Incidental Mutation 'R5851:Slc6a19'
| ID |
454690 |
| 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 |
044067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5851 (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 73839859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 141
(F141S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022048]
[ENSMUST00000124406]
|
| AlphaFold |
Q9D687 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022048
AA Change: F141S
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: F141S
| 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 |
0.5044 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,332,322 (GRCm39) |
N1452D |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,409,273 (GRCm39) |
L329P |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,225,205 (GRCm39) |
S442P |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,484,980 (GRCm39) |
F228L |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,688 (GRCm39) |
Y475N |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,612 (GRCm39) |
N1257S |
probably null |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Ceacam1 |
T |
C |
7: 25,174,025 (GRCm39) |
N210S |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,433 (GRCm39) |
I7N |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,300 (GRCm39) |
L155H |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,844,167 (GRCm39) |
V55A |
possibly damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,144 (GRCm39) |
G305D |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,638,585 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,617,499 (GRCm39) |
L1077P |
probably damaging |
Het |
| Fam174a |
G |
A |
1: 95,252,868 (GRCm39) |
G157S |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,488,622 (GRCm39) |
D159E |
probably benign |
Het |
| Garem2 |
C |
T |
5: 30,319,288 (GRCm39) |
T250M |
probably damaging |
Het |
| H2-Eb1 |
C |
T |
17: 34,528,745 (GRCm39) |
P92L |
probably benign |
Het |
| Ifnl3 |
G |
T |
7: 28,222,936 (GRCm39) |
C69F |
probably damaging |
Het |
| Itga2b |
C |
A |
11: 102,348,427 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,335 (GRCm39) |
D386E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Loricrin |
G |
A |
3: 91,987,846 (GRCm39) |
A480V |
unknown |
Het |
| Msh3 |
G |
T |
13: 92,352,030 (GRCm39) |
Q1041K |
probably benign |
Het |
| Mtrex |
G |
A |
13: 113,045,486 (GRCm39) |
R349W |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,291,086 (GRCm39) |
G959E |
probably benign |
Het |
| Nfat5 |
G |
T |
8: 108,074,359 (GRCm39) |
V338L |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,089,975 (GRCm39) |
H18R |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,537,382 (GRCm39) |
D752G |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,885,526 (GRCm39) |
L2489* |
probably null |
Het |
| Or4p22 |
A |
G |
2: 88,317,204 (GRCm39) |
I43V |
possibly damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,659 (GRCm39) |
E59G |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,577,301 (GRCm39) |
S215P |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,581,797 (GRCm39) |
Y26* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,545,811 (GRCm39) |
I296V |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,741 (GRCm39) |
T514P |
probably benign |
Het |
| Pnlip |
G |
A |
19: 58,662,224 (GRCm39) |
W123* |
probably null |
Het |
| Prmt2 |
C |
A |
10: 76,072,574 (GRCm39) |
C9F |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,009,245 (GRCm39) |
K763N |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,372,562 (GRCm39) |
A28V |
probably damaging |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 141,948,424 (GRCm39) |
V590I |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,143 (GRCm39) |
K140E |
probably benign |
Het |
| Sla |
G |
A |
15: 66,655,572 (GRCm39) |
T189I |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,906 (GRCm39) |
V339A |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,742,797 (GRCm39) |
F432L |
probably benign |
Het |
| Tas2r123 |
T |
C |
6: 132,824,271 (GRCm39) |
L56S |
probably damaging |
Het |
| Tektip1 |
A |
T |
10: 81,200,711 (GRCm39) |
|
probably null |
Het |
| Tmem245 |
T |
C |
4: 56,916,770 (GRCm39) |
I53V |
probably benign |
Het |
| Tor2a |
A |
T |
2: 32,651,619 (GRCm39) |
Q278L |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,572 (GRCm39) |
M15V |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,383,335 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,206,268 (GRCm39) |
Q534* |
probably null |
Het |
| Yju2 |
C |
T |
17: 56,274,582 (GRCm39) |
S298F |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,118,624 (GRCm39) |
E307* |
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,124,740 (GRCm39) |
K219E |
probably benign |
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 |
|
|
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 |
|
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'- CCACAAGGTCTAAGAAGTTGCC -3'
(R):5'- TATCTGCTCTTCAGGTCGGG -3'
Sequencing Primer
(F):5'- GCCAGCAACCATTTCTTCCAC -3'
(R):5'- AGCAGGCCCTTCCCAATGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation