Incidental Mutation 'IGL02430:Slc6a20b'
| ID |
293102 |
| 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 # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123422888-123461603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123426305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 527
(Y527H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026270]
[ENSMUST00000026273]
[ENSMUST00000166800]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026270
|
| SMART Domains |
Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
58 |
346 |
4.7e-88 |
PFAM |
|
low complexity region
|
400 |
415 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
416 |
500 |
3e-12 |
BLAST |
|
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
transmembrane domain
|
550 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026273
AA Change: Y527H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: Y527H
| 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: ENSMUST00000166800
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc6a20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation