Incidental Mutation 'IGL01889:Slc1a4'
| ID |
179217 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc1a4
|
| Ensembl Gene |
ENSMUSG00000020142 |
| Gene Name |
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 |
| Synonyms |
ASCT1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
20252180-20282713 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 20264089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004634]
[ENSMUST00000109594]
|
| AlphaFold |
O35874 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004634
|
| SMART Domains |
Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
1 |
397 |
2.7e-121 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109594
|
| SMART Domains |
Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
44 |
477 |
4.2e-121 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,804,981 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,798,881 (GRCm39) |
V18I |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,048,857 (GRCm39) |
V2282M |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,967 (GRCm38) |
E2269G |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,169,123 (GRCm39) |
I557V |
probably benign |
Het |
| Gapt |
T |
A |
13: 110,490,501 (GRCm39) |
Q54L |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,852 (GRCm39) |
I253N |
possibly damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,327,216 (GRCm39) |
S2T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,538,444 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,225,427 (GRCm39) |
V1048A |
possibly damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,112,261 (GRCm39) |
V636D |
unknown |
Het |
| Nphs1 |
G |
T |
7: 30,159,936 (GRCm39) |
R82S |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,089 (GRCm39) |
F164L |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,309 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or6z3 |
G |
A |
7: 6,463,502 (GRCm39) |
|
probably benign |
Het |
| Papln |
T |
A |
12: 83,833,609 (GRCm39) |
L1175Q |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,530,031 (GRCm39) |
|
probably benign |
Het |
| Rel |
A |
G |
11: 23,707,035 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sdc4 |
A |
G |
2: 164,273,127 (GRCm39) |
L61P |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,189,783 (GRCm39) |
C3989* |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,659,077 (GRCm39) |
V278A |
possibly damaging |
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 |
|
|
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 |
|
|
R0771:Slc1a4
|
UTSW |
11 |
20,256,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation