Incidental Mutation 'IGL01889:Slc1a4'
ID179217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc1a4
Ensembl Gene ENSMUSG00000020142
Gene Namesolute carrier family 1 (glutamate/neutral amino acid transporter), member 4
SynonymsASCT1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01889
Quality Score
Status
Chromosome11
Chromosomal Location20302180-20332713 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 20314089 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004634] [ENSMUST00000109594]
Predicted Effect probably benign
Transcript: ENSMUST00000004634
SMART Domains Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142

DomainStartEndE-ValueType
Pfam:SDF 1 397 2.7e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109594
SMART Domains Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,828,000 probably benign Het
Brap G A 5: 121,660,818 V18I probably benign Het
Csmd1 C T 8: 15,998,857 V2282M probably damaging Het
Flnb A G 14: 7,935,967 E2269G possibly damaging Het
Gaa A G 11: 119,278,297 I557V probably benign Het
Gapt T A 13: 110,353,967 Q54L probably benign Het
Gsdmc A T 15: 63,780,003 I253N possibly damaging Het
Kcnj3 T A 2: 55,437,204 S2T possibly damaging Het
Mindy2 T C 9: 70,631,162 probably benign Het
Ncor1 A G 11: 62,334,601 V1048A possibly damaging Het
Nlrp4d A T 7: 10,378,334 V636D unknown Het
Nphs1 G T 7: 30,460,511 R82S probably damaging Het
Olfr1269 A G 2: 90,118,965 V211A possibly damaging Het
Olfr1336 G A 7: 6,460,503 probably benign Het
Olfr512 T A 7: 108,713,882 F164L probably benign Het
Papln T A 12: 83,786,835 L1175Q probably benign Het
Rab22a T C 2: 173,688,238 probably benign Het
Rel A G 11: 23,757,035 Y56H probably damaging Het
Sdc4 A G 2: 164,431,207 L61P probably damaging Het
Ubr4 T A 4: 139,462,472 C3989* probably null Het
Zfyve16 A G 13: 92,522,569 V278A possibly damaging Het
Other mutations in Slc1a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Slc1a4 APN 11 20308644 splice site probably benign
IGL02725:Slc1a4 APN 11 20308408 missense probably damaging 1.00
IGL03409:Slc1a4 APN 11 20306506 missense probably damaging 1.00
R0085:Slc1a4 UTSW 11 20304510 splice site probably benign
R0771:Slc1a4 UTSW 11 20306467 missense probably damaging 1.00
R0898:Slc1a4 UTSW 11 20304349 missense probably damaging 1.00
R1326:Slc1a4 UTSW 11 20332159 missense probably damaging 1.00
R1992:Slc1a4 UTSW 11 20304375 missense probably benign 0.31
R2497:Slc1a4 UTSW 11 20332620 start gained probably benign
R3498:Slc1a4 UTSW 11 20313973 missense probably damaging 1.00
R4608:Slc1a4 UTSW 11 20304348 missense probably damaging 1.00
R4631:Slc1a4 UTSW 11 20308452 missense probably damaging 1.00
R4885:Slc1a4 UTSW 11 20304384 missense probably damaging 1.00
R4911:Slc1a4 UTSW 11 20332166 missense probably damaging 1.00
R5533:Slc1a4 UTSW 11 20304417 missense probably benign 0.01
R5548:Slc1a4 UTSW 11 20304429 missense possibly damaging 0.68
R6523:Slc1a4 UTSW 11 20332114 missense probably damaging 1.00
R6863:Slc1a4 UTSW 11 20314001 missense probably damaging 1.00
R6941:Slc1a4 UTSW 11 20304346 missense probably damaging 1.00
R7508:Slc1a4 UTSW 11 20306487 missense probably damaging 1.00
X0025:Slc1a4 UTSW 11 20318703 missense probably benign
Posted On2014-05-07