Incidental Mutation 'IGL02660:Slc18b1'
| ID |
302525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc18b1
|
| Ensembl Gene |
ENSMUSG00000037455 |
| Gene Name |
solute carrier family 18, subfamily B, member 1 |
| Synonyms |
1110021L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
23672884-23703866 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 23686850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119597]
[ENSMUST00000134170]
[ENSMUST00000179321]
|
| AlphaFold |
D3Z5L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119597
|
| SMART Domains |
Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
32 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
40 |
254 |
3.2e-26 |
PFAM |
|
Pfam:MFS_1
|
237 |
454 |
7.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127841
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134170
|
| SMART Domains |
Protein: ENSMUSP00000116940
Gene: ENSMUSG00000037455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
32 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
40 |
129 |
1.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179321
|
| SMART Domains |
Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
32 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
40 |
262 |
2.4e-26 |
PFAM |
|
Pfam:LacY_symp
|
226 |
454 |
3.9e-8 |
PFAM |
|
Pfam:MFS_1
|
241 |
456 |
4.9e-23 |
PFAM |
|
Pfam:MFS_2
|
253 |
458 |
3.7e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
| Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
| C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
| Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
| Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
| H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
| Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
probably damaging |
Het |
|
| Other mutations in Slc18b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Slc18b1
|
APN |
10 |
23,700,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01474:Slc18b1
|
APN |
10 |
23,679,748 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01788:Slc18b1
|
APN |
10 |
23,701,899 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03049:Slc18b1
|
APN |
10 |
23,698,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03106:Slc18b1
|
APN |
10 |
23,702,557 (GRCm39) |
makesense |
probably null |
|
|
R0440:Slc18b1
|
UTSW |
10 |
23,694,976 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0633:Slc18b1
|
UTSW |
10 |
23,681,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1086:Slc18b1
|
UTSW |
10 |
23,679,693 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1572:Slc18b1
|
UTSW |
10 |
23,674,639 (GRCm39) |
splice site |
probably benign |
|
|
R1842:Slc18b1
|
UTSW |
10 |
23,681,891 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2256:Slc18b1
|
UTSW |
10 |
23,686,820 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3423:Slc18b1
|
UTSW |
10 |
23,698,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3424:Slc18b1
|
UTSW |
10 |
23,698,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3425:Slc18b1
|
UTSW |
10 |
23,698,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3765:Slc18b1
|
UTSW |
10 |
23,674,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3766:Slc18b1
|
UTSW |
10 |
23,674,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4063:Slc18b1
|
UTSW |
10 |
23,681,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4779:Slc18b1
|
UTSW |
10 |
23,696,767 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5714:Slc18b1
|
UTSW |
10 |
23,674,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5910:Slc18b1
|
UTSW |
10 |
23,700,565 (GRCm39) |
intron |
probably benign |
|
|
R6084:Slc18b1
|
UTSW |
10 |
23,680,110 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6789:Slc18b1
|
UTSW |
10 |
23,692,227 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6868:Slc18b1
|
UTSW |
10 |
23,680,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6959:Slc18b1
|
UTSW |
10 |
23,701,942 (GRCm39) |
splice site |
probably null |
|
|
R7632:Slc18b1
|
UTSW |
10 |
23,702,080 (GRCm39) |
missense |
probably benign |
|
|
R8101:Slc18b1
|
UTSW |
10 |
23,698,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Slc18b1
|
UTSW |
10 |
23,692,198 (GRCm39) |
synonymous |
silent |
|
|
R8838:Slc18b1
|
UTSW |
10 |
23,696,764 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8868:Slc18b1
|
UTSW |
10 |
23,686,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9112:Slc18b1
|
UTSW |
10 |
23,692,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation