Incidental Mutation 'R1422:Slc6a19'
| ID |
161139 |
| 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 |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1422 (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 73833988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 357
(S357P)
|
| 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: S357P
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: S357P
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
| Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
probably 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 |
|
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'- GATAGGCGAACAGTGGTTCCTTCC -3'
(R):5'- GGTGTTCAGAGGGCATCCACATAG -3'
Sequencing Primer
(F):5'- GCTGACTGTACAAAGACTCTCTG -3'
(R):5'- GCATCCACATAGACCCCTCTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation