Incidental Mutation 'R4663:Slc49a3'
ID 352994
Institutional Source Beutler Lab
Gene Symbol Slc49a3
Ensembl Gene ENSMUSG00000029490
Gene Name solute carrier family 49 member 3
Synonyms Mfsd7, 4732482E20Rik, Mfsd7a
MMRRC Submission 041921-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4663 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108588920-108596966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108590011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 464 (M464V)
Ref Sequence ENSEMBL: ENSMUSP00000031455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031455]
AlphaFold Q8CE47
Predicted Effect probably benign
Transcript: ENSMUST00000031455
AA Change: M464V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031455
Gene: ENSMUSG00000029490
AA Change: M464V

DomainStartEndE-ValueType
Pfam:MFS_1 36 396 8.9e-23 PFAM
transmembrane domain 423 445 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqr A T 2: 113,992,147 (GRCm39) Y76* probably null Het
Armc5 C A 7: 127,837,717 (GRCm39) A140E probably benign Het
Auts2 T C 5: 131,468,476 (GRCm39) H947R probably damaging Het
Bag2 T C 1: 33,786,074 (GRCm39) T83A probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bean1 A G 8: 104,937,799 (GRCm39) Y126C probably damaging Het
Cars1 T C 7: 143,129,697 (GRCm39) E330G probably damaging Het
Ccdc40 A G 11: 119,122,332 (GRCm39) I45V probably benign Het
Cd320 G A 17: 34,067,152 (GRCm39) G214R probably null Het
Ckm G A 7: 19,153,419 (GRCm39) V237M probably damaging Het
Cplane1 T C 15: 8,247,939 (GRCm39) V1496A probably benign Het
Cspg4 T C 9: 56,793,960 (GRCm39) V565A possibly damaging Het
Dnaaf10 T C 11: 17,182,853 (GRCm39) V338A probably benign Het
Eddm13 T G 7: 6,261,624 (GRCm39) I35S possibly damaging Het
Ephb6 A G 6: 41,594,799 (GRCm39) Y638C probably damaging Het
Fat2 G C 11: 55,187,039 (GRCm39) S1269* probably null Het
Fbxo3 T C 2: 103,883,820 (GRCm39) V348A probably damaging Het
Gas6 G A 8: 13,520,254 (GRCm39) P478L probably damaging Het
Herc1 T C 9: 66,340,660 (GRCm39) S1670P probably damaging Het
Hnrnpk C A 13: 58,542,331 (GRCm39) R281L probably damaging Het
Ifih1 C A 2: 62,439,563 (GRCm39) C488F probably benign Het
Ift172 T C 5: 31,441,559 (GRCm39) K192E probably benign Het
Ighv5-9 T A 12: 113,625,440 (GRCm39) Q101L probably benign Het
Igkv3-2 G T 6: 70,675,863 (GRCm39) M57I probably benign Het
Insyn2a A T 7: 134,500,877 (GRCm39) Y409* probably null Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
L3mbtl3 T C 10: 26,213,715 (GRCm39) Y237C unknown Het
Lats1 G A 10: 7,588,347 (GRCm39) C988Y probably damaging Het
Lgals3 T A 14: 47,619,079 (GRCm39) probably null Het
Lrrc3b G T 14: 15,358,220 (GRCm38) H129N probably benign Het
Lrriq1 T C 10: 102,899,273 (GRCm39) H1656R possibly damaging Het
Lypd6 T G 2: 50,063,623 (GRCm39) Y43* probably null Het
Mettl25b A G 3: 87,835,055 (GRCm39) S82P probably damaging Het
Mical2 A G 7: 111,927,884 (GRCm39) D674G possibly damaging Het
Msi1 G A 5: 115,588,334 (GRCm39) R284Q probably damaging Het
Mybpc2 T C 7: 44,155,066 (GRCm39) E947G probably damaging Het
Nat14 T A 7: 4,927,446 (GRCm39) L206Q probably damaging Het
Nup88 A T 11: 70,856,672 (GRCm39) probably null Het
Or11g27 A T 14: 50,771,061 (GRCm39) Y64F probably damaging Het
Or4k15 A G 14: 50,364,939 (GRCm39) R302G probably benign Het
Or8g19 A T 9: 39,056,145 (GRCm39) I250F probably damaging Het
Pdcl T C 2: 37,245,778 (GRCm39) E75G probably damaging Het
Phf14 A G 6: 11,953,421 (GRCm39) I387V possibly damaging Het
Phf3 G A 1: 30,860,296 (GRCm39) R845W probably damaging Het
Pm20d1 T C 1: 131,726,340 (GRCm39) I59T probably damaging Het
Prkd1 C T 12: 50,466,631 (GRCm39) probably null Het
Psmb2 T C 4: 126,571,558 (GRCm39) L4P probably damaging Het
Pttg1 T A 11: 43,315,677 (GRCm39) K46* probably null Het
Ryr2 T C 13: 11,764,395 (GRCm39) H1401R possibly damaging Het
Septin4 T A 11: 87,458,429 (GRCm39) Y268N probably damaging Het
Sh3d19 G A 3: 86,030,570 (GRCm39) D696N probably benign Het
Slc16a2 T C X: 102,751,585 (GRCm39) T274A probably benign Het
Slc26a6 G A 9: 108,735,106 (GRCm39) A335T probably damaging Het
Slc6a5 C A 7: 49,588,146 (GRCm39) Y493* probably null Het
Slf1 A T 13: 77,274,723 (GRCm39) S37R probably damaging Het
Smoc1 G A 12: 81,214,376 (GRCm39) G264S probably damaging Het
Snapc4 T C 2: 26,264,193 (GRCm39) E280G possibly damaging Het
Snx25 G A 8: 46,488,616 (GRCm39) T913M probably damaging Het
Snx7 T C 3: 117,594,528 (GRCm39) T408A probably benign Het
Spdya T A 17: 71,885,339 (GRCm39) S264R probably benign Het
Spg11 A T 2: 121,928,580 (GRCm39) probably null Het
Suz12 T A 11: 79,904,350 (GRCm39) L230Q probably damaging Het
Szt2 A G 4: 118,234,881 (GRCm39) probably benign Het
Tenm3 C A 8: 48,689,005 (GRCm39) R2194L probably damaging Het
Tmed8 T A 12: 87,221,005 (GRCm39) I194F probably damaging Het
Tmem79 T A 3: 88,240,751 (GRCm39) T66S probably damaging Het
Trappc1 T A 11: 69,216,337 (GRCm39) S118T probably benign Het
Ttn C T 2: 76,569,225 (GRCm39) V27223I probably benign Het
Ttn T C 2: 76,606,839 (GRCm39) T18024A probably damaging Het
Vmn2r15 C T 5: 109,441,940 (GRCm39) M164I probably benign Het
Vmn2r53 T A 7: 12,334,901 (GRCm39) Y253F probably benign Het
Zfand6 C T 7: 84,267,093 (GRCm39) R163H probably benign Het
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
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
R6618:Slc49a3 UTSW 5 108,590,964 (GRCm39) missense probably benign 0.16
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'- TATGCTTTACTAGACGTCTCTGGG -3'
(R):5'- TCACCATCACTGGGGTCAAC -3'

Sequencing Primer
(F):5'- ACTAGACGTCTCTGGGCATAGTC -3'
(R):5'- ATCACTGGGGTCAACTAGGTC -3'
Posted On 2015-10-08