Incidental Mutation 'R5584:Slc6a20a'
| ID |
438620 |
| 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 |
043138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5584 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123465972-123507897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123469753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 411
(F411S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040960]
[ENSMUST00000171647]
|
| AlphaFold |
Q8VDB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040960
AA Change: F448S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: F448S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
581 |
1.7e-177 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164734
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171647
AA Change: F411S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: F411S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
5 |
196 |
3.3e-72 |
PFAM |
|
Pfam:SNF
|
194 |
544 |
8.4e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216052
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,553,386 (GRCm39) |
G5496D |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,293,031 (GRCm39) |
Q262H |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,661,457 (GRCm39) |
T1070A |
possibly damaging |
Het |
| Efcab14 |
T |
C |
4: 115,621,794 (GRCm39) |
V358A |
possibly damaging |
Het |
| Epb41l4a |
G |
T |
18: 33,987,324 (GRCm39) |
T351N |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,406 (GRCm39) |
V237E |
possibly damaging |
Het |
| Ezh2 |
A |
T |
6: 47,508,950 (GRCm39) |
N684K |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,627 (GRCm39) |
T946A |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,229,574 (GRCm39) |
I125N |
probably damaging |
Het |
| Gcsam |
A |
C |
16: 45,440,226 (GRCm39) |
I90L |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,995,341 (GRCm39) |
I87N |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,313,593 (GRCm39) |
N1944K |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,281,632 (GRCm39) |
D3913G |
probably damaging |
Het |
| Ltb4r1 |
T |
A |
14: 56,004,844 (GRCm39) |
M49K |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,382,647 (GRCm39) |
I273T |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,550 (GRCm39) |
S384T |
probably damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,602 (GRCm39) |
I363S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,818 (GRCm39) |
D482E |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,286 (GRCm39) |
Y262C |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,678,366 (GRCm39) |
K284E |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,958,289 (GRCm39) |
N124S |
probably benign |
Het |
| Rbm46 |
C |
A |
3: 82,771,465 (GRCm39) |
M383I |
probably benign |
Het |
| Rfx1 |
G |
A |
8: 84,814,706 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,615,975 (GRCm39) |
V493A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,620,954 (GRCm39) |
V520A |
possibly damaging |
Het |
| Sis |
C |
G |
3: 72,817,748 (GRCm39) |
W1488C |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,651 (GRCm39) |
N405K |
probably damaging |
Het |
| Thnsl1 |
C |
T |
2: 21,218,223 (GRCm39) |
P138L |
probably damaging |
Het |
| Trim27 |
T |
A |
13: 21,376,719 (GRCm39) |
I489N |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,852,332 (GRCm39) |
V829I |
possibly damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,396 (GRCm39) |
D217G |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,843,623 (GRCm39) |
T272A |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,965,933 (GRCm39) |
N806I |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,236,218 (GRCm39) |
E164G |
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 |
|
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'- TTTATGAGTGTGACCCCGC -3'
(R):5'- ATCCTTCCTGGGATTGGGTCTC -3'
Sequencing Primer
(F):5'- GCGGCTTAGCTACTCCATG -3'
(R):5'- TGCAGCCCAGTTGTATATTCTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation