Incidental Mutation 'IGL01474:Slc18b1'
| ID |
88398 |
| 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: 0.063)
|
| Stock # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
23672884-23703866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23679748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 92
(K92N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119597]
[ENSMUST00000133289]
[ENSMUST00000134170]
[ENSMUST00000179321]
|
| AlphaFold |
D3Z5L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119597
AA Change: K92N
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: K92N
| 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: ENSMUST00000133289
AA Change: K110N
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121289
Gene: ENSMUSG00000037455
AA Change: K110N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
90 |
112 |
N/A |
INTRINSIC |
|
transmembrane domain
|
119 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134170
AA Change: K92N
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116940
Gene: ENSMUSG00000037455
AA Change: K92N
| 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
AA Change: K92N
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: K92N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
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 |
|
|
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 |
2013-11-18 |
Incidental Mutation