Incidental Mutation 'IGL02201:Slc38a1'
ID284202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a1
Ensembl Gene ENSMUSG00000023169
Gene Namesolute carrier family 38, member 1
SynonymsNAT2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02201
Quality Score
Status
Chromosome15
Chromosomal Location96571418-96642913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96578798 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 394 (V394E)
Ref Sequence ENSEMBL: ENSMUSP00000097833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088452] [ENSMUST00000088454] [ENSMUST00000100262]
Predicted Effect probably damaging
Transcript: ENSMUST00000088452
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: V394E

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 6.1e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088454
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: V394E

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100262
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: V394E

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230756
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 G A 1: 78,699,153 G484R probably damaging Het
Adgrb3 A G 1: 25,420,550 probably benign Het
Akr1c14 A G 13: 4,081,022 D238G probably damaging Het
Ccdc88b T A 19: 6,846,631 D1418V probably damaging Het
Cnnm4 A T 1: 36,472,750 K353M probably damaging Het
Col6a6 A G 9: 105,780,995 F673L probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk1a A G 16: 94,692,149 E747G probably benign Het
Eml5 T A 12: 98,794,424 probably benign Het
Ercc6l2 A G 13: 63,852,969 N516D probably benign Het
Fbxl17 A G 17: 63,499,029 L330P probably damaging Het
Fgr A T 4: 132,994,924 Y168F probably damaging Het
Frem2 T G 3: 53,519,640 K2962N probably benign Het
Hdac4 G T 1: 91,987,660 probably null Het
Il1r1 A T 1: 40,313,268 N533Y probably damaging Het
Kcnab2 T C 4: 152,401,918 probably benign Het
Knl1 C T 2: 119,069,152 P445S probably benign Het
Lamb2 G A 9: 108,487,542 C1165Y probably damaging Het
Nisch C T 14: 31,187,094 probably benign Het
Olfr1097 A G 2: 86,891,076 L33P probably damaging Het
Olfr1357 C T 10: 78,612,270 V124M probably damaging Het
Olfr164 A T 16: 19,286,462 S94T probably benign Het
Olfr889 A G 9: 38,116,597 D267G probably benign Het
Pde3b T A 7: 114,534,608 M953K probably damaging Het
Pdzph1 A G 17: 58,967,511 probably benign Het
Plce1 T C 19: 38,769,446 probably benign Het
Prr23a3 G T 9: 98,865,244 V84L possibly damaging Het
Psg26 A G 7: 18,480,146 V197A probably benign Het
Ptpa T A 2: 30,446,377 C80S possibly damaging Het
Ripk4 A T 16: 97,755,177 V122E possibly damaging Het
Scd2 A G 19: 44,301,340 N258S probably damaging Het
Slc7a15 A G 12: 8,539,023 S175P possibly damaging Het
Tacc2 T A 7: 130,626,212 D1542E possibly damaging Het
Trim67 G T 8: 124,794,058 R53L probably benign Het
Urah A T 7: 140,835,663 T38S probably damaging Het
Vps13c A G 9: 67,967,136 S3362G probably damaging Het
Wwc1 T C 11: 35,844,151 probably benign Het
Zfyve28 T C 5: 34,243,205 T50A probably damaging Het
Other mutations in Slc38a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Slc38a1 APN 15 96585623 missense possibly damaging 0.89
IGL01376:Slc38a1 APN 15 96585556 missense probably damaging 1.00
IGL01920:Slc38a1 APN 15 96586897 missense probably benign
IGL01993:Slc38a1 APN 15 96624046 missense probably damaging 1.00
IGL03074:Slc38a1 APN 15 96592524 missense possibly damaging 0.72
IGL03370:Slc38a1 APN 15 96579347 missense possibly damaging 0.93
R0918:Slc38a1 UTSW 15 96609862 missense probably damaging 1.00
R1506:Slc38a1 UTSW 15 96585550 missense probably benign 0.04
R1510:Slc38a1 UTSW 15 96609860 missense probably damaging 1.00
R1713:Slc38a1 UTSW 15 96578760 missense probably damaging 1.00
R1721:Slc38a1 UTSW 15 96587135 missense probably damaging 1.00
R1867:Slc38a1 UTSW 15 96587135 missense probably damaging 1.00
R4254:Slc38a1 UTSW 15 96585550 missense probably benign 0.04
R4255:Slc38a1 UTSW 15 96585550 missense probably benign 0.04
R4754:Slc38a1 UTSW 15 96576782 missense probably damaging 0.98
R5548:Slc38a1 UTSW 15 96590474 missense probably damaging 1.00
R5610:Slc38a1 UTSW 15 96616141 critical splice donor site probably null
R6235:Slc38a1 UTSW 15 96578792 missense probably benign 0.36
R6288:Slc38a1 UTSW 15 96586878 missense probably benign 0.12
R7904:Slc38a1 UTSW 15 96624040 missense possibly damaging 0.95
R8195:Slc38a1 UTSW 15 96592566 missense probably benign 0.27
Posted On2015-04-16