Incidental Mutation 'R5193:Slc22a30'
| ID |
399909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
042769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,677,226 (GRCm39) |
*56R |
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,216,898 (GRCm39) |
A156T |
probably benign |
Het |
| Bpifc |
T |
C |
10: 85,836,497 (GRCm39) |
T3A |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,715,278 (GRCm39) |
I269L |
probably benign |
Het |
| Cd151 |
A |
G |
7: 141,050,606 (GRCm39) |
Y253C |
probably damaging |
Het |
| Cenpl |
C |
A |
1: 160,911,037 (GRCm39) |
S328* |
probably null |
Het |
| Cfl1 |
T |
A |
19: 5,542,580 (GRCm39) |
V20D |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,400 (GRCm39) |
L74P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,132 (GRCm39) |
D196V |
probably damaging |
Het |
| Cst13 |
C |
A |
2: 148,670,143 (GRCm39) |
C104* |
probably null |
Het |
| Det1 |
A |
G |
7: 78,493,302 (GRCm39) |
V234A |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,673,162 (GRCm39) |
M165T |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,051,573 (GRCm39) |
K339* |
probably null |
Het |
| Fnta |
A |
T |
8: 26,501,246 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,813,338 (GRCm39) |
Y3219F |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,916,832 (GRCm39) |
V313M |
possibly damaging |
Het |
| Hars1 |
A |
G |
18: 36,900,358 (GRCm39) |
L448S |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,260,345 (GRCm39) |
I1166T |
possibly damaging |
Het |
| Il31ra |
T |
C |
13: 112,660,864 (GRCm39) |
E602G |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,344,282 (GRCm39) |
L123P |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,395,175 (GRCm39) |
D489G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,754,357 (GRCm39) |
S631I |
unknown |
Het |
| Lancl1 |
T |
A |
1: 67,060,173 (GRCm39) |
Y84F |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,570,969 (GRCm39) |
D54G |
probably damaging |
Het |
| Mafa |
G |
T |
15: 75,619,666 (GRCm39) |
P36T |
unknown |
Het |
| Magi2 |
G |
A |
5: 20,563,970 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,492,134 (GRCm39) |
I396F |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,942 (GRCm39) |
F61L |
probably damaging |
Het |
| Or10g1b |
A |
G |
14: 52,628,069 (GRCm39) |
W54R |
probably benign |
Het |
| Or1e16 |
TAGCGGTCGTA |
T |
11: 73,286,479 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or51a7 |
T |
A |
7: 102,615,143 (GRCm39) |
F279I |
possibly damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,448 (GRCm39) |
D296E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,542,174 (GRCm39) |
T806S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,465 (GRCm39) |
I149T |
possibly damaging |
Het |
| Pou5f2 |
C |
A |
13: 78,173,083 (GRCm39) |
N8K |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,300,129 (GRCm39) |
|
probably benign |
Het |
| Prl3d2 |
T |
A |
13: 27,306,312 (GRCm39) |
M13K |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,479,297 (GRCm39) |
N619D |
probably benign |
Het |
| Rnps1 |
G |
A |
17: 24,637,517 (GRCm39) |
S53N |
probably benign |
Het |
| Scaf8 |
C |
G |
17: 3,240,440 (GRCm39) |
A604G |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,721 (GRCm39) |
N1716S |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,845 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,141,194 (GRCm39) |
D6102G |
probably damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,049,646 (GRCm39) |
D283E |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,026 (GRCm39) |
D1350G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,946,141 (GRCm39) |
Y997H |
possibly damaging |
Het |
| Tyro3 |
T |
C |
2: 119,640,998 (GRCm39) |
L494P |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,272,281 (GRCm39) |
Q803K |
probably benign |
Het |
| Vgll2 |
T |
A |
10: 51,904,088 (GRCm39) |
L317Q |
possibly damaging |
Het |
| Wdr62 |
A |
T |
7: 29,964,592 (GRCm39) |
I384N |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,021,678 (GRCm39) |
R619* |
probably null |
Het |
| Xkr6 |
A |
G |
14: 64,056,356 (GRCm39) |
D89G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTTGATTAACAACCCAACTGGC -3'
(R):5'- CTGGTTCTCATGTCCCTGAG -3'
Sequencing Primer
(F):5'- GGCATACATAGTACATACAGTTAGTC -3'
(R):5'- CCTCAAGGTAAGGAAAGAGT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation