Incidental Mutation 'R6789:Slc18b1'
| ID |
532940 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
23672884-23703866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23692227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 232
(V232D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119597]
[ENSMUST00000179321]
|
| AlphaFold |
D3Z5L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119597
AA Change: V232D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: V232D
| 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 |
unknown
Transcript: ENSMUST00000127841
AA Change: S34T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179321
AA Change: V234D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: V234D
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
| Arl6ip4 |
G |
A |
5: 124,254,665 (GRCm39) |
G53R |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,675,344 (GRCm39) |
T553A |
probably benign |
Het |
| Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
| Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
| Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
| Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
| Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
| Klra4 |
T |
C |
6: 130,039,182 (GRCm39) |
Q70R |
probably damaging |
Het |
| Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
| Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,151 (GRCm39) |
K87E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,865,677 (GRCm39) |
T8M |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
| Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
| Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
| Taf11 |
C |
A |
17: 28,126,492 (GRCm39) |
A52S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTCTAAAGATGAAGAGTTTGGAAG -3'
(R):5'- GTCTCCCTCCTTAGAACAGC -3'
Sequencing Primer
(F):5'- AGTTTGGAAGCTGATGTAGATGATAC -3'
(R):5'- GTGCTTACCTTCTCCATGA -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation