Incidental Mutation 'R8409:Slc38a3'
ID 652587
Institutional Source Beutler Lab
Gene Symbol Slc38a3
Ensembl Gene ENSMUSG00000010064
Gene Name solute carrier family 38, member 3
Synonyms 0610012J02Rik, D9Ucla2, Snat3
MMRRC Submission 067766-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # R8409 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107528353-107546167 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 107536454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010208] [ENSMUST00000167868] [ENSMUST00000177567] [ENSMUST00000192323] [ENSMUST00000192990] [ENSMUST00000193932] [ENSMUST00000195843]
AlphaFold Q9DCP2
Predicted Effect probably benign
Transcript: ENSMUST00000010208
SMART Domains Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167868
SMART Domains Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177567
SMART Domains Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 5.5e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192211
Predicted Effect probably benign
Transcript: ENSMUST00000192323
SMART Domains Protein: ENSMUSP00000141850
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 181 2.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192990
SMART Domains Protein: ENSMUSP00000141528
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 154 1.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193932
SMART Domains Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195739
Predicted Effect probably benign
Transcript: ENSMUST00000195843
SMART Domains Protein: ENSMUSP00000141552
Gene: ENSMUSG00000010064

DomainStartEndE-ValueType
Pfam:Aa_trans 63 99 6.4e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU allele exhibit complete postnatal lethality between P18 and P20, altered amino acid levels in the serum, liver and brain, and decreased ammonia excretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T G 5: 121,639,540 (GRCm39) N502H probably benign Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Bptf A T 11: 106,953,495 (GRCm39) S2082R probably damaging Het
Ccdc88a A G 11: 29,453,544 (GRCm39) T1636A probably benign Het
Cep83 C T 10: 94,573,839 (GRCm39) Q243* probably null Het
Dlg5 T G 14: 24,226,546 (GRCm39) E452A probably damaging Het
Dsg1a T A 18: 20,473,208 (GRCm39) D760E probably damaging Het
Elob G A 17: 24,043,933 (GRCm39) R89C probably benign Het
En2 T C 5: 28,371,882 (GRCm39) S120P probably benign Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Extl2 G T 3: 115,820,911 (GRCm39) V253F probably damaging Het
Fam217a T C 13: 35,100,881 (GRCm39) E92G probably benign Het
Fbxo25 A T 8: 13,964,999 (GRCm39) K17* probably null Het
Fig4 A T 10: 41,141,427 (GRCm39) S277R probably benign Het
Gphn T C 12: 78,659,784 (GRCm39) S429P probably damaging Het
Grm7 A G 6: 110,891,297 (GRCm39) I177V probably benign Het
H13 C T 2: 152,531,813 (GRCm39) P239L possibly damaging Het
Il12rb1 T A 8: 71,269,187 (GRCm39) S456T possibly damaging Het
Irgq A G 7: 24,233,209 (GRCm39) D350G probably benign Het
Isl2 T C 9: 55,449,784 (GRCm39) S118P possibly damaging Het
Itpka C T 2: 119,580,341 (GRCm39) R329C probably damaging Het
Itpripl1 G T 2: 126,982,686 (GRCm39) Q479K probably benign Het
Kbtbd2 T C 6: 56,757,341 (GRCm39) N132D probably damaging Het
Klb T C 5: 65,536,878 (GRCm39) V736A probably damaging Het
Klhl3 T C 13: 58,167,242 (GRCm39) D374G probably damaging Het
Mmp14 T A 14: 54,678,125 (GRCm39) V582D probably damaging Het
Naalad2 A G 9: 18,242,134 (GRCm39) V590A probably damaging Het
Or2n1d A G 17: 38,646,197 (GRCm39) T50A probably benign Het
Or51f1 A T 7: 102,506,477 (GRCm39) M4K probably benign Het
Or7h8 T G 9: 20,123,542 (GRCm39) probably benign Het
Pianp T C 6: 124,976,214 (GRCm39) S8P unknown Het
Ppbp T C 5: 90,916,486 (GRCm39) S9P probably damaging Het
Ppp4r3a A G 12: 101,008,752 (GRCm39) I696T probably benign Het
Psmd5 A G 2: 34,760,856 (GRCm39) S27P probably damaging Het
Ralgapa2 T A 2: 146,086,897 (GRCm39) R1561S Het
Rassf8 A G 6: 145,761,429 (GRCm39) T252A probably benign Het
Rpe65 T A 3: 159,319,785 (GRCm39) D218E probably benign Het
Sec23ip G A 7: 128,365,855 (GRCm39) V575I probably damaging Het
Slco6c1 C T 1: 97,003,663 (GRCm39) C495Y probably damaging Het
Speer4f2 C A 5: 17,582,419 (GRCm39) T214K Het
Stox1 A G 10: 62,501,795 (GRCm39) L255P probably benign Het
Sympk A G 7: 18,786,363 (GRCm39) M989V probably benign Het
Tia1 T A 6: 86,402,452 (GRCm39) Y202N possibly damaging Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Usp34 T C 11: 23,407,811 (GRCm39) S2593P Het
Vmn2r85 A G 10: 130,261,257 (GRCm39) V360A probably benign Het
Other mutations in Slc38a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Slc38a3 APN 9 107,535,876 (GRCm39) missense probably damaging 1.00
PIT4354001:Slc38a3 UTSW 9 107,534,848 (GRCm39) missense probably benign 0.01
R0522:Slc38a3 UTSW 9 107,532,412 (GRCm39) splice site probably null
R0865:Slc38a3 UTSW 9 107,532,847 (GRCm39) missense probably damaging 1.00
R0919:Slc38a3 UTSW 9 107,533,158 (GRCm39) missense probably damaging 1.00
R1265:Slc38a3 UTSW 9 107,529,185 (GRCm39) missense probably damaging 1.00
R1864:Slc38a3 UTSW 9 107,533,152 (GRCm39) missense probably damaging 1.00
R2919:Slc38a3 UTSW 9 107,534,886 (GRCm39) missense probably damaging 1.00
R4209:Slc38a3 UTSW 9 107,532,547 (GRCm39) missense possibly damaging 0.78
R4343:Slc38a3 UTSW 9 107,533,671 (GRCm39) missense possibly damaging 0.52
R4534:Slc38a3 UTSW 9 107,533,405 (GRCm39) missense probably benign 0.00
R4535:Slc38a3 UTSW 9 107,533,405 (GRCm39) missense probably benign 0.00
R4860:Slc38a3 UTSW 9 107,532,263 (GRCm39) missense probably damaging 1.00
R4860:Slc38a3 UTSW 9 107,532,263 (GRCm39) missense probably damaging 1.00
R4916:Slc38a3 UTSW 9 107,533,426 (GRCm39) missense probably benign
R5058:Slc38a3 UTSW 9 107,536,390 (GRCm39) missense possibly damaging 0.53
R5219:Slc38a3 UTSW 9 107,529,111 (GRCm39) unclassified probably benign
R5776:Slc38a3 UTSW 9 107,535,948 (GRCm39) nonsense probably null
R6029:Slc38a3 UTSW 9 107,529,374 (GRCm39) missense probably damaging 1.00
R6146:Slc38a3 UTSW 9 107,532,228 (GRCm39) missense probably benign
R6292:Slc38a3 UTSW 9 107,532,353 (GRCm39) missense possibly damaging 0.88
R7250:Slc38a3 UTSW 9 107,533,865 (GRCm39) missense probably benign 0.31
R8221:Slc38a3 UTSW 9 107,534,908 (GRCm39) missense probably damaging 0.99
R8805:Slc38a3 UTSW 9 107,532,345 (GRCm39) missense probably benign 0.01
R8823:Slc38a3 UTSW 9 107,533,150 (GRCm39) missense probably damaging 1.00
R9486:Slc38a3 UTSW 9 107,536,322 (GRCm39) missense probably benign 0.02
R9624:Slc38a3 UTSW 9 107,532,510 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAGTGTTGGGTGTCTTC -3'
(R):5'- ATGCGGGAGAGTTAATGTCC -3'

Sequencing Primer
(F):5'- GACTCTTGGACCTCTGCCCAAG -3'
(R):5'- GGAGAGTTAATGTCCTGTCCCATC -3'
Posted On 2020-10-20