Incidental Mutation 'R5784:Slc22a30'
| ID |
447942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
043381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 8321757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 436
(Q436*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
[ENSMUST00000120540]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
| 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 null
Transcript: ENSMUST00000120540
AA Change: Q436*
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: Q436*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,441 (GRCm39) |
R292G |
possibly damaging |
Het |
| 4932416K20Rik |
T |
A |
8: 105,524,261 (GRCm39) |
|
noncoding transcript |
Het |
| Aox3 |
A |
G |
1: 58,192,658 (GRCm39) |
D544G |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,311,535 (GRCm39) |
A1830D |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,299,337 (GRCm39) |
I22T |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,859,671 (GRCm39) |
L990W |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,180,577 (GRCm39) |
T125A |
probably damaging |
Het |
| Cnep1r1 |
T |
A |
8: 88,857,354 (GRCm39) |
|
probably benign |
Het |
| Dhx38 |
G |
T |
8: 110,286,245 (GRCm39) |
Y348* |
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,563,228 (GRCm39) |
I593L |
possibly damaging |
Het |
| Dpep3 |
T |
C |
8: 106,705,375 (GRCm39) |
D125G |
probably benign |
Het |
| Eif1ad10 |
T |
A |
12: 88,216,525 (GRCm39) |
N116Y |
probably damaging |
Het |
| Epb41l4b |
A |
C |
4: 57,086,003 (GRCm39) |
S191A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,016 (GRCm39) |
Y1033C |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,623,567 (GRCm39) |
L32P |
probably damaging |
Het |
| Grin2c |
T |
C |
11: 115,149,121 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hdhd2 |
A |
T |
18: 77,054,841 (GRCm39) |
D205V |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,561,307 (GRCm39) |
N774K |
unknown |
Het |
| Idh3b |
A |
G |
2: 130,121,591 (GRCm39) |
V71A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,352,964 (GRCm39) |
M818V |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,915,513 (GRCm39) |
V162A |
probably damaging |
Het |
| Ltk |
G |
A |
2: 119,584,840 (GRCm39) |
Q136* |
probably null |
Het |
| Mafb |
A |
T |
2: 160,208,461 (GRCm39) |
C46S |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,367,002 (GRCm39) |
S636P |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,717,391 (GRCm39) |
K209E |
possibly damaging |
Het |
| Mppe1 |
T |
C |
18: 67,361,098 (GRCm39) |
N220D |
probably benign |
Het |
| Mydgf |
T |
C |
17: 56,485,254 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,190,521 (GRCm39) |
K999E |
possibly damaging |
Het |
| Nemp1 |
T |
A |
10: 127,513,067 (GRCm39) |
V34D |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
| Or10x4 |
G |
A |
1: 174,218,965 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,743 (GRCm39) |
N193D |
probably damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,710 (GRCm39) |
H88Q |
probably benign |
Het |
| Papln |
A |
G |
12: 83,828,754 (GRCm39) |
N820S |
probably benign |
Het |
| Pcdh10 |
T |
G |
3: 45,335,075 (GRCm39) |
F463C |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Radil |
G |
T |
5: 142,473,268 (GRCm39) |
H804Q |
possibly damaging |
Het |
| Rbfox1 |
A |
T |
16: 7,042,203 (GRCm39) |
D39V |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,399,383 (GRCm39) |
|
probably null |
Het |
| Rnf121 |
A |
G |
7: 101,684,583 (GRCm39) |
F110S |
probably benign |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Slc2a3 |
A |
T |
6: 122,712,376 (GRCm39) |
|
probably null |
Het |
| Traf2 |
A |
T |
2: 25,429,049 (GRCm39) |
V6E |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,729,696 (GRCm39) |
N379I |
probably benign |
Het |
| Ubr4 |
C |
G |
4: 139,152,529 (GRCm39) |
C1973W |
probably damaging |
Het |
| Unc13a |
G |
T |
8: 72,108,310 (GRCm39) |
D514E |
possibly damaging |
Het |
| Wdr27 |
T |
A |
17: 15,146,495 (GRCm39) |
T167S |
probably damaging |
Het |
| Zfp174 |
A |
T |
16: 3,672,438 (GRCm39) |
E329V |
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,771 (GRCm39) |
I76N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATTAACAACCCAACTGGCATAC -3'
(R):5'- CTGGTTCTCATGTCCCTGAG -3'
Sequencing Primer
(F):5'- GGCATACATAGTACATACAGTTAGTC -3'
(R):5'- CCTCAAGGTAAGGAAAGAGT -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation