Incidental Mutation 'R7900:Slc6a19'
| ID |
609958 |
| 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 |
045952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R7900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73679745-73704865 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 73700464 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 57
(R57H)
|
| 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: R57H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: R57H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
32 |
608 |
2.3e-180 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124406
AA Change: R57H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119313
Gene: ENSMUSG00000021565
AA Change: R57H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
32 |
79 |
1.7e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.5771 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,558,995 (GRCm38) |
R92S |
unknown |
Het |
| Adamtsl5 |
A |
G |
10: 80,341,901 (GRCm38) |
F309S |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,407,417 (GRCm38) |
T213I |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,739,777 (GRCm38) |
S528P |
probably benign |
Het |
| Camk2a |
A |
G |
18: 60,957,366 (GRCm38) |
Y222C |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,622,888 (GRCm38) |
D639G |
probably damaging |
Het |
| Ctbp2 |
A |
C |
7: 133,014,599 (GRCm38) |
S202R |
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,107 (GRCm38) |
L798F |
probably damaging |
Het |
| Cyp11a1 |
T |
A |
9: 58,016,384 (GRCm38) |
V124E |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,266,594 (GRCm38) |
|
probably null |
Het |
| Dlst |
G |
T |
12: 85,130,518 (GRCm38) |
R346L |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,518,428 (GRCm38) |
S375P |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 162,355,371 (GRCm38) |
Y125F |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,546,079 (GRCm38) |
A2011T |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,848,135 (GRCm38) |
|
probably null |
Het |
| Egln1 |
A |
T |
8: 124,914,140 (GRCm38) |
I319N |
possibly damaging |
Het |
| Gata3 |
T |
A |
2: 9,858,650 (GRCm38) |
N351I |
probably damaging |
Het |
| Gjc1 |
T |
C |
11: 102,800,094 (GRCm38) |
N361S |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,534,739 (GRCm38) |
T546A |
probably damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,597,942 (GRCm38) |
F169L |
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,050,466 (GRCm38) |
I375L |
possibly damaging |
Het |
| Itpka |
A |
T |
2: 119,750,513 (GRCm38) |
T381S |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,741,963 (GRCm38) |
|
probably benign |
Het |
| Lrguk |
T |
C |
6: 34,129,194 (GRCm38) |
L718P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nr1d1 |
T |
A |
11: 98,769,711 (GRCm38) |
T477S |
probably benign |
Het |
| Nxnl1 |
A |
T |
8: 71,566,526 (GRCm38) |
D18E |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,341,587 (GRCm38) |
R403L |
probably damaging |
Het |
| Or51v14 |
T |
C |
7: 103,611,693 (GRCm38) |
Y220C |
possibly damaging |
Het |
| Or5an1 |
T |
A |
19: 12,283,341 (GRCm38) |
C98S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,428,514 (GRCm38) |
T1177A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,853,344 (GRCm38) |
V405A |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,245,297 (GRCm38) |
T72A |
probably damaging |
Het |
| Retnla |
A |
C |
16: 48,843,614 (GRCm38) |
R90S |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,526,230 (GRCm38) |
I385N |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,899,373 (GRCm38) |
D110G |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,219,361 (GRCm38) |
Y975C |
probably damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,777,636 (GRCm38) |
N176I |
possibly damaging |
Het |
| Tecrl |
A |
C |
5: 83,279,341 (GRCm38) |
V320G |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,924,973 (GRCm38) |
|
probably null |
Het |
| Tpd52l1 |
T |
A |
10: 31,338,182 (GRCm38) |
|
probably null |
Het |
| Trbv2 |
A |
G |
6: 41,047,974 (GRCm38) |
Y108C |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,797,498 (GRCm38) |
M1689V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,409,400 (GRCm38) |
Y1855C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,384,354 (GRCm38) |
S721R |
possibly damaging |
Het |
| Vwf |
G |
A |
6: 125,628,476 (GRCm38) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,573,773 (GRCm38) |
|
probably null |
Het |
| Yeats4 |
G |
A |
10: 117,220,559 (GRCm38) |
H71Y |
possibly damaging |
Het |
| Zbtb38 |
A |
C |
9: 96,688,936 (GRCm38) |
L32V |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,519 (GRCm38) |
T749A |
possibly damaging |
Het |
|
| Other mutations in Slc6a19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02401:Slc6a19
|
APN |
13 |
73,700,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02425:Slc6a19
|
APN |
13 |
73,691,800 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03030:Slc6a19
|
APN |
13 |
73,700,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03067:Slc6a19
|
APN |
13 |
73,689,730 (GRCm38) |
nonsense |
probably null |
|
|
IGL03216:Slc6a19
|
APN |
13 |
73,686,181 (GRCm38) |
missense |
probably benign |
|
|
IGL03330:Slc6a19
|
APN |
13 |
73,689,560 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
momentum
|
UTSW |
13 |
73,681,717 (GRCm38) |
missense |
probably damaging |
0.98 |
|
rifling
|
UTSW |
13 |
73,685,840 (GRCm38) |
nonsense |
probably null |
|
|
H8562:Slc6a19
|
UTSW |
13 |
73,700,124 (GRCm38) |
intron |
probably benign |
|
|
R0107:Slc6a19
|
UTSW |
13 |
73,684,057 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0446:Slc6a19
|
UTSW |
13 |
73,691,695 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1422:Slc6a19
|
UTSW |
13 |
73,685,869 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1443:Slc6a19
|
UTSW |
13 |
73,684,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1501:Slc6a19
|
UTSW |
13 |
73,684,048 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1564:Slc6a19
|
UTSW |
13 |
73,686,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1632:Slc6a19
|
UTSW |
13 |
73,689,908 (GRCm38) |
splice site |
probably null |
|
|
R1832:Slc6a19
|
UTSW |
13 |
73,692,950 (GRCm38) |
missense |
probably benign |
|
|
R2077:Slc6a19
|
UTSW |
13 |
73,700,566 (GRCm38) |
missense |
probably benign |
|
|
R4418:Slc6a19
|
UTSW |
13 |
73,684,395 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4486:Slc6a19
|
UTSW |
13 |
73,681,717 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4510:Slc6a19
|
UTSW |
13 |
73,683,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4511:Slc6a19
|
UTSW |
13 |
73,683,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4803:Slc6a19
|
UTSW |
13 |
73,684,042 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4965:Slc6a19
|
UTSW |
13 |
73,700,558 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4988:Slc6a19
|
UTSW |
13 |
73,685,840 (GRCm38) |
nonsense |
probably null |
|
|
R5085:Slc6a19
|
UTSW |
13 |
73,691,753 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5533:Slc6a19
|
UTSW |
13 |
73,685,829 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5851:Slc6a19
|
UTSW |
13 |
73,691,740 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5874:Slc6a19
|
UTSW |
13 |
73,684,368 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6074:Slc6a19
|
UTSW |
13 |
73,689,763 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6608:Slc6a19
|
UTSW |
13 |
73,683,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7275:Slc6a19
|
UTSW |
13 |
73,686,078 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7386:Slc6a19
|
UTSW |
13 |
73,689,891 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7388:Slc6a19
|
UTSW |
13 |
73,693,084 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7393:Slc6a19
|
UTSW |
13 |
73,692,974 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7832:Slc6a19
|
UTSW |
13 |
73,693,063 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8220:Slc6a19
|
UTSW |
13 |
73,685,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8713:Slc6a19
|
UTSW |
13 |
73,700,621 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8977:Slc6a19
|
UTSW |
13 |
73,682,150 (GRCm38) |
missense |
probably benign |
|
|
R9457:Slc6a19
|
UTSW |
13 |
73,681,765 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9569:Slc6a19
|
UTSW |
13 |
73,685,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9662:Slc6a19
|
UTSW |
13 |
73,691,703 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:Slc6a19
|
UTSW |
13 |
73,689,730 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
Z1177:Slc6a19
|
UTSW |
13 |
73,684,258 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCGGCAACAACTTTAGAGAC -3'
(R):5'- ACAACCACTTGCCCTTTGG -3'
Sequencing Primer
(F):5'- CGGCAACAACTTTAGAGACTATTAC -3'
(R):5'- CTTTGGCTGCCGAGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation