Incidental Mutation 'IGL03067:Slc6a19'
ID |
409729 |
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: 0.085)
|
Stock # |
IGL03067
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 73837849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 217
(E217*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022048]
[ENSMUST00000124406]
|
AlphaFold |
Q9D687 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022048
AA Change: E217*
|
SMART Domains |
Protein: ENSMUSP00000022048 Gene: ENSMUSG00000021565 AA Change: E217*
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
32 |
608 |
2.3e-180 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123997
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124406
|
SMART Domains |
Protein: ENSMUSP00000119313 Gene: ENSMUSG00000021565
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: ENSMUST00000139087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140878
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
T |
11: 119,900,909 (GRCm39) |
D1162E |
probably benign |
Het |
Abhd2 |
T |
C |
7: 79,009,782 (GRCm39) |
F386L |
probably benign |
Het |
Adamts6 |
C |
T |
13: 104,433,783 (GRCm39) |
R71W |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,590,599 (GRCm39) |
Y4403C |
probably damaging |
Het |
Aldoart1 |
A |
T |
4: 72,770,194 (GRCm39) |
C205S |
possibly damaging |
Het |
Ap2a1 |
C |
A |
7: 44,552,935 (GRCm39) |
A711S |
probably benign |
Het |
Arhgef28 |
A |
G |
13: 98,124,794 (GRCm39) |
I496T |
probably benign |
Het |
Cyp27a1 |
A |
G |
1: 74,771,068 (GRCm39) |
|
probably null |
Het |
Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
Dpy19l1 |
A |
G |
9: 24,349,956 (GRCm39) |
V428A |
probably benign |
Het |
Foxk2 |
C |
T |
11: 121,176,394 (GRCm39) |
T180M |
possibly damaging |
Het |
Gm3402 |
C |
A |
5: 146,451,399 (GRCm39) |
H86N |
possibly damaging |
Het |
Gm3543 |
A |
G |
14: 41,802,830 (GRCm39) |
|
probably benign |
Het |
Gnai3 |
T |
C |
3: 108,025,609 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,236,642 (GRCm39) |
P395L |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,226,339 (GRCm39) |
I2445V |
probably benign |
Het |
Il10ra |
T |
C |
9: 45,167,157 (GRCm39) |
T465A |
probably benign |
Het |
Itpr2 |
G |
A |
6: 146,226,680 (GRCm39) |
L1322F |
probably damaging |
Het |
Man1b1 |
T |
C |
2: 25,239,344 (GRCm39) |
Y536H |
probably benign |
Het |
P3h1 |
A |
G |
4: 119,092,477 (GRCm39) |
H170R |
probably damaging |
Het |
Pakap |
A |
T |
4: 57,648,038 (GRCm39) |
T59S |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,676,878 (GRCm39) |
V1030A |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,388,628 (GRCm39) |
|
probably null |
Het |
Pilra |
T |
C |
5: 137,821,843 (GRCm39) |
Y264C |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,067,910 (GRCm39) |
V1799A |
possibly damaging |
Het |
Rap1gap2 |
A |
G |
11: 74,284,238 (GRCm39) |
S649P |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,159,413 (GRCm39) |
M426V |
probably damaging |
Het |
Rpl9 |
A |
G |
5: 65,548,191 (GRCm39) |
I18T |
possibly damaging |
Het |
Smtn |
C |
A |
11: 3,480,165 (GRCm39) |
R352L |
possibly damaging |
Het |
Supv3l1 |
C |
A |
10: 62,265,600 (GRCm39) |
D647Y |
probably damaging |
Het |
Sv2a |
A |
G |
3: 96,092,498 (GRCm39) |
Y66C |
probably damaging |
Het |
Upk1b |
A |
G |
16: 38,605,272 (GRCm39) |
I107T |
probably damaging |
Het |
Yif1a |
T |
C |
19: 5,139,813 (GRCm39) |
V86A |
possibly damaging |
Het |
Zfp820 |
T |
C |
17: 22,038,801 (GRCm39) |
T176A |
possibly damaging |
Het |
|
Other mutations in Slc6a19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02401:Slc6a19
|
APN |
13 |
73,848,709 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |