Incidental Mutation 'R9394:Slc6a20a'
| ID |
710749 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123465972-123507897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123507805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 23
(V23L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040960]
[ENSMUST00000163559]
[ENSMUST00000170591]
[ENSMUST00000171647]
|
| AlphaFold |
Q8VDB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040960
AA Change: V23L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: V23L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
581 |
1.7e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163559
|
| SMART Domains |
Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
332 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
65 |
317 |
3.4e-52 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000132700
Gene: ENSMUSG00000036814
AA Change: V15L
| 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: V23L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: V23L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
196 |
3.3e-72 |
PFAM |
|
Pfam:SNF
|
194 |
544 |
8.4e-85 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,135,225 (GRCm39) |
D78G |
|
Het |
| Adgrv1 |
A |
G |
13: 81,624,767 (GRCm39) |
V3734A |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,466,187 (GRCm39) |
E1106D |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,145,006 (GRCm39) |
Y639C |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,676,469 (GRCm39) |
V119I |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cfap52 |
A |
G |
11: 67,815,921 (GRCm39) |
*621R |
probably null |
Het |
| Dis3l |
T |
C |
9: 64,225,017 (GRCm39) |
I427V |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,661,354 (GRCm39) |
V1751I |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,156,550 (GRCm39) |
F432L |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,883,536 (GRCm39) |
N1110S |
probably benign |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,792 (GRCm39) |
M1K |
probably null |
Het |
| Igkv3-1 |
T |
A |
6: 70,680,953 (GRCm39) |
Y51N |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,724,217 (GRCm39) |
I600K |
probably benign |
Het |
| Madd |
G |
A |
2: 91,000,199 (GRCm39) |
T569M |
probably benign |
Het |
| Mapk7 |
A |
T |
11: 61,381,858 (GRCm39) |
H351Q |
probably damaging |
Het |
| Met |
A |
C |
6: 17,513,395 (GRCm39) |
Y415S |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,555,239 (GRCm39) |
V151D |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,549,390 (GRCm39) |
D1267G |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,570 (GRCm39) |
V253A |
probably damaging |
Het |
| Or2l13 |
A |
C |
16: 19,306,421 (GRCm39) |
T278P |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,226,019 (GRCm39) |
V249A |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,094 (GRCm39) |
I206V |
probably benign |
Het |
| Osbpl8 |
C |
T |
10: 111,127,375 (GRCm39) |
R820* |
probably null |
Het |
| Oxsr1 |
C |
A |
9: 119,151,134 (GRCm39) |
E3* |
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,623,862 (GRCm39) |
D1035G |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 16,981,053 (GRCm39) |
T70I |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,291,698 (GRCm39) |
L235S |
probably damaging |
Het |
| Rasal1 |
A |
C |
5: 120,816,746 (GRCm39) |
S761R |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,213,831 (GRCm39) |
N609S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,511,856 (GRCm39) |
S566G |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,942,905 (GRCm39) |
H611R |
probably damaging |
Het |
| Rpl35rt |
T |
C |
1: 156,193,793 (GRCm39) |
V49A |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,324,682 (GRCm39) |
N1382I |
probably damaging |
Het |
| Sgcb |
T |
C |
5: 73,801,653 (GRCm39) |
I71V |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,270,712 (GRCm39) |
W585R |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,132,715 (GRCm39) |
T403A |
probably benign |
Het |
| Trpm1 |
G |
T |
7: 63,918,480 (GRCm39) |
A1491S |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,707,058 (GRCm39) |
D9044E |
unknown |
Het |
| Ube3a |
A |
T |
7: 58,921,960 (GRCm39) |
K111* |
probably null |
Het |
| Wee2 |
A |
G |
6: 40,433,878 (GRCm39) |
H264R |
probably damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,791,826 (GRCm39) |
I316F |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,254,600 (GRCm39) |
E1398G |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,810,993 (GRCm39) |
P57T |
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 |
|
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 |
|
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 |
|
|
R9701:Slc6a20a
|
UTSW |
9 |
123,489,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACTTGAAGCGCGTGG -3'
(R):5'- AACATGATCCTTTCCCCGAG -3'
Sequencing Primer
(F):5'- TGGGACCGAACACTTGGC -3'
(R):5'- TCTGAAGTCCACACGCAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation