Incidental Mutation 'R0771:Slc1a4'
ID |
76958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc1a4
|
Ensembl Gene |
ENSMUSG00000020142 |
Gene Name |
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 |
Synonyms |
ASCT1 |
MMRRC Submission |
038951-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0771 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
20252180-20282713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 20256467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 455
(V455M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004634]
[ENSMUST00000109594]
|
AlphaFold |
O35874 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004634
AA Change: V375M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000004634 Gene: ENSMUSG00000020142 AA Change: V375M
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
1 |
397 |
2.7e-121 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109594
AA Change: V455M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105223 Gene: ENSMUSG00000020142 AA Change: V455M
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
44 |
477 |
4.2e-121 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
T |
C |
11: 76,346,509 (GRCm39) |
E434G |
probably damaging |
Het |
Adam19 |
G |
A |
11: 46,012,280 (GRCm39) |
V259I |
possibly damaging |
Het |
Adam5 |
A |
G |
8: 25,276,315 (GRCm39) |
S451P |
probably benign |
Het |
Chd6 |
G |
A |
2: 160,861,500 (GRCm39) |
L516F |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,168 (GRCm39) |
V154A |
possibly damaging |
Het |
Gadl1 |
G |
A |
9: 115,773,300 (GRCm39) |
R114Q |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,751,843 (GRCm39) |
N936S |
possibly damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,441 (GRCm39) |
S48R |
probably damaging |
Het |
Lgalsl2 |
A |
G |
7: 5,362,822 (GRCm39) |
D151G |
probably damaging |
Het |
Lim2 |
C |
A |
7: 43,080,127 (GRCm39) |
A38E |
possibly damaging |
Het |
Lrp2 |
A |
T |
2: 69,338,334 (GRCm39) |
D1177E |
probably damaging |
Het |
Mdh1 |
C |
T |
11: 21,507,550 (GRCm39) |
V300I |
probably benign |
Het |
Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,778,264 (GRCm39) |
Y114C |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,376,779 (GRCm39) |
C122* |
probably null |
Het |
Nod1 |
T |
G |
6: 54,921,254 (GRCm39) |
S355R |
probably damaging |
Het |
Or52x1 |
T |
A |
7: 104,853,368 (GRCm39) |
M61L |
possibly damaging |
Het |
Or5ap2 |
A |
T |
2: 85,680,338 (GRCm39) |
I181F |
possibly damaging |
Het |
Pcsk1 |
A |
T |
13: 75,280,281 (GRCm39) |
E702V |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,655,339 (GRCm39) |
T543A |
probably damaging |
Het |
Ranbp9 |
T |
C |
13: 43,615,249 (GRCm39) |
I190V |
possibly damaging |
Het |
Sirpd |
T |
A |
3: 15,385,506 (GRCm39) |
Q132L |
probably benign |
Het |
Srbd1 |
T |
A |
17: 86,437,682 (GRCm39) |
E220D |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,327,576 (GRCm39) |
V1432A |
probably benign |
Het |
Zfp61 |
T |
C |
7: 23,992,779 (GRCm39) |
R71G |
probably benign |
Het |
|
Other mutations in Slc1a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01141:Slc1a4
|
APN |
11 |
20,258,644 (GRCm39) |
splice site |
probably benign |
|
IGL01889:Slc1a4
|
APN |
11 |
20,264,089 (GRCm39) |
splice site |
probably benign |
|
IGL02725:Slc1a4
|
APN |
11 |
20,258,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03409:Slc1a4
|
APN |
11 |
20,256,506 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Slc1a4
|
UTSW |
11 |
20,282,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R0085:Slc1a4
|
UTSW |
11 |
20,254,510 (GRCm39) |
splice site |
probably benign |
|
R0898:Slc1a4
|
UTSW |
11 |
20,254,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1326:Slc1a4
|
UTSW |
11 |
20,282,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Slc1a4
|
UTSW |
11 |
20,254,375 (GRCm39) |
missense |
probably benign |
0.31 |
R2497:Slc1a4
|
UTSW |
11 |
20,282,620 (GRCm39) |
start gained |
probably benign |
|
R3498:Slc1a4
|
UTSW |
11 |
20,263,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Slc1a4
|
UTSW |
11 |
20,254,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4631:Slc1a4
|
UTSW |
11 |
20,258,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R4885:Slc1a4
|
UTSW |
11 |
20,254,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Slc1a4
|
UTSW |
11 |
20,282,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R5533:Slc1a4
|
UTSW |
11 |
20,254,417 (GRCm39) |
missense |
probably benign |
0.01 |
R5548:Slc1a4
|
UTSW |
11 |
20,254,429 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6523:Slc1a4
|
UTSW |
11 |
20,282,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Slc1a4
|
UTSW |
11 |
20,264,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R6941:Slc1a4
|
UTSW |
11 |
20,254,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R7508:Slc1a4
|
UTSW |
11 |
20,256,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Slc1a4
|
UTSW |
11 |
20,258,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Slc1a4
|
UTSW |
11 |
20,282,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Slc1a4
|
UTSW |
11 |
20,258,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R8142:Slc1a4
|
UTSW |
11 |
20,257,890 (GRCm39) |
critical splice donor site |
probably null |
|
R8301:Slc1a4
|
UTSW |
11 |
20,282,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R8398:Slc1a4
|
UTSW |
11 |
20,257,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Slc1a4
|
UTSW |
11 |
20,270,237 (GRCm39) |
splice site |
probably benign |
|
R9031:Slc1a4
|
UTSW |
11 |
20,282,532 (GRCm39) |
start gained |
probably benign |
|
R9132:Slc1a4
|
UTSW |
11 |
20,258,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Slc1a4
|
UTSW |
11 |
20,282,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R9352:Slc1a4
|
UTSW |
11 |
20,282,025 (GRCm39) |
missense |
probably damaging |
0.97 |
R9548:Slc1a4
|
UTSW |
11 |
20,258,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R9616:Slc1a4
|
UTSW |
11 |
20,282,403 (GRCm39) |
missense |
probably benign |
|
X0025:Slc1a4
|
UTSW |
11 |
20,268,703 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCATTTGCACAGCCCCTTGAAC -3'
(R):5'- TTGCTGTACCCTAGAGTGACTGCC -3'
Sequencing Primer
(F):5'- TACTACAGGCAAGTCCTGGATG -3'
(R):5'- AGTGACTGCCACGGCATC -3'
|
Posted On |
2013-10-16 |