Incidental Mutation 'R7375:Slc22a30'
| ID |
572357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
045458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7375 (G1)
|
| Quality Score |
105.008 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8382055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 72
(L72P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
[ENSMUST00000120540]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064507
AA Change: L72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: L72P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
439 |
3.1e-21 |
PFAM |
|
Pfam:MFS_1
|
127 |
433 |
8.8e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096269
AA Change: L72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: L72P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
527 |
9.6e-27 |
PFAM |
|
Pfam:MFS_1
|
140 |
376 |
1.2e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120540
AA Change: L72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: L72P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
435 |
1.3e-20 |
PFAM |
|
Pfam:MFS_1
|
127 |
435 |
1.5e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,968,671 (GRCm39) |
I337V |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,184 (GRCm39) |
D117G |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,563,365 (GRCm39) |
L112* |
probably null |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,694 (GRCm39) |
I468N |
possibly damaging |
Het |
| Cfap91 |
T |
A |
16: 38,155,980 (GRCm39) |
H81L |
probably damaging |
Het |
| Cmya5 |
T |
G |
13: 93,228,169 (GRCm39) |
K2306N |
probably damaging |
Het |
| Col16a1 |
A |
C |
4: 129,959,294 (GRCm39) |
K680T |
unknown |
Het |
| Col28a1 |
T |
A |
6: 7,998,499 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Crnn |
A |
T |
3: 93,056,452 (GRCm39) |
T413S |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,655,495 (GRCm39) |
L512P |
possibly damaging |
Het |
| Dlx3 |
C |
A |
11: 95,011,461 (GRCm39) |
A105D |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,550,900 (GRCm39) |
T161P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,342,794 (GRCm39) |
D3435G |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,295,524 (GRCm39) |
I541T |
probably benign |
Het |
| Efcc1 |
T |
C |
6: 87,728,838 (GRCm39) |
V431A |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,391,868 (GRCm39) |
I99T |
probably benign |
Het |
| Gm11232 |
C |
T |
4: 71,675,583 (GRCm39) |
W59* |
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,727,383 (GRCm39) |
T166S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,628,791 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 115,005,753 (GRCm39) |
I476V |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,710 (GRCm39) |
T403A |
possibly damaging |
Het |
| Klhl42 |
A |
G |
6: 146,993,538 (GRCm39) |
K170R |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
| Krt32 |
G |
T |
11: 99,972,050 (GRCm39) |
R433S |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,375,217 (GRCm39) |
T4461N |
probably damaging |
Het |
| Mapk10 |
A |
T |
5: 103,124,256 (GRCm39) |
M256K |
probably null |
Het |
| Mogat2 |
T |
C |
7: 98,872,905 (GRCm39) |
K93R |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,101,254 (GRCm39) |
V677L |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Oog4 |
G |
A |
4: 143,165,544 (GRCm39) |
T201M |
possibly damaging |
Het |
| Or4a70 |
C |
T |
2: 89,324,036 (GRCm39) |
G207R |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,975,621 (GRCm39) |
T649A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,555 (GRCm39) |
H2794L |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,744,913 (GRCm39) |
N509K |
probably damaging |
Het |
| Psme3ip1 |
G |
A |
8: 95,309,636 (GRCm39) |
L119F |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,722,700 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,543,055 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Scpppq1 |
G |
T |
5: 104,219,123 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
G |
T |
5: 141,984,598 (GRCm39) |
V728L |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,847,112 (GRCm39) |
D57G |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,169,650 (GRCm39) |
D425G |
probably benign |
Het |
| Slc17a5 |
C |
T |
9: 78,495,174 (GRCm39) |
A26T |
probably benign |
Het |
| Slc22a26 |
A |
T |
19: 7,760,509 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,009,146 (GRCm39) |
T447A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,172 (GRCm39) |
N81S |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,495,483 (GRCm39) |
|
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,145,417 (GRCm39) |
E610G |
possibly damaging |
Het |
| Tmem81 |
G |
T |
1: 132,435,301 (GRCm39) |
V36L |
possibly damaging |
Het |
| Trabd2b |
G |
T |
4: 114,467,194 (GRCm39) |
K474N |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,713,519 (GRCm39) |
F149L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,606,683 (GRCm39) |
Y18076H |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,516,764 (GRCm39) |
R2277C |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,652 (GRCm39) |
D549E |
probably damaging |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,138 (GRCm39) |
I156K |
probably benign |
Het |
| Wwc2 |
T |
G |
8: 48,316,955 (GRCm39) |
S713R |
unknown |
Het |
| Xndc1 |
C |
A |
7: 101,730,687 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
A |
G |
9: 22,201,833 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc22a30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Slc22a30
|
APN |
19 |
8,313,152 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01894:Slc22a30
|
APN |
19 |
8,364,021 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02795:Slc22a30
|
APN |
19 |
8,378,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02798:Slc22a30
|
APN |
19 |
8,347,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03267:Slc22a30
|
APN |
19 |
8,315,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0089:Slc22a30
|
UTSW |
19 |
8,347,561 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0243:Slc22a30
|
UTSW |
19 |
8,322,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1033:Slc22a30
|
UTSW |
19 |
8,313,165 (GRCm39) |
nonsense |
probably null |
|
|
R1781:Slc22a30
|
UTSW |
19 |
8,313,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Slc22a30
|
UTSW |
19 |
8,378,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Slc22a30
|
UTSW |
19 |
8,314,213 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4091:Slc22a30
|
UTSW |
19 |
8,381,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Slc22a30
|
UTSW |
19 |
8,321,768 (GRCm39) |
missense |
probably benign |
|
|
R5108:Slc22a30
|
UTSW |
19 |
8,363,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5192:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5193:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5195:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5253:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5254:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5255:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5256:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5378:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5400:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5401:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5481:Slc22a30
|
UTSW |
19 |
8,314,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5644:Slc22a30
|
UTSW |
19 |
8,381,980 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5679:Slc22a30
|
UTSW |
19 |
8,313,135 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5699:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5704:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5706:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5767:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5770:Slc22a30
|
UTSW |
19 |
8,363,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5784:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5793:Slc22a30
|
UTSW |
19 |
8,314,183 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5813:Slc22a30
|
UTSW |
19 |
8,381,945 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6101:Slc22a30
|
UTSW |
19 |
8,315,232 (GRCm39) |
splice site |
probably null |
|
|
R6105:Slc22a30
|
UTSW |
19 |
8,315,232 (GRCm39) |
splice site |
probably null |
|
|
R6327:Slc22a30
|
UTSW |
19 |
8,313,086 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6958:Slc22a30
|
UTSW |
19 |
8,364,065 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7162:Slc22a30
|
UTSW |
19 |
8,314,081 (GRCm39) |
splice site |
probably null |
|
|
R7572:Slc22a30
|
UTSW |
19 |
8,313,072 (GRCm39) |
missense |
unknown |
|
|
R7755:Slc22a30
|
UTSW |
19 |
8,314,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Slc22a30
|
UTSW |
19 |
8,381,904 (GRCm39) |
nonsense |
probably null |
|
|
R8248:Slc22a30
|
UTSW |
19 |
8,347,563 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8677:Slc22a30
|
UTSW |
19 |
8,364,035 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8854:Slc22a30
|
UTSW |
19 |
8,363,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8900:Slc22a30
|
UTSW |
19 |
8,315,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Slc22a30
|
UTSW |
19 |
8,321,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9296:Slc22a30
|
UTSW |
19 |
8,364,119 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9463:Slc22a30
|
UTSW |
19 |
8,378,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Slc22a30
|
UTSW |
19 |
8,321,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Slc22a30
|
UTSW |
19 |
8,313,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGTAGAAAGGAAGTTGCTCC -3'
(R):5'- GTTCCAATGGCCTTTCAGGAAC -3'
Sequencing Primer
(F):5'- AGGAAGTTGCTCCTGTCATACAC -3'
(R):5'- CTCCTGAATCAAGTTGGAAGCCTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation