Incidental Mutation 'R2077:Slc6a19'
ID |
229235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a19
|
Ensembl Gene |
ENSMUSG00000021565 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 19 |
Synonyms |
B<0>AT1, 4632401C08Rik |
MMRRC Submission |
040082-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R2077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73848685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 23
(V23A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022048]
[ENSMUST00000124406]
|
AlphaFold |
Q9D687 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022048
AA Change: V23A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022048 Gene: ENSMUSG00000021565 AA Change: V23A
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 benign
Transcript: ENSMUST00000124406
AA Change: V23A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119313 Gene: ENSMUSG00000021565 AA Change: V23A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
probably 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATCCATCCATGTCCTTGG -3'
(R):5'- TTGAGGTGCCAAAGGTTCTC -3'
Sequencing Primer
(F):5'- AGGAGTGCTATAGCTTCCACC -3'
(R):5'- GGTGCCAAAGGTTCTCTATAAAG -3'
|
Posted On |
2014-09-17 |