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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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