Incidental Mutation 'R3760:Slc6a20a'
| ID |
270507 |
| 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 |
040740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123465972-123507897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123492054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 50
(I50T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040960]
[ENSMUST00000170591]
[ENSMUST00000171647]
|
| AlphaFold |
Q8VDB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040960
AA Change: I105T
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: I105T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
581 |
1.7e-177 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170591
AA Change: I50T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132700
Gene: ENSMUSG00000036814
AA Change: I50T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
37 |
5.1e-13 |
PFAM |
|
Pfam:SNF
|
33 |
241 |
3.5e-77 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171647
AA Change: I105T
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: I105T
| 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 |
0.5553 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (33/33) |
| 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 |
|---|
| Adgrl2 |
T |
C |
3: 148,522,871 (GRCm39) |
E1448G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ell2 |
A |
T |
13: 75,910,281 (GRCm39) |
Q163L |
probably benign |
Het |
| Epha6 |
T |
A |
16: 60,041,347 (GRCm39) |
T423S |
possibly damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Gpr83 |
A |
T |
9: 14,772,034 (GRCm39) |
T69S |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,818,154 (GRCm39) |
M342K |
probably damaging |
Het |
| H3c7 |
T |
C |
13: 23,728,985 (GRCm39) |
C111R |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,817,978 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 192,188,332 (GRCm39) |
L931P |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,478,077 (GRCm39) |
S470T |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,152,027 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,919,406 (GRCm39) |
L6213P |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,250 (GRCm39) |
L212P |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,488,232 (GRCm39) |
S190L |
possibly damaging |
Het |
| Pcnx4 |
C |
T |
12: 72,613,780 (GRCm39) |
T575M |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,100,595 (GRCm39) |
D348G |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,520,420 (GRCm39) |
N730S |
probably damaging |
Het |
| Serpinb3d |
C |
T |
1: 107,009,304 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,794,655 (GRCm39) |
T705A |
possibly damaging |
Het |
| Taf13 |
T |
C |
3: 108,485,424 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,599,700 (GRCm39) |
E562V |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,331 (GRCm39) |
S302P |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,058,964 (GRCm39) |
L1036Q |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,932 (GRCm39) |
S71T |
probably damaging |
Het |
| Vmn2r-ps158 |
G |
A |
7: 42,673,502 (GRCm39) |
E187K |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,179,162 (GRCm39) |
F200L |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,686 (GRCm39) |
H909R |
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 |
|
R4126:Slc6a20a
|
UTSW |
9 |
123,489,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACTGTGCACATACAGGTTCTG -3'
(R):5'- AGGTCATAGATGTAATGTCAGGTC -3'
Sequencing Primer
(F):5'- GTGCACATACAGGTTCTGATGTCC -3'
(R):5'- GATGTAATGTCAGGTCTAATGAAACC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation