Incidental Mutation 'IGL01920:Slc38a1'
ID180080
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: 0.168) question?
Stock #IGL01920
Quality Score
Status
Chromosome15
Chromosomal Location96571418-96642913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 96586897 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 261 (A261T)
Ref Sequence ENSEMBL: ENSMUSP00000097833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088452] [ENSMUST00000088454] [ENSMUST00000100262]
Predicted Effect probably benign
Transcript: ENSMUST00000088452
AA Change: A261T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: A261T

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 6.1e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088454
AA Change: A261T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: A261T

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100262
AA Change: A261T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: A261T

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars C T 8: 111,043,246 R326W probably damaging Het
Acad11 T C 9: 104,063,905 probably null Het
Acat2 A G 17: 12,944,025 I312T probably benign Het
Adgrl3 T C 5: 81,465,296 V192A probably damaging Het
Akap1 T C 11: 88,839,633 H643R probably damaging Het
Akap7 A T 10: 25,289,603 C85* probably null Het
Ankrd11 T C 8: 122,915,897 probably benign Het
Ano1 G A 7: 144,611,454 probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Csnk1g2 T C 10: 80,638,428 L161P probably damaging Het
Dvl2 A G 11: 70,008,047 H420R probably benign Het
Fam135b G T 15: 71,622,036 H15N possibly damaging Het
Foxj1 G T 11: 116,331,920 H352Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Hectd1 T C 12: 51,782,554 I969M probably damaging Het
Kcnh3 C A 15: 99,233,377 P544T probably benign Het
Olfr855 A C 9: 19,585,022 M162L probably benign Het
Pcnt A G 10: 76,404,528 L1224P probably damaging Het
Prss2 A G 6: 41,524,543 N182S possibly damaging Het
Sgsm1 A T 5: 113,273,605 W594R probably damaging Het
Vcan C T 13: 89,689,205 G2740E probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 G A 17: 35,024,603 V729I probably benign 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
IGL01993:Slc38a1 APN 15 96624046 missense probably damaging 1.00
IGL02201:Slc38a1 APN 15 96578798 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
Posted On2014-05-07