Incidental Mutation 'R4988:Slc6a19'
| ID |
385970 |
| 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 |
042582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 73833959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 366
(W366*)
|
| 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: W366*
|
| SMART Domains |
Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: W366*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (58/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
G |
A |
1: 130,670,447 (GRCm39) |
G223E |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,154,236 (GRCm39) |
N110S |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,154,121 (GRCm39) |
H947Q |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,380,276 (GRCm39) |
M2202T |
probably damaging |
Het |
| Amy2b |
T |
C |
3: 113,058,550 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef4 |
A |
T |
1: 34,762,535 (GRCm39) |
H597L |
unknown |
Het |
| Asgr2 |
A |
G |
11: 69,988,665 (GRCm39) |
I119M |
probably benign |
Het |
| Casc3 |
T |
G |
11: 98,712,700 (GRCm39) |
|
probably null |
Het |
| Cbr1b |
A |
G |
16: 93,426,884 (GRCm39) |
T162A |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,872,013 (GRCm39) |
M239K |
possibly damaging |
Het |
| Cdc27 |
A |
G |
11: 104,416,950 (GRCm39) |
S334P |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,827,336 (GRCm39) |
E476G |
probably damaging |
Het |
| Clec3a |
T |
A |
8: 115,144,827 (GRCm39) |
M1K |
probably null |
Het |
| Col9a1 |
T |
C |
1: 24,224,273 (GRCm39) |
S152P |
unknown |
Het |
| Cpd |
A |
G |
11: 76,705,656 (GRCm39) |
S359P |
probably damaging |
Het |
| Ctnnal1 |
A |
T |
4: 56,847,854 (GRCm39) |
L95* |
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,558,827 (GRCm39) |
D1044G |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,028,078 (GRCm39) |
S418P |
probably damaging |
Het |
| Elp5 |
T |
C |
11: 69,870,668 (GRCm39) |
D59G |
probably benign |
Het |
| Fam210a |
G |
A |
18: 68,409,218 (GRCm39) |
R31C |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,513,019 (GRCm39) |
T792A |
probably damaging |
Het |
| Fmc1 |
A |
T |
6: 38,511,917 (GRCm39) |
Y37F |
probably benign |
Het |
| Gm10717 |
T |
A |
9: 3,026,368 (GRCm39) |
L72M |
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,320,067 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4553 |
G |
A |
7: 141,718,729 (GRCm39) |
|
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,768,577 (GRCm39) |
T33A |
possibly damaging |
Het |
| Hhat |
A |
T |
1: 192,339,602 (GRCm39) |
|
probably benign |
Het |
| Hint2 |
T |
C |
4: 43,654,953 (GRCm39) |
I59V |
possibly damaging |
Het |
| Hps4 |
C |
T |
5: 112,526,019 (GRCm39) |
|
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,246,262 (GRCm39) |
F137S |
probably damaging |
Het |
| Klrc2 |
A |
T |
6: 129,633,426 (GRCm39) |
C192S |
probably benign |
Het |
| Map1a |
C |
T |
2: 121,133,531 (GRCm39) |
T1211I |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,537,578 (GRCm39) |
N46S |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,736,347 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,458,266 (GRCm39) |
S1258P |
probably benign |
Het |
| Ndst1 |
C |
T |
18: 60,836,005 (GRCm39) |
G426D |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,554,905 (GRCm39) |
E327G |
possibly damaging |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or10s1 |
G |
A |
9: 39,985,961 (GRCm39) |
M123I |
probably damaging |
Het |
| Or1j18 |
T |
C |
2: 36,624,996 (GRCm39) |
I221T |
possibly damaging |
Het |
| Or2m13 |
A |
T |
16: 19,225,860 (GRCm39) |
M302K |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,930 (GRCm39) |
|
probably null |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,855 (GRCm39) |
A696T |
probably damaging |
Het |
| Polm |
C |
A |
11: 5,787,618 (GRCm39) |
R45L |
probably damaging |
Het |
| Pon3 |
G |
A |
6: 5,254,582 (GRCm39) |
R27* |
probably null |
Het |
| Proser1 |
T |
C |
3: 53,387,046 (GRCm39) |
I845T |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,870 (GRCm39) |
N406D |
possibly damaging |
Het |
| Skint10 |
A |
T |
4: 112,586,069 (GRCm39) |
C182* |
probably null |
Het |
| St7 |
T |
C |
6: 17,934,225 (GRCm39) |
F470L |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,522 (GRCm39) |
Y322F |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,975,814 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,435,723 (GRCm39) |
H1811L |
probably benign |
Het |
| Zfp14 |
G |
A |
7: 29,737,482 (GRCm39) |
T501I |
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 |
|
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'- GAGGGTAAGATGCTGACTGTAC -3'
(R):5'- AGTTGCCACCCTAGCGTTTG -3'
Sequencing Primer
(F):5'- GCTGACTGTACAAAGACTCTCTG -3'
(R):5'- TGTTCAGAGGGCATCCACATAGAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation