Incidental Mutation 'R1973:Slc38a4'
ID 221301
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 039986-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R1973 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 96892701-96953837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96897478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 446 (K446E)
Ref Sequence ENSEMBL: ENSMUSP00000155158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023101] [ENSMUST00000166223] [ENSMUST00000230086] [ENSMUST00000231039]
AlphaFold Q8R1S9
Predicted Effect probably benign
Transcript: ENSMUST00000023101
AA Change: K446E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: K446E

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: K446E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: K446E

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: K446E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000231039
AA Change: K446E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A C 5: 8,862,746 (GRCm39) I143L probably benign Het
Acp7 T A 7: 28,307,414 (GRCm39) D481V probably damaging Het
AI597479 T A 1: 43,150,286 (GRCm39) I132K probably benign Het
Anxa13 T C 15: 58,228,030 (GRCm39) noncoding transcript Het
Brca1 A T 11: 101,417,229 (GRCm39) C302S probably benign Het
Brd8 T A 18: 34,741,066 (GRCm39) D420V probably damaging Het
Cacna1g A T 11: 94,350,603 (GRCm39) V414E possibly damaging Het
Ccdc142 T A 6: 83,079,544 (GRCm39) C294S probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chd6 A G 2: 160,808,307 (GRCm39) S1636P probably damaging Het
Clec4a1 A G 6: 122,901,793 (GRCm39) probably null Het
Col6a3 A T 1: 90,731,897 (GRCm39) I1452N probably damaging Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Efl1 T C 7: 82,412,085 (GRCm39) S825P probably damaging Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Faxc G A 4: 21,993,405 (GRCm39) E350K probably benign Het
Frem2 T A 3: 53,559,653 (GRCm39) Y1618F probably benign Het
Fubp3 A G 2: 31,493,298 (GRCm39) T6A probably benign Het
Gm5814 A T 17: 47,721,474 (GRCm39) M63L probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,281 (GRCm39) V359A probably damaging Het
Kit G A 5: 75,776,102 (GRCm39) A295T probably damaging Het
Krt77 G T 15: 101,769,679 (GRCm39) A397E probably damaging Het
Mis18bp1 G C 12: 65,195,850 (GRCm39) S638* probably null Het
Neurl4 C T 11: 69,800,118 (GRCm39) P1091S probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nos1 A G 5: 118,074,491 (GRCm39) T1046A possibly damaging Het
Nsfl1c G T 2: 151,347,334 (GRCm39) S202I probably damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Nwd1 T C 8: 73,431,590 (GRCm39) V1195A possibly damaging Het
Or10k2 T C 8: 84,268,421 (GRCm39) V216A probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or52a20 T A 7: 103,365,804 (GRCm39) M1K probably null Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Or8g51 A G 9: 38,609,164 (GRCm39) V170A probably damaging Het
Pclo G T 5: 14,726,073 (GRCm39) probably null Het
Pnpla7 A G 2: 24,906,629 (GRCm39) D664G probably damaging Het
Prl8a1 G A 13: 27,760,917 (GRCm39) T105I probably benign Het
Ptger1 C A 8: 84,396,083 (GRCm39) T380K probably benign Het
Ptk7 G A 17: 46,897,733 (GRCm39) Q282* probably null Het
Ptpn18 G T 1: 34,502,190 (GRCm39) D45Y probably damaging Het
Rab11fip3 T C 17: 26,243,365 (GRCm39) D589G probably damaging Het
Rara A G 11: 98,862,496 (GRCm39) N299S possibly damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Rslcan18 T C 13: 67,256,087 (GRCm39) probably benign Het
Rtel1 A G 2: 180,993,419 (GRCm39) Y731C probably benign Het
Sec16a A T 2: 26,316,501 (GRCm39) S1666R probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc10a7 T A 8: 79,423,962 (GRCm39) probably null Het
Slc22a7 A G 17: 46,748,016 (GRCm39) V214A probably damaging Het
Slc26a8 T C 17: 28,882,579 (GRCm39) I249V probably benign Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spef2 T G 15: 9,663,152 (GRCm39) *876C probably null Het
Spink11 A G 18: 44,329,205 (GRCm39) C14R unknown Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tnfaip3 T C 10: 18,880,252 (GRCm39) N605S probably damaging Het
Trpc1 A G 9: 95,605,308 (GRCm39) M283T probably benign Het
Ttn A G 2: 76,544,706 (GRCm39) S32799P probably damaging Het
Ttn A G 2: 76,550,443 (GRCm39) I31613T probably damaging Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Usp32 G T 11: 84,994,757 (GRCm39) L52I probably benign Het
Usp33 A G 3: 152,065,923 (GRCm39) T68A possibly damaging Het
Vmn1r7 A G 6: 57,002,011 (GRCm39) F83S probably benign Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vps26c T C 16: 94,302,405 (GRCm39) N267S probably damaging Het
Wdr43 A G 17: 71,947,235 (GRCm39) N364D probably benign Het
Zdbf2 C A 1: 63,348,860 (GRCm39) P2413Q 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
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
Predicted Primers PCR Primer
(F):5'- GAGCCCTGTCTACACTGCTC -3'
(R):5'- CGCGTGATATGCAACCAAGG -3'

Sequencing Primer
(F):5'- CCGTCTCCGTATTTGCCATTTAAGG -3'
(R):5'- TCGGCATGAAGTTTGCACAGC -3'
Posted On 2014-08-25