Incidental Mutation 'R1033:Slc22a30'
| ID |
95348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
039132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1033 (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 8313165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 436
(Q436*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064507
AA Change: Q436*
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: Q436*
| 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: A540V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: A540V
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,116,005 (GRCm39) |
D1036A |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,650,270 (GRCm39) |
S497P |
probably benign |
Het |
| Arhgap10 |
T |
A |
8: 77,983,976 (GRCm39) |
I700L |
possibly damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,555 (GRCm39) |
Y377C |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,849 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
A |
11: 119,229,196 (GRCm39) |
V702D |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,077 (GRCm39) |
R32* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,012,783 (GRCm39) |
D372V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,675,311 (GRCm39) |
I2870N |
probably benign |
Het |
| Cped1 |
G |
T |
6: 22,016,950 (GRCm39) |
V100F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,869,679 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,242,922 (GRCm39) |
G45D |
probably damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,440 (GRCm39) |
N286I |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,062,236 (GRCm39) |
C97S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,421,786 (GRCm39) |
H2062L |
probably benign |
Het |
| Frk |
T |
C |
10: 34,484,454 (GRCm39) |
C476R |
probably damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,668 (GRCm39) |
T49A |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,147,322 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gpr141 |
C |
T |
13: 19,935,880 (GRCm39) |
M298I |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,142,958 (GRCm39) |
E369G |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,901,638 (GRCm39) |
V368A |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,713 (GRCm39) |
S458T |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,131,989 (GRCm39) |
D198V |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,484,929 (GRCm39) |
V72A |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,029,798 (GRCm39) |
M901V |
unknown |
Het |
| Mgam |
A |
T |
6: 40,657,558 (GRCm39) |
Y971F |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,857,510 (GRCm39) |
D1078V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,158,934 (GRCm39) |
R870H |
probably benign |
Het |
| Nek8 |
A |
T |
11: 78,062,111 (GRCm39) |
L71Q |
probably null |
Het |
| Nox4 |
T |
A |
7: 87,023,621 (GRCm39) |
D502E |
probably damaging |
Het |
| Nsmaf |
G |
A |
4: 6,438,054 (GRCm39) |
P73S |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,204,377 (GRCm39) |
A1421V |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,304,533 (GRCm39) |
F207L |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,179,492 (GRCm39) |
T7P |
probably damaging |
Het |
| Or3a1 |
A |
C |
11: 74,225,462 (GRCm39) |
N198K |
possibly damaging |
Het |
| Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,194 (GRCm39) |
I33T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,160,716 (GRCm39) |
Y326H |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,585,815 (GRCm39) |
L2451P |
probably damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,506,252 (GRCm39) |
S58F |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,875,762 (GRCm39) |
R892G |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,067,535 (GRCm39) |
S1333P |
probably benign |
Het |
| Rpl7 |
A |
G |
1: 16,172,728 (GRCm39) |
I197T |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,521,395 (GRCm39) |
Q81K |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,220 (GRCm39) |
H1979L |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,154,889 (GRCm39) |
V99M |
probably damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,721,466 (GRCm39) |
P1238L |
probably benign |
Het |
| Speer4a2 |
T |
C |
5: 26,294,125 (GRCm39) |
K18E |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,303 (GRCm39) |
R1305H |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,427,186 (GRCm39) |
G32S |
probably damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,580,060 (GRCm39) |
D279N |
probably damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,014 (GRCm39) |
D419G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACACCAGAGATGAAGTGCATCC -3'
(R):5'- AATCCCCTGGAACCAACGTGTAAAG -3'
Sequencing Primer
(F):5'- AGATGAAGTGCATCCTAGTAACC -3'
(R):5'- GGAACCAACGTGTAAAGTACTAAATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation