Incidental Mutation 'R4126:Slc6a20a'
ID |
315409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a20a
|
Ensembl Gene |
ENSMUSG00000036814 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 20A |
Synonyms |
Xtrp3s1, A730081N20Rik |
MMRRC Submission |
041634-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4126 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
123465972-123507897 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 123489598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 148
(F148L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040960]
[ENSMUST00000170591]
[ENSMUST00000171647]
|
AlphaFold |
Q8VDB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040960
AA Change: F148L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047690 Gene: ENSMUSG00000036814 AA Change: F148L
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
5 |
581 |
1.7e-177 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170591
AA Change: F93L
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132700 Gene: ENSMUSG00000036814 AA Change: F93L
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
37 |
5.1e-13 |
PFAM |
Pfam:SNF
|
33 |
241 |
3.5e-77 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171647
AA Change: F148L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129107 Gene: ENSMUSG00000036814 AA Change: F148L
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
5 |
196 |
3.3e-72 |
PFAM |
Pfam:SNF
|
194 |
544 |
8.4e-85 |
PFAM |
|
Meta Mutation Damage Score |
0.7296 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
89% (33/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
A |
8: 60,984,703 (GRCm39) |
W249R |
probably benign |
Het |
Ank |
G |
A |
15: 27,590,459 (GRCm39) |
V348I |
probably benign |
Het |
Atad3a |
A |
T |
4: 155,838,518 (GRCm39) |
|
probably benign |
Het |
Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
Cdk5rap1 |
A |
G |
2: 154,210,815 (GRCm39) |
C108R |
probably damaging |
Het |
Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,309,413 (GRCm39) |
A1614D |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
E2f8 |
T |
C |
7: 48,525,355 (GRCm39) |
I206V |
probably damaging |
Het |
Glyat |
G |
T |
19: 12,628,843 (GRCm39) |
V213F |
probably benign |
Het |
Gpatch1 |
C |
T |
7: 34,993,079 (GRCm39) |
|
probably null |
Het |
Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
Kcnc1 |
T |
C |
7: 46,047,426 (GRCm39) |
Y109H |
probably damaging |
Het |
Kif12 |
C |
T |
4: 63,084,674 (GRCm39) |
S548N |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
Naalad2 |
T |
C |
9: 18,258,766 (GRCm39) |
Y503C |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
Or8k25 |
A |
T |
2: 86,243,568 (GRCm39) |
I276N |
probably damaging |
Het |
Parp8 |
C |
A |
13: 117,005,005 (GRCm39) |
K685N |
possibly damaging |
Het |
Prr14l |
G |
T |
5: 32,985,347 (GRCm39) |
H1383N |
probably damaging |
Het |
Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
Spag11b |
T |
C |
8: 19,191,395 (GRCm39) |
S23P |
possibly damaging |
Het |
Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
Taf11 |
T |
C |
17: 28,120,746 (GRCm39) |
K175E |
possibly damaging |
Het |
Tll1 |
T |
C |
8: 64,571,048 (GRCm39) |
R175G |
possibly damaging |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Usp4 |
T |
C |
9: 108,237,316 (GRCm39) |
V128A |
probably benign |
Het |
Zfp788 |
T |
C |
7: 41,298,860 (GRCm39) |
F479L |
probably damaging |
Het |
Zmiz1 |
T |
G |
14: 25,657,354 (GRCm39) |
S877A |
possibly damaging |
Het |
|
Other mutations in Slc6a20a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02097:Slc6a20a
|
APN |
9 |
123,489,684 (GRCm39) |
missense |
possibly damaging |
0.95 |
eyeful
|
UTSW |
9 |
123,466,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Slc6a20a
|
UTSW |
9 |
123,507,823 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0255:Slc6a20a
|
UTSW |
9 |
123,493,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R0512:Slc6a20a
|
UTSW |
9 |
123,489,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R1744:Slc6a20a
|
UTSW |
9 |
123,492,058 (GRCm39) |
missense |
probably benign |
0.01 |
R1751:Slc6a20a
|
UTSW |
9 |
123,466,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Slc6a20a
|
UTSW |
9 |
123,466,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Slc6a20a
|
UTSW |
9 |
123,485,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1983:Slc6a20a
|
UTSW |
9 |
123,469,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R2391:Slc6a20a
|
UTSW |
9 |
123,493,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R3107:Slc6a20a
|
UTSW |
9 |
123,470,773 (GRCm39) |
critical splice donor site |
probably null |
|
R3547:Slc6a20a
|
UTSW |
9 |
123,489,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R3760:Slc6a20a
|
UTSW |
9 |
123,492,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R5584:Slc6a20a
|
UTSW |
9 |
123,469,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R5881:Slc6a20a
|
UTSW |
9 |
123,470,773 (GRCm39) |
critical splice donor site |
probably null |
|
R6749:Slc6a20a
|
UTSW |
9 |
123,466,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Slc6a20a
|
UTSW |
9 |
123,485,289 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7687:Slc6a20a
|
UTSW |
9 |
123,485,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Slc6a20a
|
UTSW |
9 |
123,493,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Slc6a20a
|
UTSW |
9 |
123,466,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8019:Slc6a20a
|
UTSW |
9 |
123,493,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R8019:Slc6a20a
|
UTSW |
9 |
123,466,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8023:Slc6a20a
|
UTSW |
9 |
123,489,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8145:Slc6a20a
|
UTSW |
9 |
123,466,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9082:Slc6a20a
|
UTSW |
9 |
123,507,832 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9130:Slc6a20a
|
UTSW |
9 |
123,469,631 (GRCm39) |
critical splice donor site |
probably null |
|
R9131:Slc6a20a
|
UTSW |
9 |
123,466,063 (GRCm39) |
makesense |
probably null |
|
R9249:Slc6a20a
|
UTSW |
9 |
123,507,941 (GRCm39) |
unclassified |
probably benign |
|
R9394:Slc6a20a
|
UTSW |
9 |
123,507,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R9701:Slc6a20a
|
UTSW |
9 |
123,489,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTCTGAAGTACAAGAGACAG -3'
(R):5'- GCTATCAAAGCCACTTCCTAGC -3'
Sequencing Primer
(F):5'- CTTGACCAGTGTTAAGATGCTACTC -3'
(R):5'- TAGCATCCTACCCAGACCTTG -3'
|
Posted On |
2015-05-14 |