Incidental Mutation 'R1086:Slc18b1'
ID |
85034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc18b1
|
Ensembl Gene |
ENSMUSG00000037455 |
Gene Name |
solute carrier family 18, subfamily B, member 1 |
Synonyms |
1110021L09Rik |
MMRRC Submission |
039172-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R1086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
23672884-23703866 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23679693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 74
(M74T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119597]
[ENSMUST00000133289]
[ENSMUST00000134170]
[ENSMUST00000179321]
|
AlphaFold |
D3Z5L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119597
AA Change: M74T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000112634 Gene: ENSMUSG00000037455 AA Change: M74T
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: M92T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000121289 Gene: ENSMUSG00000037455 AA Change: M92T
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: M74T
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000116940 Gene: ENSMUSG00000037455 AA Change: M74T
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: M74T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000137431 Gene: ENSMUSG00000037455 AA Change: M74T
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 |
|
Meta Mutation Damage Score |
0.1350 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
Validation Efficiency |
100% (53/53) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGTTCCGAGGAAGCTGCTACG -3'
(R):5'- GTACACTGTCCAGAGGCATGGAAG -3'
Sequencing Primer
(F):5'- TGATGTTCCGACGTCATCCT -3'
(R):5'- TGGAAGGGACTAAAATCAACCAC -3'
|
Posted On |
2013-11-18 |