Incidental Mutation 'R4860:Slc38a3'
ID372427
Institutional Source Beutler Lab
Gene Symbol Slc38a3
Ensembl Gene ENSMUSG00000010064
Gene Namesolute carrier family 38, member 3
SynonymsSnat3, 0610012J02Rik, D9Ucla2
MMRRC Submission 042471-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.579) question?
Stock #R4860 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location107650634-107669530 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107655064 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 423 (V423A)
Ref Sequence ENSEMBL: ENSMUSP00000142087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010208] [ENSMUST00000167868] [ENSMUST00000177567] [ENSMUST00000192323] [ENSMUST00000192990] [ENSMUST00000193932] [ENSMUST00000195843]
Predicted Effect probably damaging
Transcript: ENSMUST00000010208
AA Change: V423A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: V423A

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167868
AA Change: V423A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: V423A

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177567
AA Change: V423A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: V423A

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 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 noncoding transcript
Transcript: ENSMUST00000193495
Predicted Effect probably damaging
Transcript: ENSMUST00000193932
AA Change: V423A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: V423A

DomainStartEndE-ValueType
Pfam:Aa_trans 63 492 1.8e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195033
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
Meta Mutation Damage Score 0.1473 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.3%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,423 S466P possibly damaging Het
1700061G19Rik A G 17: 56,888,655 N684S probably benign Het
4930435E12Rik A G 16: 38,828,145 S201P probably damaging Het
Ablim1 T C 19: 57,079,866 T267A probably damaging Het
Acap2 A T 16: 31,103,499 L724Q possibly damaging Het
Adcy4 T C 14: 55,781,927 T89A possibly damaging Het
Agrp T C 8: 105,567,368 E41G probably benign Het
Akr1d1 G A 6: 37,564,491 V308M probably damaging Het
Ap1m2 C T 9: 21,309,674 R54Q probably benign Het
Arhgap45 T A 10: 80,027,066 V692E probably damaging Het
Arid5b G T 10: 68,243,095 N137K probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
BC048679 T C 7: 81,495,720 N27D probably benign Het
Ccdc78 A G 17: 25,788,700 N237S probably benign Het
Cd46 G A 1: 195,062,396 L345F possibly damaging Het
Cngb3 A T 4: 19,425,569 N459I possibly damaging Het
Ctnnd2 A G 15: 30,881,167 E731G probably damaging Het
Ctsh A G 9: 90,054,548 E26G probably benign Het
Cul1 G T 6: 47,517,146 K464N probably benign Het
Cul1 T A 6: 47,517,191 S479R probably damaging Het
Dcaf5 A T 12: 80,340,232 D373E probably benign Het
Ddx58 G T 4: 40,210,000 S644R probably damaging Het
Dhcr7 A G 7: 143,840,500 Q126R probably benign Het
Dok2 T C 14: 70,777,516 F228L probably damaging Het
Dpep3 T G 8: 105,976,189 I314L probably benign Het
Eps8 A G 6: 137,514,295 F362L probably damaging Het
Espn G T 4: 152,138,846 R250S probably damaging Het
Faf1 A C 4: 109,742,896 N163H probably damaging Het
Fam198b C A 3: 79,936,674 S36* probably null Het
Fam71e2 C T 7: 4,757,469 probably null Het
Fcho1 C T 8: 71,710,481 V635I probably benign Het
Gm7579 G A 7: 142,211,908 C17Y unknown Het
Gm996 T C 2: 25,578,753 Y382C probably damaging Het
Gpx8 G T 13: 113,045,508 Y130* probably null Het
Gvin1 A T 7: 106,163,436 Y609N possibly damaging Het
Hectd4 T A 5: 121,305,818 M30K probably benign Het
Iqub T C 6: 24,450,842 D586G probably damaging Het
Klhl25 T C 7: 75,867,050 I568T probably benign Het
Larp6 A G 9: 60,737,810 E411G probably damaging Het
Lepr A C 4: 101,789,337 I822L probably benign Het
Lrig3 C A 10: 126,011,052 D896E probably benign Het
Lrp1 C T 10: 127,553,824 G3114D probably damaging Het
Macf1 A T 4: 123,486,750 Y1263N probably damaging Het
Mapk10 T C 5: 102,990,619 D180G probably damaging Het
Matr3 T A 18: 35,581,640 V113E probably damaging Het
Mbd4 A T 6: 115,848,926 F368Y possibly damaging Het
Mcpt8 G A 14: 56,082,280 R238W probably benign Het
Mcrip2 G T 17: 25,864,647 T86N possibly damaging Het
Mink1 A G 11: 70,611,592 N1043S probably damaging Het
Muc4 G A 16: 32,754,616 G1497R probably benign Het
Muc4 T A 16: 32,754,625 S1500T probably benign Het
Nbeal2 G A 9: 110,635,194 T1128I probably benign Het
Nrg2 T A 18: 36,196,547 Y205F probably damaging Het
Nubp2 A G 17: 24,884,456 M149T probably benign Het
Olfr1062 T C 2: 86,422,957 T240A probably damaging Het
Olfr462 T A 11: 87,889,225 M224L probably damaging Het
Olfr974 G T 9: 39,942,504 M81I probably benign Het
Pax3 A G 1: 78,192,456 I191T possibly damaging Het
Pdcd5 T C 7: 35,643,710 N137D possibly damaging Het
Pik3c2a G A 7: 116,340,156 A1649V probably damaging Het
Pkhd1l1 T C 15: 44,537,378 S2183P possibly damaging Het
Plekho1 T A 3: 95,988,993 Q388L possibly damaging Het
Ppfibp1 A G 6: 146,990,514 T91A probably benign Het
Ptger4 G T 15: 5,242,606 N177K probably benign Het
Reln A G 5: 21,901,751 F3207S probably benign Het
Ripk4 C T 16: 97,751,536 R194H probably damaging Het
Rnf112 A T 11: 61,452,744 C112S possibly damaging Het
Rprd1b T G 2: 158,074,935 Y278* probably null Het
Sel1l A G 12: 91,831,602 L140P probably damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slitrk6 T C 14: 110,751,883 T131A probably damaging Het
Slmap A T 14: 26,460,209 V323E probably benign Het
Smim6 T C 11: 115,913,504 V39A probably benign Het
Sorbs1 T C 19: 40,337,005 T382A probably benign Het
Sparc G A 11: 55,399,211 T218I possibly damaging Het
Steap1 A T 5: 5,736,589 F283I probably damaging Het
Stil A G 4: 115,038,474 T586A probably benign Het
Tbce T A 13: 14,019,795 D93V probably damaging Het
Tcf12 C T 9: 71,858,840 G504S probably null Het
Tle4 A T 19: 14,464,345 I435K probably benign Het
Tmem245 A G 4: 56,899,164 F254S probably damaging Het
Tmem251 A T 12: 102,744,055 probably benign Het
Tubgcp3 T C 8: 12,649,722 K377R probably benign Het
Ush2a A T 1: 188,553,275 T2003S probably benign Het
Usp53 A G 3: 122,961,363 S32P possibly damaging Het
Vmn1r78 T A 7: 12,152,756 L98Q probably damaging Het
Vmn2r116 A C 17: 23,401,803 Q837P probably benign Het
Vmn2r3 T C 3: 64,275,601 I226V probably benign Het
Vmn2r84 T A 10: 130,385,843 D836V probably damaging Het
Vps13d A G 4: 145,087,161 F165L probably benign Het
Vstm4 A G 14: 32,863,785 E103G possibly damaging Het
Zfp870 A T 17: 32,883,340 C339* probably null Het
Other mutations in Slc38a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Slc38a3 APN 9 107658677 missense probably damaging 1.00
PIT4354001:Slc38a3 UTSW 9 107657649 missense probably benign 0.01
R0522:Slc38a3 UTSW 9 107655213 splice site probably null
R0865:Slc38a3 UTSW 9 107655648 missense probably damaging 1.00
R0919:Slc38a3 UTSW 9 107655959 missense probably damaging 1.00
R1265:Slc38a3 UTSW 9 107651986 missense probably damaging 1.00
R1864:Slc38a3 UTSW 9 107655953 missense probably damaging 1.00
R2919:Slc38a3 UTSW 9 107657687 missense probably damaging 1.00
R4209:Slc38a3 UTSW 9 107655348 missense possibly damaging 0.78
R4343:Slc38a3 UTSW 9 107656472 missense possibly damaging 0.52
R4534:Slc38a3 UTSW 9 107656206 missense probably benign 0.00
R4535:Slc38a3 UTSW 9 107656206 missense probably benign 0.00
R4860:Slc38a3 UTSW 9 107655064 missense probably damaging 1.00
R4916:Slc38a3 UTSW 9 107656227 missense probably benign
R5058:Slc38a3 UTSW 9 107659191 missense possibly damaging 0.53
R5219:Slc38a3 UTSW 9 107651912 unclassified probably benign
R5776:Slc38a3 UTSW 9 107658749 nonsense probably null
R6029:Slc38a3 UTSW 9 107652175 missense probably damaging 1.00
R6146:Slc38a3 UTSW 9 107655029 missense probably benign
R6292:Slc38a3 UTSW 9 107655154 missense possibly damaging 0.88
R7250:Slc38a3 UTSW 9 107656666 missense probably benign 0.31
R8221:Slc38a3 UTSW 9 107657709 missense probably damaging 0.99
R8409:Slc38a3 UTSW 9 107659255 splice site probably benign
R8805:Slc38a3 UTSW 9 107655146 missense probably benign 0.01
R8823:Slc38a3 UTSW 9 107655951 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAGGAGGCCAAACCATGTAC -3'
(R):5'- GCGGTCACACTTACAGTTCC -3'

Sequencing Primer
(F):5'- CCAAACCATGTACACGGGGG -3'
(R):5'- GGTCACACTTACAGTTCCGATTG -3'
Posted On2016-03-01