Incidental Mutation 'IGL02401:Slc6a19'
ID |
291886 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc6a19
|
Ensembl Gene |
ENSMUSG00000021565 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 19 |
Synonyms |
B<0>AT1, 4632401C08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
IGL02401
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73848709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 15
(I15T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022048]
[ENSMUST00000124406]
|
AlphaFold |
Q9D687 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022048
AA Change: I15T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022048 Gene: ENSMUSG00000021565 AA Change: I15T
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
32 |
608 |
2.3e-180 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000022049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123997
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124406
AA Change: I15T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119313 Gene: ENSMUSG00000021565 AA Change: I15T
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
32 |
79 |
1.7e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160958
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and impaired amino acid absorption and excretion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef18 |
C |
T |
8: 3,487,078 (GRCm39) |
R266C |
probably damaging |
Het |
Asb11 |
A |
T |
X: 163,241,753 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
G |
A |
8: 96,482,761 (GRCm39) |
T764M |
possibly damaging |
Het |
Galns |
A |
G |
8: 123,331,938 (GRCm39) |
M59T |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
Gm9312 |
A |
C |
12: 24,302,106 (GRCm39) |
|
noncoding transcript |
Het |
Lama3 |
T |
C |
18: 12,690,784 (GRCm39) |
F1268S |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,643,585 (GRCm39) |
C1347R |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,042,650 (GRCm39) |
S352P |
probably benign |
Het |
Mcfd2 |
T |
C |
17: 87,564,592 (GRCm39) |
T97A |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,929,983 (GRCm39) |
N23S |
possibly damaging |
Het |
Nr1i3 |
A |
T |
1: 171,043,942 (GRCm39) |
|
probably benign |
Het |
Or4c10b |
T |
C |
2: 89,711,797 (GRCm39) |
F209S |
probably damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,651 (GRCm39) |
P26L |
probably damaging |
Het |
Orm2 |
A |
C |
4: 63,281,568 (GRCm39) |
I100L |
probably benign |
Het |
Pbsn |
A |
G |
X: 76,886,129 (GRCm39) |
M126T |
probably benign |
Het |
Rpgr |
G |
T |
X: 10,024,956 (GRCm39) |
T1026K |
possibly damaging |
Het |
Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,625,208 (GRCm39) |
Y217C |
probably damaging |
Het |
Slc17a8 |
A |
T |
10: 89,412,522 (GRCm39) |
|
probably null |
Het |
Smarcd3 |
A |
T |
5: 24,798,717 (GRCm39) |
V335E |
probably damaging |
Het |
Sugp2 |
A |
G |
8: 70,695,821 (GRCm39) |
T265A |
possibly damaging |
Het |
Tfrc |
T |
G |
16: 32,435,999 (GRCm39) |
S225R |
probably damaging |
Het |
Vsig10l |
T |
A |
7: 43,113,468 (GRCm39) |
L140Q |
probably damaging |
Het |
Zbtb46 |
T |
A |
2: 181,065,245 (GRCm39) |
T302S |
probably benign |
Het |
Znhit1 |
T |
C |
5: 137,011,513 (GRCm39) |
Y105C |
probably damaging |
Het |
|
Other mutations in Slc6a19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02425:Slc6a19
|
APN |
13 |
73,839,919 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03030:Slc6a19
|
APN |
13 |
73,848,590 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03067:Slc6a19
|
APN |
13 |
73,837,849 (GRCm39) |
nonsense |
probably null |
|
IGL03216:Slc6a19
|
APN |
13 |
73,834,300 (GRCm39) |
missense |
probably benign |
|
IGL03330:Slc6a19
|
APN |
13 |
73,837,679 (GRCm39) |
missense |
possibly damaging |
0.95 |
momentum
|
UTSW |
13 |
73,829,836 (GRCm39) |
missense |
probably damaging |
0.98 |
rifling
|
UTSW |
13 |
73,833,959 (GRCm39) |
nonsense |
probably null |
|
H8562:Slc6a19
|
UTSW |
13 |
73,848,243 (GRCm39) |
intron |
probably benign |
|
R0107:Slc6a19
|
UTSW |
13 |
73,832,176 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0446:Slc6a19
|
UTSW |
13 |
73,839,814 (GRCm39) |
missense |
probably benign |
0.01 |
R1422:Slc6a19
|
UTSW |
13 |
73,833,988 (GRCm39) |
missense |
probably benign |
0.05 |
R1443:Slc6a19
|
UTSW |
13 |
73,832,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1501:Slc6a19
|
UTSW |
13 |
73,832,167 (GRCm39) |
missense |
probably benign |
0.08 |
R1564:Slc6a19
|
UTSW |
13 |
73,834,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1632:Slc6a19
|
UTSW |
13 |
73,838,027 (GRCm39) |
splice site |
probably null |
|
R1832:Slc6a19
|
UTSW |
13 |
73,841,069 (GRCm39) |
missense |
probably benign |
|
R2077:Slc6a19
|
UTSW |
13 |
73,848,685 (GRCm39) |
missense |
probably benign |
|
R4418:Slc6a19
|
UTSW |
13 |
73,832,514 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4486:Slc6a19
|
UTSW |
13 |
73,829,836 (GRCm39) |
missense |
probably damaging |
0.98 |
R4510:Slc6a19
|
UTSW |
13 |
73,832,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Slc6a19
|
UTSW |
13 |
73,832,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Slc6a19
|
UTSW |
13 |
73,832,161 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4965:Slc6a19
|
UTSW |
13 |
73,848,677 (GRCm39) |
missense |
probably benign |
0.00 |
R4988:Slc6a19
|
UTSW |
13 |
73,833,959 (GRCm39) |
nonsense |
probably null |
|
R5085:Slc6a19
|
UTSW |
13 |
73,839,872 (GRCm39) |
missense |
probably benign |
0.11 |
R5533:Slc6a19
|
UTSW |
13 |
73,833,948 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5851:Slc6a19
|
UTSW |
13 |
73,839,859 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5874:Slc6a19
|
UTSW |
13 |
73,832,487 (GRCm39) |
missense |
probably damaging |
0.98 |
R6074:Slc6a19
|
UTSW |
13 |
73,837,882 (GRCm39) |
missense |
probably benign |
0.00 |
R6608:Slc6a19
|
UTSW |
13 |
73,832,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Slc6a19
|
UTSW |
13 |
73,834,197 (GRCm39) |
missense |
probably benign |
0.11 |
R7386:Slc6a19
|
UTSW |
13 |
73,838,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7388:Slc6a19
|
UTSW |
13 |
73,841,203 (GRCm39) |
missense |
probably benign |
0.30 |
R7393:Slc6a19
|
UTSW |
13 |
73,841,093 (GRCm39) |
missense |
probably benign |
0.00 |
R7832:Slc6a19
|
UTSW |
13 |
73,841,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R7900:Slc6a19
|
UTSW |
13 |
73,848,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R8220:Slc6a19
|
UTSW |
13 |
73,833,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R8713:Slc6a19
|
UTSW |
13 |
73,848,740 (GRCm39) |
missense |
probably benign |
0.19 |
R8977:Slc6a19
|
UTSW |
13 |
73,830,269 (GRCm39) |
missense |
probably benign |
|
R9457:Slc6a19
|
UTSW |
13 |
73,829,884 (GRCm39) |
missense |
probably damaging |
0.98 |
R9569:Slc6a19
|
UTSW |
13 |
73,834,030 (GRCm39) |
missense |
probably benign |
0.00 |
R9662:Slc6a19
|
UTSW |
13 |
73,839,822 (GRCm39) |
nonsense |
probably null |
|
Z1088:Slc6a19
|
UTSW |
13 |
73,837,849 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1177:Slc6a19
|
UTSW |
13 |
73,832,377 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2015-04-16 |