Incidental Mutation 'R2086:Slc49a3'
ID 229985
Institutional Source Beutler Lab
Gene Symbol Slc49a3
Ensembl Gene ENSMUSG00000029490
Gene Name solute carrier family 49 member 3
Synonyms Mfsd7, 4732482E20Rik, Mfsd7a
MMRRC Submission 040091-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R2086 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 108588920-108596966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108593487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 117 (R117H)
Ref Sequence ENSEMBL: ENSMUSP00000031455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031455]
AlphaFold Q8CE47
Predicted Effect probably damaging
Transcript: ENSMUST00000031455
AA Change: R117H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031455
Gene: ENSMUSG00000029490
AA Change: R117H

DomainStartEndE-ValueType
Pfam:MFS_1 36 396 8.9e-23 PFAM
transmembrane domain 423 445 N/A INTRINSIC
Meta Mutation Damage Score 0.3512 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 124,917,767 (GRCm39) M53T unknown Het
Abcb11 T A 2: 69,089,820 (GRCm39) probably benign Het
Acap2 C G 16: 30,929,763 (GRCm39) A432P probably damaging Het
Adamtsl1 A G 4: 86,146,249 (GRCm39) R302G probably damaging Het
Aoc1l1 A G 6: 48,954,536 (GRCm39) E558G probably damaging Het
Ap2b1 T G 11: 83,241,944 (GRCm39) S608A possibly damaging Het
Atp13a3 T A 16: 30,171,116 (GRCm39) T310S possibly damaging Het
Atp6v1b1 T C 6: 83,734,834 (GRCm39) V382A probably benign Het
Atp6v1g1 T A 4: 63,468,304 (GRCm39) F102L probably benign Het
B430306N03Rik T A 17: 48,623,810 (GRCm39) V37D probably damaging Het
Cacna1d T C 14: 29,769,314 (GRCm39) Y1872C possibly damaging Het
Carf T A 1: 60,148,570 (GRCm39) Y54N probably damaging Het
Cct5 T C 15: 31,594,349 (GRCm39) E256G probably damaging Het
Cd5 A G 19: 10,700,620 (GRCm39) S295P probably benign Het
Cenpb T C 2: 131,020,517 (GRCm39) probably benign Het
Cntnap3 A G 13: 64,942,076 (GRCm39) M218T possibly damaging Het
Colec11 C T 12: 28,644,786 (GRCm39) R236H probably damaging Het
Crem T A 18: 3,288,098 (GRCm39) probably benign Het
Csnk2a1 A G 2: 152,096,201 (GRCm39) N58S probably benign Het
Cyp2a4 T G 7: 26,011,733 (GRCm39) M318R probably damaging Het
Dhrs1 T A 14: 55,981,116 (GRCm39) Q98L probably null Het
Dnah11 G T 12: 118,077,606 (GRCm39) Q1296K possibly damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Eid2b C T 7: 27,977,198 (GRCm39) probably benign Het
Exoc1 A T 5: 76,680,693 (GRCm39) K28* probably null Het
Fam114a1 A G 5: 65,137,402 (GRCm39) D115G probably benign Het
Fam151a A T 4: 106,592,760 (GRCm39) probably null Het
Gc T C 5: 89,586,201 (GRCm39) Y313C probably damaging Het
Gdpd1 A G 11: 86,926,094 (GRCm39) Y284H probably benign Het
Gm21957 T A 7: 124,818,878 (GRCm39) noncoding transcript Het
Golm1 G A 13: 59,792,999 (GRCm39) Q169* probably null Het
Greb1l T C 18: 10,523,281 (GRCm39) V813A probably damaging Het
Itih1 C T 14: 30,659,800 (GRCm39) A279T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 T C 17: 68,124,618 (GRCm39) C2893R probably damaging Het
Lama3 T A 18: 12,657,887 (GRCm39) N334K probably benign Het
Loxhd1 A G 18: 77,472,642 (GRCm39) D1053G probably damaging Het
Map3k20 A G 2: 72,228,729 (GRCm39) K316R probably benign Het
Mapre3 A C 5: 31,020,546 (GRCm39) probably null Het
Mgam T A 6: 40,737,962 (GRCm39) probably null Het
Mical2 A C 7: 111,917,810 (GRCm39) H389P probably benign Het
Mtmr2 A G 9: 13,711,248 (GRCm39) D347G probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nodal A T 10: 61,259,077 (GRCm39) E171D possibly damaging Het
Notch2 T C 3: 98,009,683 (GRCm39) S537P probably damaging Het
Obox6 A G 7: 15,567,532 (GRCm39) L305S probably damaging Het
Obscn T C 11: 58,969,082 (GRCm39) D2715G probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5g26 A C 2: 85,494,090 (GRCm39) S229R probably benign Het
Pcca T C 14: 122,923,527 (GRCm39) S404P probably damaging Het
Pcdh10 T C 3: 45,334,906 (GRCm39) S407P probably damaging Het
Plekha5 C A 6: 140,516,044 (GRCm39) probably null Het
Ptdss1 A G 13: 67,101,619 (GRCm39) N72S probably benign Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Pygm G A 19: 6,441,511 (GRCm39) probably null Het
Rab7 C T 6: 87,989,300 (GRCm39) V57I probably benign Het
Rasl10a A G 11: 5,009,431 (GRCm39) probably null Het
Rergl T C 6: 139,471,832 (GRCm39) T106A probably benign Het
Rnf17 T G 14: 56,720,837 (GRCm39) V1023G probably damaging Het
Rnf25 T A 1: 74,633,126 (GRCm39) R409W probably damaging Het
Rps6ka1 T C 4: 133,600,280 (GRCm39) M1V probably null Het
Rps6ka5 T C 12: 100,585,874 (GRCm39) T140A possibly damaging Het
Sbno2 T A 10: 79,893,690 (GRCm39) I1204F possibly damaging Het
Serpina16 A T 12: 103,641,521 (GRCm39) I68N probably damaging Het
Slc35a5 A G 16: 44,964,628 (GRCm39) S202P probably damaging Het
Slc35g3 G C 11: 69,651,772 (GRCm39) S93W probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Spag1 T C 15: 36,227,287 (GRCm39) L648P probably damaging Het
Tagap1 T C 17: 7,224,102 (GRCm39) D198G probably benign Het
Tedc2 T C 17: 24,436,874 (GRCm39) E287G probably damaging Het
Tjp1 C A 7: 64,962,669 (GRCm39) R1089S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ttc38 T A 15: 85,722,928 (GRCm39) D125E probably benign Het
Uggt1 C T 1: 36,231,495 (GRCm39) R490Q probably null Het
Uroc1 T G 6: 90,321,096 (GRCm39) L224R probably damaging Het
Vmn1r228 A T 17: 20,997,455 (GRCm39) I21N possibly damaging Het
Vmn2r102 T G 17: 19,896,949 (GRCm39) L99V probably damaging Het
Vps13c C T 9: 67,857,571 (GRCm39) S2601F probably benign Het
Zfp462 T C 4: 55,010,830 (GRCm39) L932P 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
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
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'- CACACATGGTGCTGATCATG -3'
(R):5'- TTCAGATTAGACTCCACCAGCC -3'

Sequencing Primer
(F):5'- CATGGTGCTGATCATGTTAGC -3'
(R):5'- CCCAGCAAAGCAGCTTGG -3'
Posted On 2014-09-18