Incidental Mutation 'IGL03038:Slc6a20b'
| ID |
408797 |
| 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 # |
IGL03038
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123422888-123461603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123426394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 497
(N497S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026273
AA Change: N497S
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: N497S
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
C |
7: 131,030,185 (GRCm39) |
Y111H |
probably damaging |
Het |
| Arhgef6 |
C |
T |
X: 56,290,966 (GRCm39) |
V262I |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,213,632 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,793,680 (GRCm39) |
E303G |
probably benign |
Het |
| Chst9 |
T |
C |
18: 15,628,360 (GRCm39) |
Q55R |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,888,839 (GRCm39) |
D1153E |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,063,602 (GRCm39) |
E681G |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,805 (GRCm39) |
E66G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,615,658 (GRCm39) |
T69A |
probably benign |
Het |
| Foxl1 |
A |
C |
8: 121,855,158 (GRCm39) |
E153A |
probably damaging |
Het |
| Gstm3 |
T |
C |
3: 107,873,485 (GRCm39) |
D162G |
possibly damaging |
Het |
| Gtpbp3 |
G |
A |
8: 71,941,947 (GRCm39) |
V96I |
possibly damaging |
Het |
| Insig2 |
G |
A |
1: 121,247,403 (GRCm39) |
T56I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,926,314 (GRCm39) |
L264P |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,552,307 (GRCm39) |
C420G |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,305,808 (GRCm39) |
G2918S |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,629,358 (GRCm39) |
L568P |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,132,778 (GRCm39) |
D1900N |
unknown |
Het |
| Mastl |
C |
A |
2: 23,030,627 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
G |
11: 98,607,010 (GRCm39) |
T276P |
possibly damaging |
Het |
| Naip1 |
A |
C |
13: 100,573,841 (GRCm39) |
Y239* |
probably null |
Het |
| Nhsl2 |
A |
G |
X: 101,122,491 (GRCm39) |
K765E |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,588 (GRCm39) |
N4S |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,767,703 (GRCm39) |
D188G |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,406,790 (GRCm39) |
T89A |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,718,290 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,947,650 (GRCm39) |
A509V |
probably damaging |
Het |
| Pou2f2 |
C |
T |
7: 24,796,577 (GRCm39) |
S315N |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,571 (GRCm39) |
S906R |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,580 (GRCm39) |
Q300K |
probably benign |
Het |
| Prox2 |
T |
C |
12: 85,142,038 (GRCm39) |
D55G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,498,465 (GRCm39) |
T3612S |
possibly damaging |
Het |
| S1pr1 |
T |
A |
3: 115,506,343 (GRCm39) |
I84L |
possibly damaging |
Het |
| Slc47a1 |
C |
T |
11: 61,243,918 (GRCm39) |
V384M |
probably benign |
Het |
| Spen |
C |
A |
4: 141,265,550 (GRCm39) |
R3L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,042,786 (GRCm39) |
F444S |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,624,035 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,581,120 (GRCm39) |
L586P |
possibly damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,185 (GRCm39) |
|
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation