Incidental Mutation 'R8909:Slc49a3'
ID 678499
Institutional Source Beutler Lab
Gene Symbol Slc49a3
Ensembl Gene ENSMUSG00000029490
Gene Name solute carrier family 49 member 3
Synonyms Mfsd7, 4732482E20Rik, Mfsd7a
MMRRC Submission 068700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8909 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108588920-108596966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108592432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 253 (V253I)
Ref Sequence ENSEMBL: ENSMUSP00000031455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031455]
AlphaFold Q8CE47
Predicted Effect probably benign
Transcript: ENSMUST00000031455
AA Change: V253I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031455
Gene: ENSMUSG00000029490
AA Change: V253I

DomainStartEndE-ValueType
Pfam:MFS_1 36 396 8.9e-23 PFAM
transmembrane domain 423 445 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep G T 13: 63,388,111 (GRCm39) R698L possibly damaging Het
Btnl10 T C 11: 58,813,198 (GRCm39) C276R probably benign Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Cavin4 G A 4: 48,672,421 (GRCm39) G289R probably benign Het
Cdh9 T C 15: 16,848,610 (GRCm39) F430S probably damaging Het
Cfh A G 1: 140,014,086 (GRCm39) I1246T possibly damaging Het
Chd8 C T 14: 52,450,389 (GRCm39) V1490M possibly damaging Het
Clec2g A G 6: 128,958,195 (GRCm39) N137S probably benign Het
Cntn6 T A 6: 104,825,093 (GRCm39) S878T probably benign Het
Cryga G T 1: 65,142,173 (GRCm39) S73R probably benign Het
Dach1 T C 14: 98,406,120 (GRCm39) D209G probably damaging Het
Dnai4 T G 4: 102,944,607 (GRCm39) E248A possibly damaging Het
Duox2 A G 2: 122,126,862 (GRCm39) S218P probably benign Het
Fbn2 T A 18: 58,192,508 (GRCm39) Q1491L possibly damaging Het
Foxg1 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 12: 49,431,475 (GRCm39) probably benign Het
Glra3 A T 8: 56,444,159 (GRCm39) probably null Het
Helz A G 11: 107,556,834 (GRCm39) D1284G possibly damaging Het
Iqsec3 G A 6: 121,390,118 (GRCm39) A451V unknown Het
Kat6b A G 14: 21,719,214 (GRCm39) T1189A probably benign Het
Lama1 T A 17: 68,079,736 (GRCm39) F1203Y Het
Lingo2 A G 4: 35,708,349 (GRCm39) S544P probably damaging Het
Llcfc1 T C 6: 41,661,525 (GRCm39) V25A probably benign Het
Map1a A C 2: 121,129,391 (GRCm39) H143P probably damaging Het
Mbd5 T C 2: 49,169,233 (GRCm39) V1468A probably benign Het
Meis3 T A 7: 15,919,385 (GRCm39) M367K possibly damaging Het
Myo3b G A 2: 70,083,440 (GRCm39) A698T probably damaging Het
Nbn A T 4: 15,970,833 (GRCm39) D272V probably damaging Het
Or51a43 A G 7: 103,718,032 (GRCm39) S69P probably damaging Het
Or56a5 C T 7: 104,793,249 (GRCm39) V84I probably benign Het
Or7g20 G T 9: 18,946,888 (GRCm39) M156I probably benign Het
Or8k27 C T 2: 86,276,082 (GRCm39) M81I possibly damaging Het
Os9 C A 10: 126,956,825 (GRCm39) probably null Het
Pard3b A G 1: 62,383,294 (GRCm39) D796G probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pkp4 A G 2: 59,184,758 (GRCm39) E1180G possibly damaging Het
Plod1 T A 4: 148,011,563 (GRCm39) K221* probably null Het
Ppp6r3 T C 19: 3,509,461 (GRCm39) T795A probably benign Het
Pramel15 T C 4: 144,103,553 (GRCm39) Q191R probably benign Het
Prokr2 T C 2: 132,215,723 (GRCm39) E246G probably damaging Het
Psmb7 A G 2: 38,503,481 (GRCm39) M178T probably damaging Het
Rbm39 C T 2: 156,019,697 (GRCm39) probably benign Het
Saa1 T C 7: 46,390,773 (GRCm39) N46S probably benign Het
Samd12 A G 15: 53,521,853 (GRCm39) L119P probably damaging Het
Sdc3 A G 4: 130,546,094 (GRCm39) E151G unknown Het
Serpina1a T C 12: 103,820,938 (GRCm39) K370E probably damaging Het
Tnrc18 C A 5: 142,762,131 (GRCm39) S681I Het
Ulk2 C T 11: 61,690,380 (GRCm39) G636R probably benign Het
V1ra8 T C 6: 90,179,938 (GRCm39) L47P possibly damaging Het
Wasf3 T C 5: 146,392,410 (GRCm39) L160P Het
Zbtb34 A C 2: 33,301,701 (GRCm39) V280G possibly damaging Het
Zfp646 T C 7: 127,478,515 (GRCm39) Y231H probably damaging 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
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
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
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'- GTGGTGAATGCTGAATGCTC -3'
(R):5'- CCAGCTTGGCATCTACATCG -3'

Sequencing Primer
(F):5'- TGCTCAGAAACAGCAGGTAGC -3'
(R):5'- GGCATCTACATCGGTCCTG -3'
Posted On 2021-08-02