Incidental Mutation 'IGL03228:Slc6a20b'
| ID |
413788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a20b
|
| Ensembl Gene |
ENSMUSG00000025243 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 20B |
| Synonyms |
XT3, Slc6a20, Sit1, Xtrp3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123422888-123461603 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 123461197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 65
(Y65*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026273]
[ENSMUST00000040960]
[ENSMUST00000166800]
[ENSMUST00000171647]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026273
AA Change: Y76*
|
| SMART Domains |
Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: Y76*
| 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 benign
Transcript: ENSMUST00000040960
|
| SMART Domains |
Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
581 |
1.7e-177 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163397
AA Change: Y50*
|
| SMART Domains |
Protein: ENSMUSP00000127422
Gene: ENSMUSG00000025243
AA Change: Y50*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
23 |
59 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164734
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166800
AA Change: Y76*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168824
AA Change: Y65*
|
| SMART Domains |
Protein: ENSMUSP00000129307
Gene: ENSMUSG00000025243
AA Change: Y65*
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171647
|
| SMART Domains |
Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
196 |
3.3e-72 |
PFAM |
|
Pfam:SNF
|
194 |
544 |
8.4e-85 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid3a |
G |
A |
10: 79,786,578 (GRCm39) |
V444I |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,650 (GRCm39) |
Y1021C |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,691,631 (GRCm39) |
|
probably benign |
Het |
| Cdk15 |
G |
T |
1: 59,297,912 (GRCm39) |
K106N |
possibly damaging |
Het |
| Itpkb |
A |
T |
1: 180,241,564 (GRCm39) |
R745W |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,117,708 (GRCm39) |
I682F |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,763 (GRCm39) |
E435V |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,494,817 (GRCm39) |
Y296F |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 55,999,408 (GRCm39) |
N10Y |
probably damaging |
Het |
| Mmrn1 |
C |
T |
6: 60,921,876 (GRCm39) |
P111L |
probably benign |
Het |
| Nt5c |
A |
G |
11: 115,381,987 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or2m12 |
A |
C |
16: 19,105,140 (GRCm39) |
L118V |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,330 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,050 (GRCm39) |
F251L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,186,133 (GRCm39) |
S1679C |
probably damaging |
Het |
| Plac8l1 |
T |
A |
18: 42,325,672 (GRCm39) |
S78C |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,485,942 (GRCm39) |
I549N |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Stx11 |
G |
A |
10: 12,816,956 (GRCm39) |
T256M |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,026,686 (GRCm39) |
C3505R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,006 (GRCm39) |
L148P |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,156,909 (GRCm39) |
N2311K |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,249 (GRCm39) |
H268R |
probably 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 |
|
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 |
|
R1072:Slc6a20b
|
UTSW |
9 |
123,427,524 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation