Incidental Mutation 'IGL03074:Slc38a1'
ID417608
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: 0.123) question?
Stock #IGL03074
Quality Score
Status
Chromosome15
Chromosomal Location96571418-96642913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96592524 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 124 (I124N)
Ref Sequence ENSEMBL: ENSMUSP00000097833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088452] [ENSMUST00000088454] [ENSMUST00000100262]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088452
AA Change: I124N

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: I124N

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 6.1e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000088454
AA Change: I124N

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: I124N

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100262
AA Change: I124N

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: I124N

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,310,275 Y433F probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anks4b A T 7: 120,181,917 D57V probably damaging Het
Brwd1 A G 16: 96,011,850 V1486A probably benign Het
Cd163 A G 6: 124,317,986 T670A probably benign Het
Dmtf1 T C 5: 9,124,435 probably benign Het
Dnajc22 T A 15: 99,101,522 L196Q probably damaging Het
Dock9 A G 14: 121,607,270 L1097P possibly damaging Het
Dtna T C 18: 23,602,605 V339A possibly damaging Het
Dysf T A 6: 84,188,226 S1646T probably benign Het
Ermp1 A T 19: 29,612,535 Y893N probably damaging Het
Etv6 A T 6: 134,222,925 N76I probably damaging Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fgf21 T C 7: 45,614,181 T158A probably benign Het
Gcm1 T C 9: 78,064,775 S333P possibly damaging Het
Grm7 T A 6: 111,495,643 probably null Het
Itgae T C 11: 73,125,310 F782L probably benign Het
Kbtbd8 A G 6: 95,122,352 T204A probably damaging Het
Kcp A G 6: 29,496,631 C627R probably damaging Het
Loxhd1 T C 18: 77,441,784 V2041A possibly damaging Het
Mcm5 T C 8: 75,119,301 M379T possibly damaging Het
Mcu A G 10: 59,467,758 S86P probably damaging Het
Naa25 T C 5: 121,408,337 probably null Het
Olfr1129 T A 2: 87,575,336 L84H possibly damaging Het
Olfr1472 A G 19: 13,454,053 S155P probably damaging Het
Osbpl9 T C 4: 109,071,961 H400R probably damaging Het
Pip5kl1 A G 2: 32,580,341 N278D probably damaging Het
Ppp1r12b T C 1: 134,836,020 T759A probably benign Het
Psg27 T C 7: 18,560,529 T318A probably benign Het
Rtkn2 T G 10: 68,041,721 L537R probably damaging Het
Sdr39u1 C T 14: 55,899,646 probably null Het
Sumf2 T A 5: 129,859,833 probably benign Het
Thsd7a A G 6: 12,324,681 Y1464H probably damaging Het
Unc80 C T 1: 66,671,718 probably benign Het
Zfp366 A G 13: 99,246,405 D692G 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
IGL01920:Slc38a1 APN 15 96586897 missense probably benign
IGL01993:Slc38a1 APN 15 96624046 missense probably damaging 1.00
IGL02201:Slc38a1 APN 15 96578798 missense probably damaging 1.00
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
R7987:Slc38a1 UTSW 15 96624040 missense possibly damaging 0.95
Posted On2016-08-02