Incidental Mutation 'IGL01993:Slc38a1'
ID 182059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a1
Ensembl Gene ENSMUSG00000023169
Gene Name solute carrier family 38, member 1
Synonyms SNAT1, NAT2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01993
Quality Score
Status
Chromosome 15
Chromosomal Location 96469299-96540794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96521927 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K2P7
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: 9,208,452 (GRCm39) probably benign Het
Acnat2 A T 4: 49,380,131 (GRCm39) S398T probably benign Het
Adgrb2 G T 4: 129,912,635 (GRCm39) E1296D possibly damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Anapc2 C A 2: 25,164,725 (GRCm39) D322E probably benign Het
Apobec1 A G 6: 122,565,138 (GRCm39) probably benign Het
Asic1 T C 15: 99,595,353 (GRCm39) V393A probably benign Het
Cfap65 A C 1: 74,959,702 (GRCm39) F816C probably damaging Het
Cfap69 A C 5: 5,631,284 (GRCm39) L914R probably damaging Het
Cgas A G 9: 78,349,802 (GRCm39) S187P probably benign Het
Cspg4 C T 9: 56,805,762 (GRCm39) T2191I probably benign Het
Cyp11a1 T A 9: 57,928,106 (GRCm39) I210N probably damaging Het
Dgkb T A 12: 38,032,009 (GRCm39) Y24N probably benign Het
Epc1 T C 18: 6,449,136 (GRCm39) T504A possibly damaging Het
Fam135a A T 1: 24,094,992 (GRCm39) D125E probably damaging Het
Fgd3 T C 13: 49,433,664 (GRCm39) H345R possibly damaging Het
Gm12253 T C 11: 58,325,379 (GRCm39) V17A probably damaging Het
Hars1 C T 18: 36,903,265 (GRCm39) G355D probably damaging Het
Hpgd A T 8: 56,772,097 (GRCm39) I190F probably benign Het
Ighv1-34 A T 12: 114,815,003 (GRCm39) M53K probably benign Het
Ildr2 A T 1: 166,096,939 (GRCm39) T53S possibly damaging Het
Ints5 T A 19: 8,872,829 (GRCm39) C263S probably benign Het
Lars2 T C 9: 123,224,008 (GRCm39) probably benign Het
Ldha G A 7: 46,504,524 (GRCm39) A349T possibly damaging Het
Map3k2 T A 18: 32,359,684 (GRCm39) C512* probably null Het
Parp4 G A 14: 56,848,245 (GRCm39) R687Q possibly damaging Het
Plk2 T C 13: 110,535,731 (GRCm39) S518P probably damaging Het
Prrc2b T G 2: 32,114,057 (GRCm39) V2036G possibly damaging Het
Psg16 T A 7: 16,827,631 (GRCm39) S196T probably benign Het
Psme3ip1 G T 8: 95,302,380 (GRCm39) A217D possibly damaging Het
Ranbp17 T C 11: 33,450,770 (GRCm39) T56A possibly damaging Het
Retsat T C 6: 72,581,978 (GRCm39) probably benign Het
Robo3 G T 9: 37,335,949 (GRCm39) L484I probably damaging Het
Septin4 G T 11: 87,458,555 (GRCm39) G310W possibly damaging Het
Slc17a6 T C 7: 51,317,705 (GRCm39) M446T possibly damaging Het
Tmem138 T C 19: 10,548,952 (GRCm39) N106S probably benign Het
Traf1 G A 2: 34,836,879 (GRCm39) probably benign Het
Tspan8 T C 10: 115,675,913 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,256 (GRCm39) E2615G probably damaging Het
Vwde A G 6: 13,219,977 (GRCm39) I58T possibly damaging Het
Zc3h12c A G 9: 52,027,611 (GRCm39) S603P probably damaging Het
Zfp746 A T 6: 48,059,092 (GRCm39) S172R probably damaging Het
Other mutations in Slc38a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Slc38a1 APN 15 96,483,504 (GRCm39) missense possibly damaging 0.89
IGL01376:Slc38a1 APN 15 96,483,437 (GRCm39) missense probably damaging 1.00
IGL01920:Slc38a1 APN 15 96,484,778 (GRCm39) missense probably benign
IGL02201:Slc38a1 APN 15 96,476,679 (GRCm39) missense probably damaging 1.00
IGL03074:Slc38a1 APN 15 96,490,405 (GRCm39) missense possibly damaging 0.72
IGL03370:Slc38a1 APN 15 96,477,228 (GRCm39) missense possibly damaging 0.93
R0918:Slc38a1 UTSW 15 96,507,743 (GRCm39) missense probably damaging 1.00
R1506:Slc38a1 UTSW 15 96,483,431 (GRCm39) missense probably benign 0.04
R1510:Slc38a1 UTSW 15 96,507,741 (GRCm39) missense probably damaging 1.00
R1713:Slc38a1 UTSW 15 96,476,641 (GRCm39) missense probably damaging 1.00
R1721:Slc38a1 UTSW 15 96,485,016 (GRCm39) missense probably damaging 1.00
R1867:Slc38a1 UTSW 15 96,485,016 (GRCm39) missense probably damaging 1.00
R4254:Slc38a1 UTSW 15 96,483,431 (GRCm39) missense probably benign 0.04
R4255:Slc38a1 UTSW 15 96,483,431 (GRCm39) missense probably benign 0.04
R4754:Slc38a1 UTSW 15 96,474,663 (GRCm39) missense probably damaging 0.98
R5548:Slc38a1 UTSW 15 96,488,355 (GRCm39) missense probably damaging 1.00
R5610:Slc38a1 UTSW 15 96,514,022 (GRCm39) critical splice donor site probably null
R6235:Slc38a1 UTSW 15 96,476,673 (GRCm39) missense probably benign 0.36
R6288:Slc38a1 UTSW 15 96,484,759 (GRCm39) missense probably benign 0.12
R7904:Slc38a1 UTSW 15 96,521,921 (GRCm39) missense possibly damaging 0.95
R8195:Slc38a1 UTSW 15 96,490,447 (GRCm39) missense probably benign 0.27
R8876:Slc38a1 UTSW 15 96,514,091 (GRCm39) missense possibly damaging 0.93
R9515:Slc38a1 UTSW 15 96,487,965 (GRCm39) missense probably damaging 1.00
R9555:Slc38a1 UTSW 15 96,486,860 (GRCm39) missense possibly damaging 0.83
Posted On 2014-05-07