Incidental Mutation 'R5085:Slc6a19'
ID |
387389 |
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 |
042674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R5085 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73839872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 137
(M137V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022048]
[ENSMUST00000124406]
|
AlphaFold |
Q9D687 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022048
AA Change: M137V
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022048 Gene: ENSMUSG00000021565 AA Change: M137V
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
|
Meta Mutation Damage Score |
0.1045 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
92% (69/75) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,653,837 (GRCm39) |
K129* |
probably null |
Het |
Adamts6 |
A |
T |
13: 104,443,751 (GRCm39) |
D162V |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,597,714 (GRCm39) |
P1316T |
possibly damaging |
Het |
AU040320 |
A |
T |
4: 126,722,664 (GRCm39) |
N394I |
possibly damaging |
Het |
Cacng8 |
T |
C |
7: 3,464,096 (GRCm39) |
L416P |
possibly damaging |
Het |
Ccdc136 |
T |
A |
6: 29,419,313 (GRCm39) |
N944K |
probably damaging |
Het |
Clcn1 |
C |
T |
6: 42,290,814 (GRCm39) |
T896I |
probably benign |
Het |
Col16a1 |
A |
T |
4: 129,947,964 (GRCm39) |
Y228F |
probably damaging |
Het |
Cyfip1 |
A |
G |
7: 55,548,083 (GRCm39) |
D561G |
probably benign |
Het |
Ddr1 |
T |
A |
17: 35,993,667 (GRCm39) |
|
probably null |
Het |
Dedd2 |
A |
T |
7: 24,918,411 (GRCm39) |
L48Q |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dph3b-ps |
A |
G |
13: 106,683,558 (GRCm39) |
|
noncoding transcript |
Het |
Dppa3 |
T |
C |
6: 122,606,891 (GRCm39) |
F127S |
probably damaging |
Het |
Dpy19l4 |
C |
T |
4: 11,265,943 (GRCm39) |
|
probably null |
Het |
Flrt3 |
T |
C |
2: 140,502,177 (GRCm39) |
T484A |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,128,936 (GRCm39) |
E179G |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,200,282 (GRCm39) |
E76G |
probably benign |
Het |
Gm6421 |
G |
A |
13: 117,494,969 (GRCm39) |
|
noncoding transcript |
Het |
Grk5 |
T |
C |
19: 61,065,122 (GRCm39) |
V262A |
probably damaging |
Het |
Grp |
A |
G |
18: 66,013,230 (GRCm39) |
Q132R |
probably benign |
Het |
Hap1 |
A |
G |
11: 100,246,537 (GRCm39) |
F123L |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,986,445 (GRCm39) |
D532G |
probably damaging |
Het |
Igsf9b |
C |
A |
9: 27,228,733 (GRCm39) |
F164L |
probably benign |
Het |
Irag1 |
G |
T |
7: 110,470,700 (GRCm39) |
L672I |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kansl1 |
C |
T |
11: 104,315,168 (GRCm39) |
R290Q |
probably damaging |
Het |
Kifc2 |
T |
A |
15: 76,545,496 (GRCm39) |
L81Q |
probably damaging |
Het |
Klrc3 |
T |
C |
6: 129,616,538 (GRCm39) |
R160G |
probably damaging |
Het |
Mal |
A |
G |
2: 127,482,193 (GRCm39) |
M70T |
probably benign |
Het |
Mep1a |
T |
G |
17: 43,789,035 (GRCm39) |
R580S |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,251,130 (GRCm39) |
I14F |
probably damaging |
Het |
Mtf1 |
T |
C |
4: 124,715,101 (GRCm39) |
L242P |
probably damaging |
Het |
Nfkb1 |
C |
A |
3: 135,309,568 (GRCm39) |
A509S |
probably benign |
Het |
Or2h2b-ps1 |
C |
G |
17: 37,480,858 (GRCm39) |
S227T |
probably benign |
Het |
Or2n1b |
G |
A |
17: 38,460,003 (GRCm39) |
D175N |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,449 (GRCm39) |
I205K |
probably damaging |
Het |
Or7a36 |
G |
T |
10: 78,819,928 (GRCm39) |
M101I |
probably benign |
Het |
Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
Pabpc2 |
A |
T |
18: 39,907,635 (GRCm39) |
N300I |
probably damaging |
Het |
Peg10 |
C |
T |
6: 4,755,864 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
T |
A |
6: 14,719,603 (GRCm39) |
D437V |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
Prkab2 |
T |
C |
3: 97,580,308 (GRCm39) |
|
probably benign |
Het |
Pus3 |
T |
A |
9: 35,476,932 (GRCm39) |
L243Q |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,605,905 (GRCm39) |
S182G |
probably damaging |
Het |
Rgs19 |
G |
A |
2: 181,331,336 (GRCm39) |
T99M |
possibly damaging |
Het |
Ripk2 |
A |
G |
4: 16,127,663 (GRCm39) |
S360P |
possibly damaging |
Het |
Rock1 |
A |
G |
18: 10,140,210 (GRCm39) |
I127T |
probably damaging |
Het |
Serpinb10 |
T |
G |
1: 107,469,947 (GRCm39) |
M143R |
probably damaging |
Het |
Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,093,465 (GRCm39) |
Q226L |
probably damaging |
Het |
Supv3l1 |
A |
T |
10: 62,271,291 (GRCm39) |
N415K |
probably benign |
Het |
Tekt4 |
A |
G |
17: 25,692,749 (GRCm39) |
R192G |
probably damaging |
Het |
Trgv7 |
A |
T |
13: 19,362,598 (GRCm39) |
K96* |
probably null |
Het |
Tshz1 |
T |
C |
18: 84,032,053 (GRCm39) |
N785S |
probably benign |
Het |
Usb1 |
A |
G |
8: 96,070,679 (GRCm39) |
T202A |
probably damaging |
Het |
Utp18 |
A |
T |
11: 93,761,363 (GRCm39) |
D348E |
possibly damaging |
Het |
Vmn1r42 |
T |
G |
6: 89,821,598 (GRCm39) |
I324L |
probably benign |
Het |
Wnt8a |
A |
T |
18: 34,678,656 (GRCm39) |
R157* |
probably null |
Het |
Ypel1 |
A |
G |
16: 16,902,472 (GRCm39) |
|
probably null |
Het |
Zfp235 |
A |
G |
7: 23,836,546 (GRCm39) |
K31E |
probably damaging |
Het |
Zhx2 |
G |
C |
15: 57,686,089 (GRCm39) |
W486S |
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 |
|
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 |
|
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'- AAGGTCTAAGAAGTTGCCAGC -3'
(R):5'- TATCTGCTCTTCAGGTCGGG -3'
Sequencing Primer
(F):5'- GCCAGCAACCATTTCTTCCAC -3'
(R):5'- AGCAGGCCCTTCCCAATGTC -3'
|
Posted On |
2016-06-06 |