Incidental Mutation 'R7687:Slc6a20a'
| ID |
593157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a20a
|
| Ensembl Gene |
ENSMUSG00000036814 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 20A |
| Synonyms |
Xtrp3s1, A730081N20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123465972-123507897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123485331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 297
(I297T)
|
| 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: I297T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: I297T
| 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: I260T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: I260T
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,341 (GRCm39) |
K2383R |
probably benign |
Het |
| Acly |
C |
T |
11: 100,395,680 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,468,311 (GRCm39) |
I276F |
possibly damaging |
Het |
| Cdc14b |
A |
T |
13: 64,357,007 (GRCm39) |
D419E |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,305,085 (GRCm39) |
P2165T |
probably benign |
Het |
| Clk4 |
A |
G |
11: 51,172,225 (GRCm39) |
D476G |
probably benign |
Het |
| Dera |
A |
G |
6: 137,813,878 (GRCm39) |
T10A |
|
Het |
| Dip2c |
A |
T |
13: 9,654,617 (GRCm39) |
T742S |
probably benign |
Het |
| Dohh |
C |
A |
10: 81,223,640 (GRCm39) |
A231E |
probably benign |
Het |
| Dot1l |
T |
G |
10: 80,625,202 (GRCm39) |
S1150A |
possibly damaging |
Het |
| Eea1 |
T |
A |
10: 95,862,460 (GRCm39) |
I794N |
probably benign |
Het |
| En2 |
T |
C |
5: 28,375,287 (GRCm39) |
S277P |
probably damaging |
Het |
| Erich1 |
A |
G |
8: 14,080,691 (GRCm39) |
L276P |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,924,224 (GRCm38) |
N1779S |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,254,979 (GRCm39) |
T186S |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,348,257 (GRCm39) |
R347* |
probably null |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,883 (GRCm39) |
I17V |
not run |
Het |
| Ipo13 |
G |
A |
4: 117,769,088 (GRCm39) |
P235S |
probably benign |
Het |
| Itga2 |
C |
A |
13: 115,002,796 (GRCm39) |
G565C |
probably damaging |
Het |
| Kcnc4 |
CCCGCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGCCGCCGCCGC |
3: 107,365,925 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,401,355 (GRCm39) |
I440T |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,576,476 (GRCm39) |
K779N |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,760,001 (GRCm39) |
D1086N |
unknown |
Het |
| Kntc1 |
A |
G |
5: 123,897,152 (GRCm39) |
I172V |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,451,003 (GRCm39) |
E215G |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,943,607 (GRCm39) |
M417K |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,962,157 (GRCm39) |
V185A |
probably damaging |
Het |
| Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,857,227 (GRCm39) |
P980S |
probably benign |
Het |
| Or2aj5 |
T |
C |
16: 19,424,485 (GRCm39) |
N310S |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,355,506 (GRCm39) |
D675G |
probably damaging |
Het |
| Pdlim5 |
A |
G |
3: 141,983,608 (GRCm39) |
S382P |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,804,390 (GRCm39) |
I2184F |
|
Het |
| Plau |
A |
G |
14: 20,889,866 (GRCm39) |
Y237C |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,915,806 (GRCm39) |
T586A |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,551,901 (GRCm39) |
I923S |
possibly damaging |
Het |
| Rbfox2 |
C |
T |
15: 77,190,694 (GRCm39) |
G17D |
unknown |
Het |
| Sema3b |
T |
C |
9: 107,481,013 (GRCm39) |
D108G |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,128 (GRCm39) |
F261L |
probably benign |
Het |
| Tcp10a |
T |
A |
17: 7,612,507 (GRCm39) |
V433D |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,574,526 (GRCm39) |
Y109* |
probably null |
Het |
| Tmem79 |
A |
G |
3: 88,239,888 (GRCm39) |
V274A |
probably damaging |
Het |
| Tnfrsf23 |
G |
A |
7: 143,235,199 (GRCm39) |
S55L |
probably benign |
Het |
| Ubd |
T |
C |
17: 37,504,865 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
A |
5: 148,442,985 (GRCm39) |
R105L |
possibly damaging |
Het |
| Ubl7 |
A |
T |
9: 57,821,867 (GRCm39) |
D72V |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,076 (GRCm39) |
S81P |
probably damaging |
Het |
| Wtip |
T |
C |
7: 33,816,044 (GRCm39) |
Y344C |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zkscan2 |
A |
C |
7: 123,099,085 (GRCm39) |
S36A |
probably benign |
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 |
|
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'- CATTGTAGCTCCCAACAGTGG -3'
(R):5'- CCTACTGGCCTTCTAGATGGAAC -3'
Sequencing Primer
(F):5'- TTTCAGCTCAGAGCTCTG -3'
(R):5'- TGGAACAGCTAGCCAACCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation