Incidental Mutation 'IGL03267:Slc22a30'
| ID |
415097 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL03267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8315322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 436
(I436T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064507
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
| 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 benign
Transcript: ENSMUST00000096269
AA Change: I436T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: I436T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
C |
T |
5: 121,775,412 (GRCm39) |
R430Q |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,467,630 (GRCm39) |
I1857F |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,050 (GRCm39) |
M345L |
probably benign |
Het |
| Babam1 |
T |
G |
8: 71,855,708 (GRCm39) |
|
probably null |
Het |
| Bbs7 |
A |
G |
3: 36,627,654 (GRCm39) |
F711S |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,507,262 (GRCm39) |
E458G |
probably damaging |
Het |
| Car6 |
T |
C |
4: 150,280,503 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,713,724 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,845,930 (GRCm39) |
V3A |
possibly damaging |
Het |
| Ddc |
T |
C |
11: 11,826,303 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 138,990,599 (GRCm39) |
R188* |
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,008,545 (GRCm39) |
A2046S |
probably benign |
Het |
| Duxf4 |
T |
C |
10: 58,071,609 (GRCm39) |
T202A |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,350,003 (GRCm39) |
S20T |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,789,993 (GRCm39) |
C916* |
probably null |
Het |
| Fam78a |
T |
C |
2: 31,959,679 (GRCm39) |
I144V |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,943 (GRCm39) |
|
probably benign |
Het |
| Il9r |
T |
A |
11: 32,141,778 (GRCm39) |
H320L |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,896,543 (GRCm39) |
T135M |
probably damaging |
Het |
| Lca5l |
T |
A |
16: 95,960,983 (GRCm39) |
Q498L |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,971,457 (GRCm39) |
H70R |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,406,856 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
G |
T |
2: 36,760,513 (GRCm39) |
A312S |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,386,304 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,978 (GRCm39) |
Y259* |
probably null |
Het |
| Pik3cg |
C |
A |
12: 32,255,307 (GRCm39) |
G227C |
possibly damaging |
Het |
| Ptprn2 |
C |
T |
12: 116,839,964 (GRCm39) |
Q496* |
probably null |
Het |
| Rif1 |
T |
G |
2: 51,967,000 (GRCm39) |
N96K |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,116,169 (GRCm39) |
D1176A |
probably benign |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,816,202 (GRCm39) |
T610I |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,864,686 (GRCm39) |
C1950R |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,013,813 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
G |
A |
3: 100,852,120 (GRCm39) |
R1009* |
probably null |
Het |
| Wfdc16 |
A |
G |
2: 164,480,462 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zfp367 |
A |
G |
13: 64,292,097 (GRCm39) |
|
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,574,908 (GRCm39) |
R376H |
probably damaging |
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 |
|
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 |
|
|
R7375:Slc22a30
|
UTSW |
19 |
8,382,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation