Incidental Mutation 'R9461:Slc22a22'
| ID |
714886 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R9461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57107163-57341021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57108342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 491
(Y491C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022995]
[ENSMUST00000110196]
|
| AlphaFold |
Q8R0S9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022995
AA Change: Y491C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: Y491C
| 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 damaging
Transcript: ENSMUST00000110196
AA Change: Y491C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: Y491C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Abhd18 |
A |
T |
3: 40,859,319 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,116,736 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
C |
A |
9: 111,965,704 (GRCm39) |
R422L |
probably damaging |
Het |
| Ccdc190 |
G |
A |
1: 169,761,489 (GRCm39) |
G197D |
probably benign |
Het |
| Cdc42bpa |
G |
T |
1: 179,969,861 (GRCm39) |
L1243F |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,564,011 (GRCm39) |
F462I |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,362,894 (GRCm39) |
E295G |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,186,879 (GRCm39) |
E1227* |
probably null |
Het |
| Col5a1 |
A |
T |
2: 27,922,616 (GRCm39) |
D1717V |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,460,435 (GRCm39) |
S448P |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,173 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,842,601 (GRCm39) |
G1223D |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,765,869 (GRCm39) |
R670G |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,668 (GRCm39) |
I738V |
probably benign |
Het |
| Gas2l2 |
T |
A |
11: 83,313,031 (GRCm39) |
R760S |
probably damaging |
Het |
| H1f7 |
C |
T |
15: 98,155,138 (GRCm39) |
A4T |
probably damaging |
Het |
| Kif17 |
G |
A |
4: 138,005,253 (GRCm39) |
V273I |
probably damaging |
Het |
| Klhdc4 |
T |
C |
8: 122,526,224 (GRCm39) |
D336G |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,568 (GRCm39) |
N181S |
probably benign |
Het |
| Lrp8 |
G |
A |
4: 107,700,515 (GRCm39) |
G151D |
possibly damaging |
Het |
| Mb21d2 |
C |
T |
16: 28,647,261 (GRCm39) |
V238M |
probably damaging |
Het |
| Mfsd4b3-ps |
T |
G |
10: 39,823,247 (GRCm39) |
I338L |
probably benign |
Het |
| Nkain2 |
C |
T |
10: 32,766,125 (GRCm39) |
A112T |
unknown |
Het |
| Or14c41 |
T |
A |
7: 86,235,247 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,583 (GRCm39) |
I307F |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,875 (GRCm39) |
V210E |
possibly damaging |
Het |
| Or5i1 |
A |
G |
2: 87,612,883 (GRCm39) |
I2V |
probably benign |
Het |
| Pacs2 |
A |
G |
12: 113,010,727 (GRCm39) |
I126V |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,395,243 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Ppm1k |
T |
C |
6: 57,487,720 (GRCm39) |
S368G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,163 (GRCm39) |
D1063G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,449,438 (GRCm39) |
M322T |
probably benign |
Het |
| Serbp1 |
G |
A |
6: 67,244,313 (GRCm39) |
R78H |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,574,192 (GRCm39) |
N127K |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,423,898 (GRCm39) |
|
probably null |
Het |
| Smpd1 |
C |
T |
7: 105,204,789 (GRCm39) |
L223F |
probably damaging |
Het |
| Spem1 |
T |
C |
11: 69,711,741 (GRCm39) |
K308E |
probably benign |
Het |
| Spsb1 |
A |
T |
4: 149,990,907 (GRCm39) |
C220* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,173,962 (GRCm39) |
S190R |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,339,719 (GRCm39) |
S705P |
possibly damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,781 (GRCm39) |
F553L |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,910,435 (GRCm39) |
Y55H |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
| Tut7 |
G |
A |
13: 59,963,512 (GRCm39) |
T282I |
probably damaging |
Het |
| Txnl1 |
T |
C |
18: 63,810,050 (GRCm39) |
N131S |
probably benign |
Het |
| Vat1 |
T |
C |
11: 101,353,846 (GRCm39) |
T175A |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,029,066 (GRCm39) |
D651V |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,554,500 (GRCm39) |
S493T |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCATTCAGACTTCCCAACAC -3'
(R):5'- TGCTATTATGGAACTCTAGAAGGC -3'
Sequencing Primer
(F):5'- GTTCAATTCACATATCAATCACAGC -3'
(R):5'- CTAGAAGGCATTGATATATATGCCAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation