Incidental Mutation 'R5793:Slc22a30'
ID |
447101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a30
|
Ensembl Gene |
ENSMUSG00000052562 |
Gene Name |
solute carrier family 22, member 30 |
Synonyms |
C730048C13Rik |
MMRRC Submission |
043208-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R5793 (G1)
|
Quality Score |
166 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8314183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 501
(Y501F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
|
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 |
possibly damaging
Transcript: ENSMUST00000096269
AA Change: Y501F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093988 Gene: ENSMUSG00000052562 AA Change: Y501F
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,255,094 (GRCm39) |
L33F |
probably benign |
Het |
Hsd11b1 |
A |
C |
1: 192,924,492 (GRCm39) |
F27V |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
Palb2 |
T |
C |
7: 121,726,860 (GRCm39) |
N337D |
probably benign |
Het |
Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 91,987,400 (GRCm39) |
S886P |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
Slitrk5 |
T |
A |
14: 111,917,345 (GRCm39) |
V323D |
probably damaging |
Het |
Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
Tmem132e |
T |
A |
11: 82,335,684 (GRCm39) |
I922N |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
probably benign |
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 |
|
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'- AGGGCCTCTAGGAACATTTGAATC -3'
(R):5'- AAGACACAAGTTTCAAGTGTGC -3'
Sequencing Primer
(F):5'- GCCTCTAGGAACATTTGAATCTACAG -3'
(R):5'- GTTTCAAGTGTGCATTTTTACCAG -3'
|
Posted On |
2016-12-15 |