Incidental Mutation 'IGL00090:Slc38a4'
ID 893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a4
Ensembl Gene ENSMUSG00000022464
Gene Name solute carrier family 38, member 4
Synonyms Ata3, SNAT4, 1700012A18Rik, 1110012E16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # IGL00090
Quality Score
Status
Chromosome 15
Chromosomal Location 96892701-96953837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96917690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 12 (E12K)
Ref Sequence ENSEMBL: ENSMUSP00000155372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023101] [ENSMUST00000166223] [ENSMUST00000230086] [ENSMUST00000230907] [ENSMUST00000231039]
AlphaFold Q8R1S9
Predicted Effect probably benign
Transcript: ENSMUST00000023101
AA Change: E12K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: E12K

DomainStartEndE-ValueType
Pfam:Aa_trans 73 263 4.9e-38 PFAM
Pfam:Aa_trans 302 535 2.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166223
AA Change: E12K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: E12K

DomainStartEndE-ValueType
Pfam:Aa_trans 73 262 2.5e-38 PFAM
Pfam:Aa_trans 303 535 2.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230086
AA Change: E12K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230907
AA Change: E12K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000231039
AA Change: E12K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Slc38a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Slc38a4 APN 15 96,897,375 (GRCm39) missense probably damaging 0.99
IGL00974:Slc38a4 APN 15 96,897,397 (GRCm39) missense probably benign 0.05
IGL01951:Slc38a4 APN 15 96,917,644 (GRCm39) missense probably benign 0.07
R0012:Slc38a4 UTSW 15 96,897,510 (GRCm39) missense probably damaging 1.00
R0012:Slc38a4 UTSW 15 96,897,510 (GRCm39) missense probably damaging 1.00
R0165:Slc38a4 UTSW 15 96,906,830 (GRCm39) missense probably benign 0.00
R0304:Slc38a4 UTSW 15 96,906,335 (GRCm39) missense probably damaging 1.00
R0543:Slc38a4 UTSW 15 96,914,720 (GRCm39) missense possibly damaging 0.52
R0973:Slc38a4 UTSW 15 96,903,739 (GRCm39) missense probably benign 0.04
R0973:Slc38a4 UTSW 15 96,903,739 (GRCm39) missense probably benign 0.04
R0974:Slc38a4 UTSW 15 96,903,739 (GRCm39) missense probably benign 0.04
R1340:Slc38a4 UTSW 15 96,908,153 (GRCm39) splice site probably benign
R1973:Slc38a4 UTSW 15 96,897,478 (GRCm39) missense probably benign 0.36
R2058:Slc38a4 UTSW 15 96,906,606 (GRCm39) missense probably benign 0.22
R2083:Slc38a4 UTSW 15 96,906,874 (GRCm39) missense probably benign 0.00
R2108:Slc38a4 UTSW 15 96,906,878 (GRCm39) missense probably benign
R3908:Slc38a4 UTSW 15 96,910,875 (GRCm39) critical splice acceptor site probably null
R4037:Slc38a4 UTSW 15 96,894,923 (GRCm39) missense probably benign 0.03
R4259:Slc38a4 UTSW 15 96,896,374 (GRCm39) missense probably damaging 1.00
R4260:Slc38a4 UTSW 15 96,896,374 (GRCm39) missense probably damaging 1.00
R4261:Slc38a4 UTSW 15 96,896,374 (GRCm39) missense probably damaging 1.00
R4370:Slc38a4 UTSW 15 96,906,965 (GRCm39) missense possibly damaging 0.48
R4435:Slc38a4 UTSW 15 96,906,899 (GRCm39) missense probably benign
R5289:Slc38a4 UTSW 15 96,908,229 (GRCm39) missense possibly damaging 0.72
R5638:Slc38a4 UTSW 15 96,910,871 (GRCm39) missense probably damaging 0.99
R5893:Slc38a4 UTSW 15 96,897,432 (GRCm39) missense probably benign 0.23
R7059:Slc38a4 UTSW 15 96,906,895 (GRCm39) nonsense probably null
R7223:Slc38a4 UTSW 15 96,908,226 (GRCm39) missense probably damaging 1.00
R7267:Slc38a4 UTSW 15 96,903,781 (GRCm39) missense probably benign 0.01
R7768:Slc38a4 UTSW 15 96,906,545 (GRCm39) missense probably damaging 1.00
R7903:Slc38a4 UTSW 15 96,906,809 (GRCm39) missense probably benign 0.03
R8314:Slc38a4 UTSW 15 96,908,190 (GRCm39) missense probably benign 0.10
R8385:Slc38a4 UTSW 15 96,897,393 (GRCm39) missense probably damaging 1.00
R8822:Slc38a4 UTSW 15 96,906,952 (GRCm39) missense probably benign 0.12
R8955:Slc38a4 UTSW 15 96,914,662 (GRCm39) missense probably benign
R8962:Slc38a4 UTSW 15 96,917,684 (GRCm39) missense probably benign 0.00
R9000:Slc38a4 UTSW 15 96,897,475 (GRCm39) missense possibly damaging 0.48
R9043:Slc38a4 UTSW 15 96,906,805 (GRCm39) missense possibly damaging 0.93
R9760:Slc38a4 UTSW 15 96,896,332 (GRCm39) missense probably damaging 1.00
R9786:Slc38a4 UTSW 15 96,906,378 (GRCm39) missense probably damaging 0.99
Posted On 2011-07-12