Incidental Mutation 'R2391:Slc6a20a'
| ID |
247767 |
| 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 |
040359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2391 (G1)
|
| Quality Score |
165 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123465972-123507897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123493686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 65
(V65E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040960]
[ENSMUST00000170591]
[ENSMUST00000171647]
|
| AlphaFold |
Q8VDB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040960
AA Change: V65E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: V65E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
581 |
1.7e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170591
|
| SMART Domains |
Protein: ENSMUSP00000132700
Gene: ENSMUSG00000036814
| 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: V65E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: V65E
| 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 |
0.8284 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
A |
7: 115,703,461 (GRCm39) |
D24E |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,952,071 (GRCm39) |
H689R |
probably benign |
Het |
| Acss3 |
T |
G |
10: 106,959,348 (GRCm39) |
T33P |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,898 (GRCm39) |
Y124* |
probably null |
Het |
| Capn2 |
T |
C |
1: 182,306,174 (GRCm39) |
D524G |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,590,965 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,043,212 (GRCm39) |
Q438K |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,484 (GRCm39) |
V15E |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,416,214 (GRCm39) |
M1047V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,708,198 (GRCm39) |
I1306N |
probably damaging |
Het |
| Emp2 |
A |
T |
16: 10,102,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Gm2888 |
A |
T |
14: 3,037,656 (GRCm38) |
D216V |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,607,489 (GRCm39) |
H287L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,810,041 (GRCm39) |
S107P |
probably benign |
Het |
| Or10q3 |
G |
T |
19: 11,848,180 (GRCm39) |
Y133* |
probably null |
Het |
| Or51e2 |
C |
A |
7: 102,391,581 (GRCm39) |
V210F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,664 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn2 |
A |
T |
18: 67,808,959 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,534,799 (GRCm39) |
D290G |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,450,504 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Spon1 |
C |
T |
7: 113,486,080 (GRCm39) |
T210M |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,512,061 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
C |
A |
6: 42,377,810 (GRCm39) |
H213Q |
probably damaging |
Het |
| Terf1 |
C |
A |
1: 15,875,963 (GRCm39) |
S21* |
probably null |
Het |
| Trim12a |
T |
C |
7: 103,956,138 (GRCm39) |
E134G |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,751 (GRCm39) |
Y45C |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,966,770 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,884,764 (GRCm39) |
M46K |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,300,413 (GRCm39) |
S230P |
probably 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 |
|
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 |
|
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'- CTCTGTCTAAGTTCCATGGCAGC -3'
(R):5'- GTCTGCATGGGGAAAGTCAG -3'
Sequencing Primer
(F):5'- CTGCCAAGCTGTCAGTCCAG -3'
(R):5'- TCAGGTGATAGAAGCACAGTTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation