Incidental Mutation 'BB012:Slc6a17'
| ID |
642691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a17
|
| Ensembl Gene |
ENSMUSG00000027894 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 17 |
| Synonyms |
NTT4, D130012J15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
BB012
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107374864-107425334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107403056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 124
(I124V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029499]
[ENSMUST00000166892]
[ENSMUST00000168211]
[ENSMUST00000169449]
|
| AlphaFold |
Q8BJI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029499
AA Change: I124V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: I124V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
640 |
2.7e-227 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166892
|
| SMART Domains |
Protein: ENSMUSP00000129588
Gene: ENSMUSG00000027894
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
116 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168211
AA Change: I83V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
19 |
602 |
1.3e-225 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169449
AA Change: I124V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: I124V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
643 |
1.1e-225 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. Defects in this gene are a cause of autosomal recessive mental retardation-48. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
| 4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
| A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
| Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
| Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,562,723 (GRCm39) |
H228Q |
probably benign |
Het |
| Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
| Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
| Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
| Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
| Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
| Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
| Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
| Itgbl1 |
G |
A |
14: 124,210,735 (GRCm39) |
D478N |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
| Lrrc66 |
A |
T |
5: 73,765,835 (GRCm39) |
C403S |
possibly damaging |
Het |
| Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
| Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
| Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
| Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
| Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
| Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
| Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
| Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
| Pgls |
T |
C |
8: 72,044,996 (GRCm39) |
S46P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
| Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
| Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
| Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
| Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
| Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
| Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
| Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
| Ube3c |
T |
A |
5: 29,851,429 (GRCm39) |
I752N |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,990 (GRCm39) |
M962V |
probably benign |
Het |
|
| Other mutations in Slc6a17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02432:Slc6a17
|
APN |
3 |
107,400,493 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02514:Slc6a17
|
APN |
3 |
107,402,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03395:Slc6a17
|
APN |
3 |
107,384,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Slc6a17
|
UTSW |
3 |
107,403,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Slc6a17
|
UTSW |
3 |
107,384,183 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1201:Slc6a17
|
UTSW |
3 |
107,400,388 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1551:Slc6a17
|
UTSW |
3 |
107,379,443 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1681:Slc6a17
|
UTSW |
3 |
107,381,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Slc6a17
|
UTSW |
3 |
107,379,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Slc6a17
|
UTSW |
3 |
107,380,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1867:Slc6a17
|
UTSW |
3 |
107,379,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Slc6a17
|
UTSW |
3 |
107,398,817 (GRCm39) |
nonsense |
probably null |
|
|
R3708:Slc6a17
|
UTSW |
3 |
107,400,401 (GRCm39) |
missense |
probably benign |
|
|
R3814:Slc6a17
|
UTSW |
3 |
107,378,633 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4639:Slc6a17
|
UTSW |
3 |
107,381,597 (GRCm39) |
missense |
probably benign |
|
|
R4807:Slc6a17
|
UTSW |
3 |
107,407,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5048:Slc6a17
|
UTSW |
3 |
107,378,753 (GRCm39) |
nonsense |
probably null |
|
|
R6076:Slc6a17
|
UTSW |
3 |
107,379,387 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6326:Slc6a17
|
UTSW |
3 |
107,407,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6713:Slc6a17
|
UTSW |
3 |
107,378,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Slc6a17
|
UTSW |
3 |
107,378,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7097:Slc6a17
|
UTSW |
3 |
107,400,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Slc6a17
|
UTSW |
3 |
107,398,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7597:Slc6a17
|
UTSW |
3 |
107,378,668 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7755:Slc6a17
|
UTSW |
3 |
107,381,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Slc6a17
|
UTSW |
3 |
107,384,214 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7925:Slc6a17
|
UTSW |
3 |
107,403,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Slc6a17
|
UTSW |
3 |
107,381,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Slc6a17
|
UTSW |
3 |
107,380,901 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8306:Slc6a17
|
UTSW |
3 |
107,380,985 (GRCm39) |
missense |
probably benign |
|
|
R8488:Slc6a17
|
UTSW |
3 |
107,384,574 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8930:Slc6a17
|
UTSW |
3 |
107,379,507 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8932:Slc6a17
|
UTSW |
3 |
107,379,507 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9287:Slc6a17
|
UTSW |
3 |
107,384,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Slc6a17
|
UTSW |
3 |
107,378,772 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9601:Slc6a17
|
UTSW |
3 |
107,380,930 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9617:Slc6a17
|
UTSW |
3 |
107,384,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Slc6a17
|
UTSW |
3 |
107,400,422 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0062:Slc6a17
|
UTSW |
3 |
107,407,684 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:Slc6a17
|
UTSW |
3 |
107,384,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTGTGGCCTATAAACCTG -3'
(R):5'- GTGGTATATGGCTCCCACAC -3'
Sequencing Primer
(F):5'- GTGGCCTATAAACCTGATGATGTCC -3'
(R):5'- GTGCGCACACTAAGGTTAAGACC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation