Incidental Mutation 'R9463:Slc22a30'
| ID |
715031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8378259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 139
(C139Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
[ENSMUST00000120540]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064507
AA Change: C139Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: C139Y
| 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: C139Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: C139Y
| 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: C139Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: C139Y
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
C |
T |
14: 8,256,789 (GRCm38) |
E25K |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,392,032 (GRCm39) |
Y218C |
probably benign |
Het |
| Armc8 |
C |
T |
9: 99,378,203 (GRCm39) |
|
probably null |
Het |
| Aspg |
G |
A |
12: 112,089,824 (GRCm39) |
G454D |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,809,051 (GRCm39) |
T623A |
|
Het |
| Cacna1e |
A |
G |
1: 154,357,411 (GRCm39) |
L655P |
probably damaging |
Het |
| Cant1 |
T |
A |
11: 118,302,281 (GRCm39) |
N12I |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,475,382 (GRCm39) |
T445A |
probably benign |
Het |
| Clstn1 |
A |
T |
4: 149,698,564 (GRCm39) |
D50V |
possibly damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,076 (GRCm39) |
M1609V |
unknown |
Het |
| Dand5 |
A |
T |
8: 85,542,938 (GRCm39) |
C179* |
probably null |
Het |
| Dbndd1 |
A |
G |
8: 124,233,547 (GRCm39) |
L153P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,306,454 (GRCm39) |
I437V |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,344,223 (GRCm39) |
S1856T |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,973,700 (GRCm39) |
Y641* |
probably null |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Efl1 |
C |
T |
7: 82,426,733 (GRCm39) |
T1077M |
probably damaging |
Het |
| Eif3e |
G |
T |
15: 43,138,709 (GRCm39) |
Q83K |
probably benign |
Het |
| Firrm |
A |
T |
1: 163,795,907 (GRCm39) |
M428K |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,286,910 (GRCm39) |
A170T |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Gmip |
G |
A |
8: 70,269,693 (GRCm39) |
R596Q |
possibly damaging |
Het |
| Hook1 |
A |
T |
4: 95,910,510 (GRCm39) |
Q708L |
probably damaging |
Het |
| Krtap9-3 |
G |
A |
11: 99,488,526 (GRCm39) |
R119C |
unknown |
Het |
| Lnpk |
A |
C |
2: 74,381,403 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
G |
T |
10: 127,429,334 (GRCm39) |
Y484* |
probably null |
Het |
| Lrrc8e |
C |
T |
8: 4,285,185 (GRCm39) |
P470L |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,606,960 (GRCm39) |
N231D |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,405,503 (GRCm39) |
N937K |
unknown |
Het |
| Ndufaf7 |
T |
C |
17: 79,253,900 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,118,225 (GRCm39) |
I650F |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,845 (GRCm39) |
D1290G |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,320 (GRCm39) |
A188V |
possibly damaging |
Het |
| Or8b46 |
T |
C |
9: 38,450,665 (GRCm39) |
I158T |
probably damaging |
Het |
| Orc4 |
C |
T |
2: 48,826,783 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
G |
4: 141,357,949 (GRCm39) |
V664A |
probably benign |
Het |
| Pom121l2 |
T |
G |
13: 22,168,402 (GRCm39) |
I891S |
probably benign |
Het |
| Prkcsh |
T |
C |
9: 21,923,982 (GRCm39) |
Y425H |
probably damaging |
Het |
| Prps1l1 |
A |
C |
12: 35,035,559 (GRCm39) |
T225P |
probably damaging |
Het |
| Prr18 |
T |
G |
17: 8,560,324 (GRCm39) |
V160G |
probably damaging |
Het |
| Psd2 |
T |
A |
18: 36,143,798 (GRCm39) |
F701L |
probably damaging |
Het |
| Sclt1 |
T |
C |
3: 41,601,931 (GRCm39) |
E593G |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,548 (GRCm39) |
I631T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,171,487 (GRCm39) |
D231E |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,624,974 (GRCm39) |
N274I |
probably damaging |
Het |
| Spocd1 |
A |
G |
4: 129,847,398 (GRCm39) |
Q529R |
|
Het |
| Trarg1 |
T |
A |
11: 76,571,098 (GRCm39) |
L38Q |
probably damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,530 (GRCm39) |
L40H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,761,264 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,578,519 (GRCm39) |
Y24125H |
probably damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,056 (GRCm39) |
L379F |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
| Wee1 |
T |
C |
7: 109,721,917 (GRCm39) |
S121P |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,274 (GRCm39) |
K1222R |
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 |
|
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 |
|
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'- GGTTCAATGGCAGAACTAGAAC -3'
(R):5'- GCTGCAGAGAGTTAAATGGAGTTTC -3'
Sequencing Primer
(F):5'- GGCAGAACTAGAACACTATAATGTAC -3'
(R):5'- AATGGAGTTTCTTAGAGAAAGGTAAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation