Rpp40 |
T |
C |
13: 36,080,695 (GRCm39) |
|
probably null |
Het |
| Skic2 |
T |
C |
17: 35,063,802 (GRCm39) |
D547G |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 75,896,221 (GRCm39) |
L578* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Sult2a4 |
T |
G |
7: 13,722,316 (GRCm39) |
I50L |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,683 (GRCm39) |
T288A |
possibly damaging |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmem98 |
T |
C |
11: 80,710,758 (GRCm39) |
V139A |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,851,954 (GRCm39) |
Y703H |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,946,703 (GRCm39) |
T868A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,665,225 (GRCm39) |
|
probably benign |
Het |
| Vipas39 |
A |
T |
12: 87,286,601 (GRCm39) |
W470R |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,001 (GRCm39) |
N335S |
possibly damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,387 (GRCm39) |
Y697H |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,156,203 (GRCm39) |
R461S |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,193,567 (GRCm39) |
L87Q |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,945,281 (GRCm39) |
K101* |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,705 (GRCm39) |
A404S |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
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 |
|
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 |
|
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'- CTAAGGCTGTTAACGTTTACTTCCTG -3'
(R):5'- TCCTTAAGTCACTATTGGTCATGGC -3'
Sequencing Primer
(F):5'- AACGTTTACTTCCTGCATGTTATAC -3'
(R):5'- TGGTCATGGCAATAAAACACCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation