Incidental Mutation 'IGL01993:Slc38a1'
ID182059
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 #IGL01993
Quality Score
Status
Chromosome15
Chromosomal Location96571418-96642913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 96624046 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 11 (T11M)
Ref Sequence ENSEMBL: ENSMUSP00000155160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088452] [ENSMUST00000088454] [ENSMUST00000100262] [ENSMUST00000230767]
Predicted Effect probably damaging
Transcript: ENSMUST00000088452
AA Change: T11M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: T11M

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 6.1e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088454
AA Change: T11M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: T11M

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100262
AA Change: T11M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: T11M

DomainStartEndE-ValueType
Pfam:Aa_trans 69 473 5.8e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230756
Predicted Effect probably damaging
Transcript: ENSMUST00000230767
AA Change: T11M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,258,452 probably benign Het
Acnat2 A T 4: 49,380,131 S398T probably benign Het
Adgrb2 G T 4: 130,018,842 E1296D possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Anapc2 C A 2: 25,274,713 D322E probably benign Het
Apobec1 A G 6: 122,588,179 probably benign Het
Asic1 T C 15: 99,697,472 V393A probably benign Het
Cfap65 A C 1: 74,920,543 F816C probably damaging Het
Cfap69 A C 5: 5,581,284 L914R probably damaging Het
Cspg4 C T 9: 56,898,478 T2191I probably benign Het
Cyp11a1 T A 9: 58,020,823 I210N probably damaging Het
Dgkb T A 12: 37,982,010 Y24N probably benign Het
Epc1 T C 18: 6,449,136 T504A possibly damaging Het
Fam135a A T 1: 24,055,911 D125E probably damaging Het
Fam192a G T 8: 94,575,752 A217D possibly damaging Het
Fgd3 T C 13: 49,280,188 H345R possibly damaging Het
Gm11492 G T 11: 87,567,729 G310W possibly damaging Het
Gm12253 T C 11: 58,434,553 V17A probably damaging Het
Hars C T 18: 36,770,212 G355D probably damaging Het
Hpgd A T 8: 56,319,062 I190F probably benign Het
Ighv1-34 A T 12: 114,851,383 M53K probably benign Het
Ildr2 A T 1: 166,269,370 T53S possibly damaging Het
Ints5 T A 19: 8,895,465 C263S probably benign Het
Lars2 T C 9: 123,394,943 probably benign Het
Ldha G A 7: 46,855,100 A349T possibly damaging Het
Map3k2 T A 18: 32,226,631 C512* probably null Het
Mb21d1 A G 9: 78,442,520 S187P probably benign Het
Parp4 G A 14: 56,610,788 R687Q possibly damaging Het
Plk2 T C 13: 110,399,197 S518P probably damaging Het
Prrc2b T G 2: 32,224,045 V2036G possibly damaging Het
Psg16 T A 7: 17,093,706 S196T probably benign Het
Ranbp17 T C 11: 33,500,770 T56A possibly damaging Het
Retsat T C 6: 72,604,995 probably benign Het
Robo3 G T 9: 37,424,653 L484I probably damaging Het
Slc17a6 T C 7: 51,667,957 M446T possibly damaging Het
Tmem138 T C 19: 10,571,588 N106S probably benign Het
Traf1 G A 2: 34,946,867 probably benign Het
Tspan8 T C 10: 115,840,008 probably benign Het
Ubr5 T C 15: 37,973,012 E2615G probably damaging Het
Vwde A G 6: 13,219,978 I58T possibly damaging Het
Zc3h12c A G 9: 52,116,311 S603P probably damaging Het
Zfp746 A T 6: 48,082,158 S172R 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
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