Incidental Mutation 'IGL00539:Slc18b1'
| ID |
6119 |
| 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 # |
IGL00539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
23672884-23703866 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 23700659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119597]
[ENSMUST00000119597]
[ENSMUST00000119597]
[ENSMUST00000179321]
|
| AlphaFold |
D3Z5L6 |
| Predicted Effect |
probably null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000143931
|
| Predicted Effect |
probably null
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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
A |
19: 8,985,272 (GRCm39) |
D2185E |
possibly damaging |
Het |
| Camk2b |
A |
G |
11: 5,922,310 (GRCm39) |
S560P |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,039,245 (GRCm39) |
N562K |
possibly damaging |
Het |
| Cdhr4 |
A |
G |
9: 107,876,744 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ermap |
A |
G |
4: 119,041,114 (GRCm39) |
S299P |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,429,119 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,188 (GRCm39) |
L65Q |
probably damaging |
Het |
| Hsph1 |
C |
T |
5: 149,542,254 (GRCm39) |
R723H |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,678,873 (GRCm39) |
K396E |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,821,504 (GRCm39) |
T1424A |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,279,588 (GRCm39) |
S700G |
possibly damaging |
Het |
| Mta3 |
G |
A |
17: 84,070,412 (GRCm39) |
R39Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,728 (GRCm39) |
T263S |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,567,921 (GRCm39) |
P64S |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,219 (GRCm39) |
H660R |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,880,931 (GRCm39) |
T753A |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,627,817 (GRCm39) |
Q93* |
probably null |
Het |
| Sfpq |
T |
C |
4: 126,917,481 (GRCm39) |
V437A |
possibly damaging |
Het |
| Taf1c |
C |
T |
8: 120,328,067 (GRCm39) |
V277I |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,736,957 (GRCm39) |
Q1498L |
probably benign |
Het |
| Tet1 |
C |
A |
10: 62,650,276 (GRCm39) |
C1644F |
probably damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,693 (GRCm39) |
E121G |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,416,965 (GRCm39) |
D525G |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,075,728 (GRCm39) |
T360A |
possibly damaging |
Het |
| Zfp292 |
G |
A |
4: 34,808,790 (GRCm39) |
P1418L |
probably damaging |
Het |
|
| Other mutations in Slc18b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02660:Slc18b1
|
APN |
10 |
23,686,850 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation