Incidental Mutation 'R8221:Slc38a3'
ID 636697
Institutional Source Beutler Lab
Gene Symbol Slc38a3
Ensembl Gene ENSMUSG00000010064
Gene Name solute carrier family 38, member 3
Synonyms 0610012J02Rik, D9Ucla2, Snat3
MMRRC Submission 067639-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # R8221 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107528353-107546167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107534908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 156 (M156L)
Ref Sequence ENSEMBL: ENSMUSP00000010208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010208] [ENSMUST00000167868] [ENSMUST00000177567] [ENSMUST00000192323] [ENSMUST00000192990] [ENSMUST00000193932] [ENSMUST00000195843]
AlphaFold Q9DCP2
Predicted Effect probably damaging
Transcript: ENSMUST00000010208
AA Change: M156L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: M156L

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167868
AA Change: M156L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: M156L

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177567
AA Change: M156L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: M156L

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 5.5e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192211
Predicted Effect probably damaging
Transcript: ENSMUST00000192323
AA Change: M156L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141850
Gene: ENSMUSG00000010064
AA Change: M156L

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 damaging
Transcript: ENSMUST00000193932
AA Change: M156L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: M156L

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (74/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,576 (GRCm39) F134S probably damaging Het
Acsl5 T C 19: 55,257,262 (GRCm39) probably null Het
Adam29 G T 8: 56,325,463 (GRCm39) N330K probably benign Het
Adgrv1 A G 13: 81,677,033 (GRCm39) S1933P probably benign Het
Afap1l2 T C 19: 56,902,824 (GRCm39) H785R probably damaging Het
Ahnak T A 19: 8,987,800 (GRCm39) L3028* probably null Het
Ajuba T C 14: 54,807,847 (GRCm39) T462A possibly damaging Het
Ankrd36 A G 11: 5,534,016 (GRCm39) N289S possibly damaging Het
Ankrd46 A T 15: 36,486,001 (GRCm39) L84Q probably damaging Het
Ankrd54 T G 15: 78,940,270 (GRCm39) D163A probably damaging Het
Arhgef28 A G 13: 98,282,064 (GRCm39) L10P probably benign Het
Atm A T 9: 53,367,288 (GRCm39) probably null Het
Azin1 G C 15: 38,492,572 (GRCm39) F312L probably damaging Het
C2cd4c A G 10: 79,448,482 (GRCm39) S222P probably damaging Het
Cdyl A G 13: 36,000,147 (GRCm39) T143A probably benign Het
Clhc1 G A 11: 29,503,751 (GRCm39) V56I possibly damaging Het
Cntn4 T C 6: 106,486,471 (GRCm39) S300P probably benign Het
Col12a1 A G 9: 79,551,224 (GRCm39) Y2131H probably damaging Het
Cyp3a41b A G 5: 145,506,190 (GRCm39) S287P probably benign Het
Dctn4 A G 18: 60,689,401 (GRCm39) D424G probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dop1b A G 16: 93,546,847 (GRCm39) T284A probably benign Het
E330034G19Rik A C 14: 24,346,135 (GRCm39) probably null Het
Ehhadh G A 16: 21,581,373 (GRCm39) P540S possibly damaging Het
Emsy T C 7: 98,297,111 (GRCm39) E24G probably damaging Het
F930015N05Rik A C 11: 64,326,418 (GRCm39) L74W unknown Het
Fat1 A G 8: 45,406,390 (GRCm39) D1047G Het
Galnt7 A G 8: 58,005,600 (GRCm39) V211A possibly damaging Het
Gdap2 T C 3: 100,109,611 (GRCm39) C543R unknown Het
Ghr A C 15: 3,362,901 (GRCm39) D190E probably benign Het
Glrx A G 13: 75,995,346 (GRCm39) M89V probably benign Het
Gm10323 A C 13: 67,000,859 (GRCm39) Y91* noncoding transcript Het
Gnb4 A T 3: 32,644,184 (GRCm39) D153E possibly damaging Het
Gnptab G T 10: 88,276,254 (GRCm39) probably null Het
Grip2 T C 6: 91,762,665 (GRCm39) D193G possibly damaging Het
Igsf3 T C 3: 101,347,038 (GRCm39) W658R probably damaging Het
Ip6k1 T A 9: 107,923,115 (GRCm39) F416I probably benign Het
Klhl1 T G 14: 96,517,546 (GRCm39) T377P possibly damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lrrfip1 T C 1: 91,042,878 (GRCm39) S428P probably benign Het
Megf10 A G 18: 57,416,893 (GRCm39) D754G probably benign Het
Mrgprx2 T A 7: 48,132,527 (GRCm39) Y97F probably benign Het
Msantd2 T G 9: 37,400,684 (GRCm39) V22G probably damaging Het
Myl6b T C 10: 128,333,209 (GRCm39) K11R unknown Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Npas1 T C 7: 16,189,890 (GRCm39) E552G probably damaging Het
Pknox2 T C 9: 36,821,040 (GRCm39) N274S possibly damaging Het
Pmepa1 A T 2: 173,069,700 (GRCm39) L247Q probably damaging Het
Poll T C 19: 45,542,047 (GRCm39) K420E probably damaging Het
Polr2a A G 11: 69,628,344 (GRCm39) V1283A probably benign Het
Ppil4 A T 10: 7,671,444 (GRCm39) Y36F probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Psd2 C T 18: 36,113,478 (GRCm39) R317W probably damaging Het
Pspc1 T A 14: 57,015,616 (GRCm39) M1L probably benign Het
Qrsl1 A T 10: 43,758,080 (GRCm39) F338I possibly damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Sbno2 G A 10: 79,905,845 (GRCm39) P157L probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Setd3 C G 12: 108,073,612 (GRCm39) G555A possibly damaging Het
Slc12a4 A T 8: 106,678,601 (GRCm39) M245K probably benign Het
Slc1a5 T A 7: 16,515,902 (GRCm39) L26Q probably benign Het
Slc45a2 A T 15: 11,001,233 (GRCm39) I111F probably benign Het
Slc4a3 T A 1: 75,528,810 (GRCm39) M491K probably benign Het
Son A G 16: 91,453,734 (GRCm39) D827G probably damaging Het
Sppl2c A T 11: 104,077,710 (GRCm39) H170L probably damaging Het
St6gal2 T A 17: 55,797,935 (GRCm39) probably null Het
Taf4b T A 18: 15,031,106 (GRCm39) L830H probably damaging Het
Tex22 A G 12: 113,038,696 (GRCm39) probably null Het
Tiam2 C T 17: 3,568,860 (GRCm39) R1669C probably damaging Het
Tmprss15 T A 16: 78,821,223 (GRCm39) N506I probably damaging Het
Topors A T 4: 40,260,686 (GRCm39) I866K unknown Het
Trip12 G T 1: 84,743,771 (GRCm39) T512K possibly damaging Het
Ubr1 T A 2: 120,791,585 (GRCm39) H133L probably damaging Het
Wwtr1 T C 3: 57,366,441 (GRCm39) D422G probably damaging Het
Zfp689 A C 7: 127,043,758 (GRCm39) C291G probably damaging Het
Zfyve9 A G 4: 108,576,877 (GRCm39) L68P possibly damaging Het
Zswim5 G T 4: 116,735,219 (GRCm39) R188L 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
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'- GTGCTTGCCACCAGTCATAC -3'
(R):5'- TCCTCAAGTCTTCGGGGATTG -3'

Sequencing Primer
(F):5'- ACTTCTGCCTTGTCTATCACGGTAG -3'
(R):5'- TACGAGCAGTTGGGCTACC -3'
Posted On 2020-07-13