Incidental Mutation 'R4097:Slc6a20b'
| ID |
317174 |
| 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 |
040984-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123422888-123461603 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 123441822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026273]
[ENSMUST00000166800]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026273
|
| SMART Domains |
Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
| 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: ENSMUST00000163397
|
| SMART Domains |
Protein: ENSMUSP00000127422
Gene: ENSMUSG00000025243
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
23 |
59 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164241
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,348,228 (GRCm39) |
F292L |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,578,703 (GRCm39) |
D664G |
possibly damaging |
Het |
| Bbs1 |
T |
A |
19: 4,947,345 (GRCm39) |
Y358F |
probably damaging |
Het |
| Becn1 |
C |
T |
11: 101,185,092 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,647,265 (GRCm39) |
N47I |
possibly damaging |
Het |
| Clec4n |
A |
T |
6: 123,207,700 (GRCm39) |
H55L |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,478,939 (GRCm39) |
I222V |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,420,871 (GRCm39) |
E370G |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,386,480 (GRCm39) |
V413E |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,362 (GRCm39) |
L249F |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,881,285 (GRCm39) |
S146G |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,778,852 (GRCm39) |
L315* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,003 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,328,953 (GRCm39) |
V775A |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,054,787 (GRCm39) |
E69G |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,765,047 (GRCm39) |
R665S |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,253,937 (GRCm39) |
H1065L |
probably damaging |
Het |
| Nrf1 |
C |
T |
6: 30,151,671 (GRCm39) |
Q503* |
probably null |
Het |
| Nt5dc3 |
G |
A |
10: 86,669,820 (GRCm39) |
A472T |
probably benign |
Het |
| Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
| Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
| Pramel6 |
T |
G |
2: 87,339,697 (GRCm39) |
F154V |
probably benign |
Het |
| Ralb |
T |
C |
1: 119,411,228 (GRCm39) |
D37G |
probably benign |
Het |
| Ranbp9 |
A |
T |
13: 43,574,733 (GRCm39) |
Y412N |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,538 (GRCm39) |
D395V |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpine3 |
T |
A |
14: 62,908,395 (GRCm39) |
L141Q |
probably damaging |
Het |
| Sgpl1 |
C |
T |
10: 60,939,017 (GRCm39) |
G394D |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,412,951 (GRCm39) |
Y44C |
probably damaging |
Het |
| Snapc5 |
T |
C |
9: 64,087,809 (GRCm39) |
I40T |
probably damaging |
Het |
| Spopl |
T |
C |
2: 23,401,413 (GRCm39) |
H365R |
probably benign |
Het |
| Stil |
T |
A |
4: 114,880,797 (GRCm39) |
I447N |
probably benign |
Het |
| Taf3 |
C |
A |
2: 9,957,178 (GRCm39) |
V330F |
possibly damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,784 (GRCm39) |
E232G |
probably damaging |
Het |
| Thrap3 |
A |
G |
4: 126,065,595 (GRCm39) |
L729P |
probably damaging |
Het |
| Tmem269 |
A |
T |
4: 119,062,977 (GRCm39) |
F220Y |
probably damaging |
Het |
| Tnrc18 |
ATCTTCC |
A |
5: 142,759,561 (GRCm39) |
|
probably benign |
Het |
| Ubxn6 |
T |
C |
17: 56,376,712 (GRCm39) |
T227A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,088,504 (GRCm39) |
R1182I |
probably damaging |
Het |
| Wdr26 |
T |
C |
1: 181,010,352 (GRCm39) |
I550V |
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,964,532 (GRCm39) |
N637S |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,381 (GRCm39) |
T762A |
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 |
|
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 |
|
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'- AGCAACTTGGGTGTCACTCTC -3'
(R):5'- TTTGCTAAGCCACTAAACTCTCTG -3'
Sequencing Primer
(F):5'- GAGGACAACTTTTCAAAGCTGGCTC -3'
(R):5'- ACTCTCTGAAGATAGTCAGGCCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation