Incidental Mutation 'R5289:Slc38a4'
ID 424613
Institutional Source Beutler Lab
Gene Symbol Slc38a4
Ensembl Gene ENSMUSG00000022464
Gene Name solute carrier family 38, member 4
Synonyms Ata3, SNAT4, 1700012A18Rik, 1110012E16Rik
MMRRC Submission 042872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R5289 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 96892701-96953837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96908229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 171 (F171I)
Ref Sequence ENSEMBL: ENSMUSP00000155158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023101] [ENSMUST00000166223] [ENSMUST00000230086] [ENSMUST00000230907] [ENSMUST00000231039]
AlphaFold Q8R1S9
Predicted Effect possibly damaging
Transcript: ENSMUST00000023101
AA Change: F171I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: F171I

DomainStartEndE-ValueType
Pfam:Aa_trans 73 263 4.9e-38 PFAM
Pfam:Aa_trans 302 535 2.1e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166223
AA Change: F171I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: F171I

DomainStartEndE-ValueType
Pfam:Aa_trans 73 262 2.5e-38 PFAM
Pfam:Aa_trans 303 535 2.5e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000230086
AA Change: F171I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000230907
Predicted Effect possibly damaging
Transcript: ENSMUST00000231039
AA Change: F171I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,669,203 (GRCm39) V1731A probably benign Het
Ahcyl1 A G 3: 107,577,206 (GRCm39) probably null Het
Aox1 T A 1: 58,131,717 (GRCm39) M1042K probably damaging Het
Atp10d C A 5: 72,412,466 (GRCm39) Q590K probably benign Het
Atp8b1 G T 18: 64,679,158 (GRCm39) N774K possibly damaging Het
Atrnl1 C T 19: 57,645,514 (GRCm39) T458M probably damaging Het
Bltp1 C A 3: 37,054,258 (GRCm39) Q3126K probably damaging Het
Cnr1 T A 4: 33,943,910 (GRCm39) C99* probably null Het
Cnr2 A G 4: 135,644,318 (GRCm39) Y132C probably damaging Het
Commd9 C T 2: 101,729,239 (GRCm39) A115V probably benign Het
Diaph3 A G 14: 87,219,114 (GRCm39) F426S probably damaging Het
Diras1 G A 10: 80,858,078 (GRCm39) Q58* probably null Het
Dnaaf6rt A T 1: 31,262,608 (GRCm39) I197F probably benign Het
Dpy19l2 A G 9: 24,607,293 (GRCm39) L56P probably benign Het
Dsc1 A T 18: 20,234,910 (GRCm39) V248D possibly damaging Het
Frem3 A G 8: 81,338,948 (GRCm39) M414V probably benign Het
Frmd4b G T 6: 97,279,309 (GRCm39) probably null Het
Gabarapl2 T C 8: 112,669,227 (GRCm39) W62R probably damaging Het
Glt1d1 A G 5: 127,721,420 (GRCm39) R36G probably benign Het
Grb10 T C 11: 11,894,924 (GRCm39) silent Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hc A G 2: 34,886,026 (GRCm39) probably null Het
Hgd A G 16: 37,448,913 (GRCm39) E379G possibly damaging Het
Ifi30 A T 8: 71,219,245 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,388,472 (GRCm39) I842V possibly damaging Het
Iqsec3 T A 6: 121,363,659 (GRCm39) probably null Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Lama2 C A 10: 27,088,069 (GRCm39) G903* probably null Het
Lrrc10 T C 10: 116,881,392 (GRCm39) V22A probably benign Het
Lzts3 T C 2: 130,478,021 (GRCm39) E245G probably benign Het
Man2a1 A G 17: 64,958,222 (GRCm39) T246A probably damaging Het
Mfsd13a A G 19: 46,356,719 (GRCm39) E240G probably benign Het
Mtor T C 4: 148,550,549 (GRCm39) I735T possibly damaging Het
Naa15 A T 3: 51,363,315 (GRCm39) H333L probably damaging Het
Nes C A 3: 87,885,725 (GRCm39) T1284K probably damaging Het
Nexn T G 3: 151,953,709 (GRCm39) H173P probably benign Het
Nid2 T C 14: 19,855,379 (GRCm39) V1173A possibly damaging Het
Npepps A G 11: 97,131,753 (GRCm39) probably null Het
Pgm1 T A 4: 99,824,266 (GRCm39) M313K probably damaging Het
Plag1 T A 4: 3,905,545 (GRCm39) K48N probably damaging Het
Prok1 G C 3: 107,146,935 (GRCm39) L11V probably benign Het
Ptpn9 T C 9: 56,967,347 (GRCm39) probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sycp1 A T 3: 102,841,569 (GRCm39) N78K possibly damaging Het
Tas2r110 T C 6: 132,844,972 (GRCm39) M1T probably null Het
Thoc2l G A 5: 104,667,523 (GRCm39) V682I probably benign Het
Tmem260 G A 14: 48,724,267 (GRCm39) V182M possibly damaging Het
Tmem30a A T 9: 79,683,436 (GRCm39) N144K probably damaging Het
Vmn2r108 A G 17: 20,691,866 (GRCm39) L219P probably damaging Het
Vmn2r57 A G 7: 41,049,398 (GRCm39) S784P probably damaging Het
Vwf T C 6: 125,644,473 (GRCm39) probably benign Het
Wdr62 A C 7: 29,967,300 (GRCm39) V318G probably damaging Het
Zfp398 T A 6: 47,840,115 (GRCm39) S115T probably benign Het
Zfp62 T A 11: 49,107,975 (GRCm39) C689S probably damaging Het
Zmynd15 C G 11: 70,356,830 (GRCm39) P580R unknown Het
Other mutations in Slc38a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Slc38a4 APN 15 96,917,690 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GTTGCCGTTGAGGTACCATTC -3'
(R):5'- CAGACGTCTGCTTATGAAGGG -3'

Sequencing Primer
(F):5'- CGTTGAGGTACCATTCCCTAGAAAAG -3'
(R):5'- TACAGAGTACATGGGGCCTTCTC -3'
Posted On 2016-08-04