Incidental Mutation 'R0165:Slc38a4'
ID 24130
Institutional Source Beutler Lab
Gene Symbol Slc38a4
Ensembl Gene ENSMUSG00000022464
Gene Name solute carrier family 38, member 4
Synonyms 1700012A18Rik, Ata3, 1110012E16Rik
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R0165 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 96994820-97055956 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97008949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 303 (A303S)
Ref Sequence ENSEMBL: ENSMUSP00000155158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023101] [ENSMUST00000166223] [ENSMUST00000230086] [ENSMUST00000230907] [ENSMUST00000231039]
AlphaFold Q8R1S9
Predicted Effect probably benign
Transcript: ENSMUST00000023101
AA Change: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: A303S

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: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: A303S

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: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000230907
Predicted Effect probably benign
Transcript: ENSMUST00000231039
AA Change: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,216,382 (GRCm38) V1413M probably damaging Het
2700049A03Rik T C 12: 71,167,150 (GRCm38) I717T possibly damaging Het
3632451O06Rik A G 14: 49,773,786 (GRCm38) S155P probably benign Het
6430571L13Rik A G 9: 107,346,184 (GRCm38) probably benign Het
Abca15 T A 7: 120,350,903 (GRCm38) probably benign Het
Abca6 A G 11: 110,219,604 (GRCm38) V573A possibly damaging Het
Adgrl2 A G 3: 148,852,863 (GRCm38) probably benign Het
Agap3 A G 5: 24,479,745 (GRCm38) T544A probably damaging Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Akr1c20 T C 13: 4,523,296 (GRCm38) T7A probably benign Het
Ankrd26 A G 6: 118,540,484 (GRCm38) S459P probably benign Het
Ascc3 T A 10: 50,842,127 (GRCm38) probably null Het
Brd1 T C 15: 88,729,777 (GRCm38) N305S probably damaging Het
Catip T A 1: 74,368,469 (GRCm38) L320Q possibly damaging Het
Cttnbp2 G A 6: 18,435,410 (GRCm38) Q150* probably null Het
Cyp2d22 T G 15: 82,373,280 (GRCm38) N228T probably benign Het
Dapk1 T C 13: 60,761,593 (GRCm38) V1340A probably benign Het
Dcaf4 G A 12: 83,535,988 (GRCm38) probably benign Het
Ddhd1 G A 14: 45,595,592 (GRCm38) T849M probably damaging Het
Dnah6 A G 6: 73,021,323 (GRCm38) S3987P probably benign Het
Dst C A 1: 34,154,646 (GRCm38) probably benign Het
Epha2 T C 4: 141,321,892 (GRCm38) probably null Het
Ern2 T C 7: 122,179,779 (GRCm38) T281A probably benign Het
Extl1 A G 4: 134,357,703 (GRCm38) F652S probably damaging Het
Gckr A G 5: 31,326,948 (GRCm38) S541G possibly damaging Het
Gdap1l1 A G 2: 163,451,499 (GRCm38) probably null Het
Gm7535 T C 17: 17,911,175 (GRCm38) probably benign Het
Gmps T A 3: 63,993,954 (GRCm38) I398N probably damaging Het
Igf2r A G 17: 12,698,527 (GRCm38) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 109,675,366 (GRCm38) probably benign Het
Lama3 A T 18: 12,524,810 (GRCm38) I1934F probably damaging Het
Lars A T 18: 42,202,697 (GRCm38) M1118K possibly damaging Het
Lpin2 C T 17: 71,246,519 (GRCm38) S846L probably damaging Het
Lrrc4b C A 7: 44,462,315 (GRCm38) T537K probably damaging Het
Ltn1 G A 16: 87,405,519 (GRCm38) probably benign Het
Meiob A G 17: 24,835,161 (GRCm38) T401A probably benign Het
Mettl21e G A 1: 44,211,123 (GRCm38) T41M probably damaging Het
Miga1 C T 3: 152,290,843 (GRCm38) E323K probably damaging Het
Ndufs1 A T 1: 63,159,748 (GRCm38) probably null Het
Olfr486 T C 7: 108,172,675 (GRCm38) D23G probably benign Het
Otog G A 7: 46,304,231 (GRCm38) V2638M probably damaging Het
Parp6 T C 9: 59,632,925 (GRCm38) Y274H probably damaging Het
Prom2 A T 2: 127,539,514 (GRCm38) probably benign Het
Prune2 T A 19: 17,122,610 (GRCm38) M1826K probably benign Het
Qk T A 17: 10,238,963 (GRCm38) D159V probably damaging Het
Rab12 A T 17: 66,500,317 (GRCm38) I139N probably damaging Het
Rab25 T A 3: 88,548,055 (GRCm38) E7D probably benign Het
Rala A T 13: 17,888,589 (GRCm38) V139E probably benign Het
Ralgapa2 A G 2: 146,388,487 (GRCm38) probably benign Het
Rbl2 T A 8: 91,074,176 (GRCm38) Y89N probably damaging Het
Rho A T 6: 115,932,227 (GRCm38) I75F probably damaging Het
Slc6a15 A G 10: 103,409,809 (GRCm38) D551G probably null Het
Smyd3 T C 1: 179,043,872 (GRCm38) N314S probably benign Het
Speer4f1 T A 5: 17,479,514 (GRCm38) L180* probably null Het
Stat6 T C 10: 127,657,227 (GRCm38) V576A probably damaging Het
Strn T C 17: 78,677,374 (GRCm38) D127G possibly damaging Het
Syne1 T C 10: 5,033,096 (GRCm38) R8610G probably benign Het
Tbc1d7 A C 13: 43,153,202 (GRCm38) probably null Het
Tcf3 C T 10: 80,412,997 (GRCm38) R548Q probably damaging Het
Tlr9 C A 9: 106,226,087 (GRCm38) A859D probably benign Het
Tmem106c T A 15: 97,968,139 (GRCm38) probably benign Het
Tmprss11c A T 5: 86,231,927 (GRCm38) probably benign Het
Tnfsf18 A G 1: 161,494,731 (GRCm38) R7G probably benign Het
Tnrc6b T A 15: 80,858,670 (GRCm38) probably null Het
Trpm7 A T 2: 126,797,513 (GRCm38) F1684I probably damaging Het
Ttbk1 C A 17: 46,478,938 (GRCm38) R133L possibly damaging Het
Ttn A G 2: 76,721,342 (GRCm38) S22962P probably damaging Het
Ube2q1 T A 3: 89,776,153 (GRCm38) L135Q probably damaging Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Vwce T C 19: 10,659,973 (GRCm38) probably benign Het
Wdhd1 A G 14: 47,267,068 (GRCm38) S350P probably benign Het
Zbtb21 A G 16: 97,951,404 (GRCm38) S560P probably damaging Het
Other mutations in Slc38a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Slc38a4 APN 15 97,019,809 (GRCm38) missense probably benign 0.01
IGL00229:Slc38a4 APN 15 96,999,494 (GRCm38) missense probably damaging 0.99
IGL00974:Slc38a4 APN 15 96,999,516 (GRCm38) missense probably benign 0.05
IGL01951:Slc38a4 APN 15 97,019,763 (GRCm38) missense probably benign 0.07
R0012:Slc38a4 UTSW 15 96,999,629 (GRCm38) missense probably damaging 1.00
R0012:Slc38a4 UTSW 15 96,999,629 (GRCm38) missense probably damaging 1.00
R0304:Slc38a4 UTSW 15 97,008,454 (GRCm38) missense probably damaging 1.00
R0543:Slc38a4 UTSW 15 97,016,839 (GRCm38) missense possibly damaging 0.52
R0973:Slc38a4 UTSW 15 97,005,858 (GRCm38) missense probably benign 0.04
R0973:Slc38a4 UTSW 15 97,005,858 (GRCm38) missense probably benign 0.04
R0974:Slc38a4 UTSW 15 97,005,858 (GRCm38) missense probably benign 0.04
R1340:Slc38a4 UTSW 15 97,010,272 (GRCm38) splice site probably benign
R1973:Slc38a4 UTSW 15 96,999,597 (GRCm38) missense probably benign 0.36
R2058:Slc38a4 UTSW 15 97,008,725 (GRCm38) missense probably benign 0.22
R2083:Slc38a4 UTSW 15 97,008,993 (GRCm38) missense probably benign 0.00
R2108:Slc38a4 UTSW 15 97,008,997 (GRCm38) missense probably benign
R3908:Slc38a4 UTSW 15 97,012,994 (GRCm38) critical splice acceptor site probably null
R4037:Slc38a4 UTSW 15 96,997,042 (GRCm38) missense probably benign 0.03
R4259:Slc38a4 UTSW 15 96,998,493 (GRCm38) missense probably damaging 1.00
R4260:Slc38a4 UTSW 15 96,998,493 (GRCm38) missense probably damaging 1.00
R4261:Slc38a4 UTSW 15 96,998,493 (GRCm38) missense probably damaging 1.00
R4370:Slc38a4 UTSW 15 97,009,084 (GRCm38) missense possibly damaging 0.48
R4435:Slc38a4 UTSW 15 97,009,018 (GRCm38) missense probably benign
R5289:Slc38a4 UTSW 15 97,010,348 (GRCm38) missense possibly damaging 0.72
R5638:Slc38a4 UTSW 15 97,012,990 (GRCm38) missense probably damaging 0.99
R5893:Slc38a4 UTSW 15 96,999,551 (GRCm38) missense probably benign 0.23
R7059:Slc38a4 UTSW 15 97,009,014 (GRCm38) nonsense probably null
R7223:Slc38a4 UTSW 15 97,010,345 (GRCm38) missense probably damaging 1.00
R7267:Slc38a4 UTSW 15 97,005,900 (GRCm38) missense probably benign 0.01
R7768:Slc38a4 UTSW 15 97,008,664 (GRCm38) missense probably damaging 1.00
R7903:Slc38a4 UTSW 15 97,008,928 (GRCm38) missense probably benign 0.03
R8314:Slc38a4 UTSW 15 97,010,309 (GRCm38) missense probably benign 0.10
R8385:Slc38a4 UTSW 15 96,999,512 (GRCm38) missense probably damaging 1.00
R8822:Slc38a4 UTSW 15 97,009,071 (GRCm38) missense probably benign 0.12
R8955:Slc38a4 UTSW 15 97,016,781 (GRCm38) missense probably benign
R8962:Slc38a4 UTSW 15 97,019,803 (GRCm38) missense probably benign 0.00
R9000:Slc38a4 UTSW 15 96,999,594 (GRCm38) missense possibly damaging 0.48
R9043:Slc38a4 UTSW 15 97,008,924 (GRCm38) missense possibly damaging 0.93
R9760:Slc38a4 UTSW 15 96,998,451 (GRCm38) missense probably damaging 1.00
R9786:Slc38a4 UTSW 15 97,008,497 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGCTGCCTTACTCTTTAAGCTCG -3'
(R):5'- TGCCTGCTCTGGATCACAACAAC -3'

Sequencing Primer
(F):5'- TGCATAGGCCGTCTGTAAAAC -3'
(R):5'- AACAACGGAAATCTGACGTTC -3'
Posted On 2013-04-16