Incidental Mutation 'R6618:Slc49a3'
ID 524202
Institutional Source Beutler Lab
Gene Symbol Slc49a3
Ensembl Gene ENSMUSG00000029490
Gene Name solute carrier family 49 member 3
Synonyms Mfsd7, 4732482E20Rik, Mfsd7a
MMRRC Submission 044741-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6618 (G1)
Quality Score 112.008
Status Validated
Chromosome 5
Chromosomal Location 108588920-108596966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108590964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 400 (T400K)
Ref Sequence ENSEMBL: ENSMUSP00000031455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031455]
AlphaFold Q8CE47
Predicted Effect probably benign
Transcript: ENSMUST00000031455
AA Change: T400K

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031455
Gene: ENSMUSG00000029490
AA Change: T400K

DomainStartEndE-ValueType
Pfam:MFS_1 36 396 8.9e-23 PFAM
transmembrane domain 423 445 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,494,289 (GRCm39) D68G probably damaging Het
Barx2 G A 9: 31,758,168 (GRCm39) L257F probably benign Het
Bbx C G 16: 50,086,626 (GRCm39) W90S probably damaging Het
Bmp1 T A 14: 70,728,808 (GRCm39) D588V probably damaging Het
Caskin2 C T 11: 115,690,855 (GRCm39) M1188I possibly damaging Het
Ccdc180 T A 4: 45,950,708 (GRCm39) I1651N probably damaging Het
Cimip2a C A 2: 25,110,635 (GRCm39) L148M probably benign Het
Cr2 T C 1: 194,839,687 (GRCm39) D580G probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Fam204a T C 19: 60,209,069 (GRCm39) probably null Het
Fam83h T C 15: 75,875,360 (GRCm39) D659G probably damaging Het
Garin3 A G 11: 46,298,126 (GRCm39) T477A probably damaging Het
Hells G T 19: 38,945,528 (GRCm39) R589L probably benign Het
Helz A G 11: 107,489,976 (GRCm39) T144A probably benign Het
Il1r1 T A 1: 40,339,971 (GRCm39) V258D probably damaging Het
Isoc2a A T 7: 4,898,325 (GRCm39) I183F probably benign Het
Kat2a G T 11: 100,603,196 (GRCm39) probably benign Het
Klf9 A G 19: 23,142,235 (GRCm39) M232V probably benign Het
Lars1 G T 18: 42,377,973 (GRCm39) S147R possibly damaging Het
Mkrn3 A G 7: 62,068,781 (GRCm39) F337L probably benign Het
Mrc2 A T 11: 105,240,708 (GRCm39) N1466I probably damaging Het
Myo5c G A 9: 75,182,919 (GRCm39) probably null Het
Pigs T C 11: 78,232,056 (GRCm39) L396P probably damaging Het
Prkcb G A 7: 122,226,886 (GRCm39) R624Q probably benign Het
R3hdm1 T C 1: 128,121,302 (GRCm39) S269P probably benign Het
Racgap1 A T 15: 99,521,875 (GRCm39) I505K probably damaging Het
Ralgds T A 2: 28,440,523 (GRCm39) D777E probably benign Het
Rdh14 A G 12: 10,445,123 (GRCm39) I325V probably benign Het
Rpn2 T A 2: 157,163,781 (GRCm39) H624Q probably benign Het
Scarb1 C T 5: 125,381,394 (GRCm39) S50N probably damaging Het
Shmt1 T C 11: 60,683,772 (GRCm39) probably null Het
Smim24 A G 10: 81,229,966 (GRCm39) N27S possibly damaging Het
Snx13 A G 12: 35,162,444 (GRCm39) D550G probably damaging Het
Tnfsf18 T A 1: 161,322,349 (GRCm39) L23* probably null Het
Trpc3 T A 3: 36,694,844 (GRCm39) K703N possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Zfy2 A G Y: 2,121,477 (GRCm39) S139P probably benign Homo
Other mutations in Slc49a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Slc49a3 APN 5 108,592,458 (GRCm39) splice site probably benign
R0239:Slc49a3 UTSW 5 108,591,882 (GRCm39) splice site probably benign
R0551:Slc49a3 UTSW 5 108,592,331 (GRCm39) splice site probably benign
R2086:Slc49a3 UTSW 5 108,593,487 (GRCm39) missense probably damaging 1.00
R2240:Slc49a3 UTSW 5 108,592,573 (GRCm39) missense probably benign 0.04
R4663:Slc49a3 UTSW 5 108,590,011 (GRCm39) missense probably benign 0.01
R4713:Slc49a3 UTSW 5 108,589,945 (GRCm39) missense probably damaging 0.97
R5560:Slc49a3 UTSW 5 108,596,729 (GRCm39) start codon destroyed probably null 0.01
R5950:Slc49a3 UTSW 5 108,593,351 (GRCm39) missense probably damaging 0.98
R7107:Slc49a3 UTSW 5 108,596,581 (GRCm39) splice site probably null
R7273:Slc49a3 UTSW 5 108,589,857 (GRCm39) missense probably benign
R7369:Slc49a3 UTSW 5 108,593,394 (GRCm39) missense probably benign 0.09
R7384:Slc49a3 UTSW 5 108,593,926 (GRCm39) missense probably damaging 0.96
R7502:Slc49a3 UTSW 5 108,591,646 (GRCm39) splice site probably null
R7585:Slc49a3 UTSW 5 108,596,685 (GRCm39) missense probably benign
R7863:Slc49a3 UTSW 5 108,593,400 (GRCm39) missense probably damaging 1.00
R7908:Slc49a3 UTSW 5 108,592,363 (GRCm39) missense probably benign 0.09
R8909:Slc49a3 UTSW 5 108,592,432 (GRCm39) missense probably benign 0.00
R8976:Slc49a3 UTSW 5 108,589,897 (GRCm39) missense probably benign 0.01
R9063:Slc49a3 UTSW 5 108,590,103 (GRCm39) missense probably damaging 1.00
R9277:Slc49a3 UTSW 5 108,589,864 (GRCm39) missense probably benign
R9797:Slc49a3 UTSW 5 108,593,403 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCATCTGACCACACCATTTC -3'
(R):5'- TTTCTCTGGCCAGGGATAAGC -3'

Sequencing Primer
(F):5'- CCTGGGGGATTAAAGAACAACC -3'
(R):5'- CTCTGGCCAGGGATAAGCATGTAC -3'
Posted On 2018-06-22