Incidental Mutation 'R3423:Slc18b1'
| ID |
267121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc18b1
|
| Ensembl Gene |
ENSMUSG00000037455 |
| Gene Name |
solute carrier family 18, subfamily B, member 1 |
| Synonyms |
1110021L09Rik |
| MMRRC Submission |
040641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
23672884-23703866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23698874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 348
(M348R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119597]
[ENSMUST00000179321]
|
| AlphaFold |
D3Z5L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119597
AA Change: M348R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: M348R
| 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 |
noncoding transcript
Transcript: ENSMUST00000143931
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179321
AA Change: M350R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: M350R
| 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 |
0.7218 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
| Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
| Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
| Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
| Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
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 |
|
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'- GCCCGCCTCATATTTAAGTTTGTG -3'
(R):5'- TCACAGCATCTTGTCACTATGC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TGCTATCACAGGATGATCTCG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation