Incidental Mutation 'R0446:Slc6a19'
| ID |
39401 |
| 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 |
038647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R0446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73839814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 156
(N156S)
|
| 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: N156S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: N156S
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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 |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,766 (GRCm39) |
T42A |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,730 (GRCm39) |
I181K |
probably damaging |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,992 (GRCm39) |
E82G |
probably benign |
Het |
| Bag1 |
G |
A |
4: 40,936,609 (GRCm39) |
T349I |
probably benign |
Het |
| Brip1 |
A |
T |
11: 86,048,427 (GRCm39) |
L305Q |
probably damaging |
Het |
| Cdipt |
A |
G |
7: 126,577,436 (GRCm39) |
T61A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,536,295 (GRCm39) |
D515G |
probably benign |
Het |
| Cpsf4 |
T |
A |
5: 145,114,054 (GRCm39) |
L171Q |
probably damaging |
Het |
| Cstpp1 |
G |
A |
2: 91,135,109 (GRCm39) |
T20I |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,918,009 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,873,101 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
G |
18: 37,986,643 (GRCm39) |
V1114A |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,452,348 (GRCm39) |
K211* |
probably null |
Het |
| Fam170a |
T |
A |
18: 50,413,699 (GRCm39) |
C55S |
possibly damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,572,788 (GRCm39) |
S119P |
probably benign |
Het |
| Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,254,760 (GRCm39) |
T894M |
possibly damaging |
Het |
| Gad1-ps |
C |
A |
10: 99,281,383 (GRCm39) |
|
noncoding transcript |
Het |
| Gss |
T |
C |
2: 155,409,665 (GRCm39) |
E257G |
probably benign |
Het |
| Klhdc1 |
A |
C |
12: 69,330,082 (GRCm39) |
S404R |
probably benign |
Het |
| Kmt2e |
T |
A |
5: 23,702,532 (GRCm39) |
|
probably null |
Het |
| Krt20 |
G |
A |
11: 99,328,602 (GRCm39) |
Q108* |
probably null |
Het |
| Lmnb1 |
T |
A |
18: 56,876,331 (GRCm39) |
S480T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,633 (GRCm39) |
M1015K |
probably benign |
Het |
| Mdm1 |
T |
G |
10: 117,987,961 (GRCm39) |
S290A |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,426,439 (GRCm39) |
F238I |
probably damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,984 (GRCm39) |
V189A |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,614 (GRCm39) |
E8K |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,282,659 (GRCm39) |
I747V |
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,886,238 (GRCm39) |
|
probably benign |
Het |
| Or10d3 |
A |
T |
9: 39,461,747 (GRCm39) |
I140N |
probably damaging |
Het |
| Or5p57 |
A |
T |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or5w20 |
T |
C |
2: 87,727,199 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,384 (GRCm39) |
S160T |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,478,024 (GRCm39) |
V305A |
probably benign |
Het |
| Or8b53 |
G |
T |
9: 38,667,114 (GRCm39) |
L43F |
probably damaging |
Het |
| Orc5 |
C |
T |
5: 22,751,455 (GRCm39) |
V85I |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,864,850 (GRCm39) |
D468G |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,375,110 (GRCm39) |
V1675E |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pltp |
A |
T |
2: 164,696,320 (GRCm39) |
N97K |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,927,648 (GRCm39) |
|
probably null |
Het |
| Prss42 |
G |
A |
9: 110,628,341 (GRCm39) |
V162I |
possibly damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,983,455 (GRCm39) |
Y269N |
probably damaging |
Het |
| Rftn2 |
A |
T |
1: 55,253,354 (GRCm39) |
I83K |
probably damaging |
Het |
| S1pr4 |
A |
T |
10: 81,334,823 (GRCm39) |
I217N |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,920,353 (GRCm39) |
K184R |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,068,994 (GRCm39) |
H358L |
possibly damaging |
Het |
| Tex55 |
G |
A |
16: 38,649,064 (GRCm39) |
T15I |
probably benign |
Het |
| Tigit |
G |
T |
16: 43,482,634 (GRCm39) |
N33K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,707,878 (GRCm39) |
Y139C |
probably damaging |
Het |
| Trmt13 |
G |
A |
3: 116,376,275 (GRCm39) |
T372M |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,224 (GRCm39) |
M303K |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,417,207 (GRCm39) |
E2952G |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,389,920 (GRCm39) |
I4851F |
unknown |
Het |
| Zfand4 |
C |
T |
6: 116,265,015 (GRCm39) |
T160I |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,109,993 (GRCm39) |
T228A |
possibly 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 |
|
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 |
|
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'- TGTGTGCCTGCATCTGCATCTG -3'
(R):5'- GAGATACCAGTACGCCTTGCACAG -3'
Sequencing Primer
(F):5'- tccccctgtctctgtcttc -3'
(R):5'- GCCTTGCACAGTGCCATC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation