Incidental Mutation 'R1072:Slc6a20b'
| ID |
85507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a20b
|
| Ensembl Gene |
ENSMUSG00000025243 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 20B |
| Synonyms |
XT3, Slc6a20, Sit1, Xtrp3 |
| MMRRC Submission |
039158-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1072 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123422888-123461603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123427524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 462
(T462A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026273]
[ENSMUST00000166800]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026273
AA Change: T462A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: T462A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
48 |
624 |
5.4e-173 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166800
AA Change: T462A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168824
|
| SMART Domains |
Protein: ENSMUSP00000129307
Gene: ENSMUSG00000025243
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
38 |
74 |
3.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171122
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,811,992 (GRCm39) |
F191Y |
probably benign |
Het |
| Ankrd55 |
G |
T |
13: 112,485,376 (GRCm39) |
A169S |
possibly damaging |
Het |
| Ano2 |
A |
G |
6: 126,016,287 (GRCm39) |
E940G |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,336,943 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Ccnf |
A |
T |
17: 24,456,136 (GRCm39) |
V283D |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Clec4b2 |
T |
C |
6: 123,181,233 (GRCm39) |
I206T |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,888,190 (GRCm39) |
V535A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,807,855 (GRCm39) |
D1779E |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,749,316 (GRCm39) |
N1154D |
probably damaging |
Het |
| Klra10 |
A |
T |
6: 130,258,811 (GRCm39) |
H25Q |
probably benign |
Het |
| Lpo |
A |
G |
11: 87,709,260 (GRCm39) |
S94P |
probably damaging |
Het |
| Mbd5 |
A |
T |
2: 49,147,203 (GRCm39) |
N471I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,199,490 (GRCm39) |
Y1366C |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,993,617 (GRCm39) |
I261T |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,143,860 (GRCm39) |
F75S |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,650,357 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
A |
G |
3: 136,640,888 (GRCm39) |
M480V |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,215,663 (GRCm39) |
M1367K |
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
C |
G |
14: 40,855,592 (GRCm39) |
|
probably null |
Het |
| Shank2 |
A |
T |
7: 143,965,305 (GRCm39) |
N1181I |
probably damaging |
Het |
| Spdye4c |
T |
C |
2: 128,438,557 (GRCm39) |
L305P |
probably benign |
Het |
| Th |
C |
A |
7: 142,448,225 (GRCm39) |
V275L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,733,721 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,460,914 (GRCm39) |
V2725A |
possibly damaging |
Het |
|
| Other mutations in Slc6a20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02430:Slc6a20b
|
APN |
9 |
123,426,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Slc6a20b
|
APN |
9 |
123,436,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03038:Slc6a20b
|
APN |
9 |
123,426,394 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03115:Slc6a20b
|
APN |
9 |
123,426,403 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03228:Slc6a20b
|
APN |
9 |
123,461,197 (GRCm39) |
nonsense |
probably null |
|
|
PIT4131001:Slc6a20b
|
UTSW |
9 |
123,612,126 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0653:Slc6a20b
|
UTSW |
9 |
123,426,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Slc6a20b
|
UTSW |
9 |
123,438,062 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1889:Slc6a20b
|
UTSW |
9 |
123,461,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2075:Slc6a20b
|
UTSW |
9 |
123,424,099 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2187:Slc6a20b
|
UTSW |
9 |
123,427,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Slc6a20b
|
UTSW |
9 |
123,441,822 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4762:Slc6a20b
|
UTSW |
9 |
123,427,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Slc6a20b
|
UTSW |
9 |
123,425,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4932:Slc6a20b
|
UTSW |
9 |
123,433,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Slc6a20b
|
UTSW |
9 |
123,427,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Slc6a20b
|
UTSW |
9 |
123,424,119 (GRCm39) |
missense |
probably benign |
|
|
R5307:Slc6a20b
|
UTSW |
9 |
123,432,899 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5721:Slc6a20b
|
UTSW |
9 |
123,441,054 (GRCm39) |
missense |
probably null |
1.00 |
|
R6108:Slc6a20b
|
UTSW |
9 |
123,425,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6285:Slc6a20b
|
UTSW |
9 |
123,438,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6463:Slc6a20b
|
UTSW |
9 |
123,434,014 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7050:Slc6a20b
|
UTSW |
9 |
123,427,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Slc6a20b
|
UTSW |
9 |
123,434,013 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7422:Slc6a20b
|
UTSW |
9 |
123,436,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7460:Slc6a20b
|
UTSW |
9 |
123,434,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7940:Slc6a20b
|
UTSW |
9 |
123,436,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Slc6a20b
|
UTSW |
9 |
123,438,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Slc6a20b
|
UTSW |
9 |
123,439,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Slc6a20b
|
UTSW |
9 |
123,427,407 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGACTCCTAGAGCCTGCTTC -3'
(R):5'- TTACTTCAGCCCAGGTCCTGACAC -3'
Sequencing Primer
(F):5'- CTAGAGCCTGCTTCTGGAGTTG -3'
(R):5'- GGTCCTGACACTGAACACATTTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation