Incidental Mutation 'R6074:Slc6a19'
ID |
482662 |
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 |
044235-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R6074 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73827864-73848899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73837882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 206
(S206G)
|
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: S206G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000022048 Gene: ENSMUSG00000021565 AA Change: S206G
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 |
0.0625 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (61/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amigo1 |
T |
A |
3: 108,099,009 (GRCm39) |
C189* |
probably null |
Het |
Auts2 |
G |
T |
5: 131,505,828 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
C |
A |
6: 23,626,670 (GRCm39) |
W177L |
probably damaging |
Het |
Camk2b |
G |
T |
11: 5,939,635 (GRCm39) |
P223Q |
probably damaging |
Het |
Ccdc74a |
C |
A |
16: 17,464,591 (GRCm39) |
S9* |
probably null |
Het |
Ccnt1 |
A |
C |
15: 98,441,205 (GRCm39) |
Y688D |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
Ceacam3 |
C |
T |
7: 16,885,484 (GRCm39) |
T29I |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,710,589 (GRCm39) |
S1473P |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,565,564 (GRCm39) |
T256S |
unknown |
Het |
Eif2d |
T |
A |
1: 131,094,079 (GRCm39) |
D423E |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,966,723 (GRCm39) |
|
probably null |
Het |
Gaa |
G |
A |
11: 119,175,012 (GRCm39) |
R871H |
probably benign |
Het |
Galnt12 |
T |
A |
4: 47,112,405 (GRCm39) |
V37D |
probably damaging |
Het |
Glp2r |
A |
G |
11: 67,637,640 (GRCm39) |
S13P |
unknown |
Het |
Gnptab |
C |
T |
10: 88,268,940 (GRCm39) |
L548F |
probably damaging |
Het |
Heg1 |
C |
T |
16: 33,547,573 (GRCm39) |
P787S |
possibly damaging |
Het |
Hivep2 |
T |
A |
10: 14,007,485 (GRCm39) |
M1361K |
probably benign |
Het |
Hivep3 |
T |
C |
4: 119,954,891 (GRCm39) |
I1069T |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,268,046 (GRCm39) |
D2121G |
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,422,322 (GRCm39) |
|
probably null |
Het |
Ighv1-75 |
T |
C |
12: 115,798,007 (GRCm39) |
S4G |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,901,308 (GRCm39) |
|
probably benign |
Het |
Kcna6 |
A |
G |
6: 126,716,242 (GRCm39) |
S216P |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,865,095 (GRCm39) |
T526S |
probably benign |
Het |
Kng2 |
C |
T |
16: 22,819,346 (GRCm39) |
G230D |
probably benign |
Het |
Lgi2 |
A |
T |
5: 52,703,984 (GRCm39) |
F216I |
probably benign |
Het |
Lratd1 |
G |
A |
12: 14,200,512 (GRCm39) |
H72Y |
probably benign |
Het |
Lss |
T |
A |
10: 76,379,693 (GRCm39) |
N383K |
probably damaging |
Het |
Mical1 |
T |
C |
10: 41,362,061 (GRCm39) |
M929T |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Nat8f4 |
A |
G |
6: 85,878,169 (GRCm39) |
V118A |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,945 (GRCm39) |
N194K |
probably benign |
Het |
Or4p23 |
A |
C |
2: 88,576,566 (GRCm39) |
L222R |
probably damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,497 (GRCm39) |
T282M |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,030,335 (GRCm39) |
S188T |
probably benign |
Het |
Pea15a |
C |
T |
1: 172,026,752 (GRCm39) |
R85H |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,798,836 (GRCm39) |
I919T |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,835,968 (GRCm39) |
D232G |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,415,602 (GRCm39) |
S1837P |
probably benign |
Het |
Samd5 |
T |
A |
10: 9,550,334 (GRCm39) |
Y125F |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,662,397 (GRCm39) |
T597A |
unknown |
Het |
Slc25a12 |
A |
G |
2: 71,106,798 (GRCm39) |
F605L |
probably benign |
Het |
Slc39a12 |
C |
T |
2: 14,412,290 (GRCm39) |
Q321* |
probably null |
Het |
Tacc2 |
T |
A |
7: 130,227,165 (GRCm39) |
H1283Q |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,971 (GRCm39) |
E290G |
possibly damaging |
Het |
Timd2 |
C |
T |
11: 46,577,999 (GRCm39) |
G44D |
possibly damaging |
Het |
Tmem74 |
A |
G |
15: 43,730,134 (GRCm39) |
V303A |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,128,186 (GRCm39) |
V785A |
probably benign |
Het |
Tpra1 |
T |
A |
6: 88,888,919 (GRCm39) |
I367N |
possibly damaging |
Het |
Txnrd2 |
T |
C |
16: 18,256,297 (GRCm39) |
I95T |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,885,399 (GRCm39) |
V1216A |
probably benign |
Het |
Usp54 |
C |
A |
14: 20,602,167 (GRCm39) |
M1394I |
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,322,167 (GRCm39) |
F177L |
probably benign |
Het |
Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,805,596 (GRCm39) |
|
probably null |
Het |
Wnk2 |
A |
T |
13: 49,204,875 (GRCm39) |
C458S |
probably damaging |
Het |
Xkr6 |
T |
G |
14: 63,844,519 (GRCm39) |
F181V |
possibly damaging |
Het |
Zfp212 |
T |
A |
6: 47,903,986 (GRCm39) |
C149* |
probably null |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp661 |
A |
G |
2: 127,419,793 (GRCm39) |
S116P |
probably benign |
Het |
Zfp770 |
A |
G |
2: 114,026,870 (GRCm39) |
Y400H |
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 |
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 |
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 |
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'- TCAGAGTCAAGCCACGGATG -3'
(R):5'- GTTGTGAACGCCTCAGACAG -3'
|
Posted On |
2017-07-14 |