Incidental Mutation 'R8854:Slc22a30'
| ID |
675206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
068676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 8363754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(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 null
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 benign
Transcript: ENSMUST00000120540
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
| 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 |
0.9373 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
G |
A |
19: 20,588,297 (GRCm39) |
W29* |
probably null |
Het |
| Ankib1 |
C |
A |
5: 3,777,489 (GRCm39) |
W467L |
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,029,798 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
C |
A |
5: 145,060,405 (GRCm39) |
R66S |
probably benign |
Het |
| Atoh1 |
A |
T |
6: 64,706,189 (GRCm39) |
|
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,575,263 (GRCm39) |
D619E |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,490,060 (GRCm39) |
I277T |
probably damaging |
Het |
| Cadps2 |
G |
A |
6: 23,385,507 (GRCm39) |
P772S |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,905,480 (GRCm39) |
D171V |
probably damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,518,638 (GRCm38) |
S273T |
probably damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,852 (GRCm39) |
A588T |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,200,048 (GRCm39) |
K399E |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,406,327 (GRCm39) |
S98P |
probably benign |
Het |
| Cryzl2 |
A |
G |
1: 157,286,370 (GRCm39) |
K36R |
possibly damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,104,861 (GRCm39) |
L11P |
unknown |
Het |
| Dbf4 |
T |
A |
5: 8,458,562 (GRCm39) |
D151V |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,108,359 (GRCm39) |
C227* |
probably null |
Het |
| Fermt3 |
T |
A |
19: 6,991,310 (GRCm39) |
D231V |
probably damaging |
Het |
| Il2rb |
T |
C |
15: 78,369,953 (GRCm39) |
T229A |
probably benign |
Het |
| Ildr1 |
T |
A |
16: 36,535,910 (GRCm39) |
Y142N |
probably damaging |
Het |
| Kcnv2 |
A |
T |
19: 27,311,258 (GRCm39) |
T542S |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,743,948 (GRCm39) |
G1348E |
possibly damaging |
Het |
| Lancl1 |
C |
T |
1: 67,073,358 (GRCm39) |
E42K |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,378,968 (GRCm39) |
D4010V |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,258,369 (GRCm39) |
V640A |
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,352,469 (GRCm39) |
T1276M |
probably damaging |
Het |
| Meioc |
T |
C |
11: 102,566,589 (GRCm39) |
M735T |
probably damaging |
Het |
| Mfsd4b5 |
C |
A |
10: 39,846,735 (GRCm39) |
V282L |
probably damaging |
Het |
| Mlx |
T |
A |
11: 100,981,951 (GRCm39) |
V286E |
|
Het |
| Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,139,412 (GRCm39) |
P604L |
probably damaging |
Het |
| Net1 |
G |
T |
13: 3,934,214 (GRCm39) |
D548E |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,769 (GRCm38) |
S342P |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,584,950 (GRCm39) |
K516E |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,210 (GRCm39) |
I2405N |
probably damaging |
Het |
| Nkx2-1 |
A |
T |
12: 56,580,206 (GRCm39) |
C245S |
probably benign |
Het |
| Or52ab7 |
T |
C |
7: 102,978,023 (GRCm39) |
I110T |
probably damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,936 (GRCm39) |
I74L |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,326 (GRCm39) |
Y1117C |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,865,501 (GRCm39) |
T432I |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,909,362 (GRCm39) |
L24* |
probably null |
Het |
| Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
| Sass6 |
C |
A |
3: 116,399,384 (GRCm39) |
Q93K |
possibly damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,887,308 (GRCm39) |
N177S |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,526,968 (GRCm39) |
H217R |
probably benign |
Het |
| Spata31d1c |
C |
A |
13: 65,183,804 (GRCm39) |
Q449K |
possibly damaging |
Het |
| Spidr |
A |
G |
16: 15,707,630 (GRCm39) |
V889A |
probably damaging |
Het |
| Suclg2 |
A |
T |
6: 95,572,650 (GRCm39) |
V105D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,078,503 (GRCm39) |
M974K |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,566,691 (GRCm39) |
D605E |
probably benign |
Het |
| Tcn2 |
A |
G |
11: 3,876,074 (GRCm39) |
F118S |
possibly damaging |
Het |
| Tcstv2b |
T |
A |
13: 120,377,825 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,367,238 (GRCm39) |
H208R |
probably benign |
Het |
| Trf |
A |
G |
9: 103,107,529 (GRCm39) |
|
probably benign |
Het |
| Trpc4 |
A |
T |
3: 54,102,122 (GRCm39) |
K7* |
probably null |
Het |
| Uap1 |
G |
T |
1: 169,976,984 (GRCm39) |
P405Q |
probably damaging |
Het |
| Usp33 |
C |
A |
3: 152,073,967 (GRCm39) |
T271N |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,702,632 (GRCm39) |
D663G |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,144,126 (GRCm39) |
D608G |
probably benign |
Het |
| Wfdc16 |
G |
A |
2: 164,480,486 (GRCm39) |
P3L |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,397,938 (GRCm39) |
I791T |
probably benign |
Het |
| Zfp970 |
A |
T |
2: 177,165,088 (GRCm39) |
T5S |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,501 (GRCm39) |
H421Q |
possibly 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 |
|
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 |
|
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'- AAGTTTAGGCAGAATTCAGTTCCC -3'
(R):5'- TGACCCTCAAATCCCTTTCAAG -3'
Sequencing Primer
(F):5'- AGGCAGAATTCAGTTCCCTCAGTC -3'
(R):5'- CCTCAAATCCCTTTCAAGTCAATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation