Incidental Mutation 'R5058:Slc38a3'
ID 391031
Institutional Source Beutler Lab
Gene Symbol Slc38a3
Ensembl Gene ENSMUSG00000010064
Gene Name solute carrier family 38, member 3
Synonyms 0610012J02Rik, D9Ucla2, Snat3
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107528353-107546167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107536390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2 (E2G)
Ref Sequence ENSEMBL: ENSMUSP00000142087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010208] [ENSMUST00000167868] [ENSMUST00000177567] [ENSMUST00000192323] [ENSMUST00000195843] [ENSMUST00000192990] [ENSMUST00000193932]
AlphaFold Q9DCP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000010208
AA Change: E2G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167868
AA Change: E2G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177567
AA Change: E2G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 5.5e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191923
Predicted Effect probably benign
Transcript: ENSMUST00000192211
Predicted Effect possibly damaging
Transcript: ENSMUST00000192323
AA Change: E2G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141850
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 181 2.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195843
AA Change: E2G

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141552
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 99 6.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192990
AA Change: E2G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141528
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 154 1.7e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000193932
AA Change: E2G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: E2G

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195033
Predicted Effect probably benign
Transcript: ENSMUST00000195739
Meta Mutation Damage Score 0.0679 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging 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
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
R8409:Slc38a3 UTSW 9 107,536,454 (GRCm39) splice site probably benign
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'- TCTCCACAGTGTTGGGTGTC -3'
(R):5'- AAGGAAGTGCCAAGTCCCAG -3'

Sequencing Primer
(F):5'- TCCTGTAAGAGGAGGCCAGC -3'
(R):5'- AAGTCCCAGTGAGCTTTCATG -3'
Posted On 2016-06-06