Incidental Mutation 'R1232:Mfsd3'
ID 152329
Institutional Source Beutler Lab
Gene Symbol Mfsd3
Ensembl Gene ENSMUSG00000019080
Gene Name major facilitator superfamily domain containing 3
Synonyms 2310010G13Rik
MMRRC Submission 039301-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1232 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76585742-76588439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76587382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 355 (Q355R)
Ref Sequence ENSEMBL: ENSMUSP00000019224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000230724] [ENSMUST00000229140] [ENSMUST00000230544] [ENSMUST00000229734] [ENSMUST00000229679]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019224
AA Change: Q355R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080
AA Change: Q355R

DomainStartEndE-ValueType
Pfam:MFS_1 8 373 3e-16 PFAM
transmembrane domain 388 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000023203
SMART Domains Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 83 484 7.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036852
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

DomainStartEndE-ValueType
Pfam:Drc1-Sld2 4 132 2.8e-14 PFAM
low complexity region 169 187 N/A INTRINSIC
low complexity region 368 379 N/A INTRINSIC
ZnF_C2HC 394 410 5.67e-5 SMART
DEXDc 494 701 5.86e-28 SMART
HELICc 736 831 1.48e-24 SMART
Blast:DEXDc 902 1117 3e-46 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230482
Predicted Effect probably benign
Transcript: ENSMUST00000230724
Predicted Effect probably benign
Transcript: ENSMUST00000229140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230468
Predicted Effect probably benign
Transcript: ENSMUST00000230544
Predicted Effect probably benign
Transcript: ENSMUST00000229734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230283
Predicted Effect probably benign
Transcript: ENSMUST00000229679
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,469,300 (GRCm39) L751M probably damaging Het
Arhgap29 A G 3: 121,796,989 (GRCm39) D525G probably damaging Het
Ccdc168 T C 1: 44,095,752 (GRCm39) Y1782C possibly damaging Het
Ces2h T C 8: 105,741,287 (GRCm39) M93T probably benign Het
Cyp4a12b A T 4: 115,289,760 (GRCm39) D209V possibly damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Fbxo38 A G 18: 62,643,882 (GRCm39) V925A probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Gtf3c5 A G 2: 28,461,227 (GRCm39) W296R probably damaging Het
Ints8 A G 4: 11,234,587 (GRCm39) I415T possibly damaging Het
Krt1c A G 15: 101,720,219 (GRCm39) S513P probably damaging Het
Loxhd1 G A 18: 77,493,699 (GRCm39) probably null Het
Mms22l C T 4: 24,536,274 (GRCm39) T621I probably benign Het
Or8g54 G A 9: 39,707,264 (GRCm39) V198I probably benign Het
Pcdhb8 A G 18: 37,488,828 (GRCm39) N169D probably benign Het
Rnls T G 19: 33,180,046 (GRCm39) I135L probably benign Het
Sgsm1 G T 5: 113,421,577 (GRCm39) C558* probably null Het
Spata31d1c T A 13: 65,184,428 (GRCm39) C657S probably benign Het
Vmn2r15 T C 5: 109,441,168 (GRCm39) D230G probably benign Het
Zfp429 T C 13: 67,538,751 (GRCm39) Y231C possibly damaging Het
Other mutations in Mfsd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Mfsd3 APN 15 76,587,352 (GRCm39) missense probably benign 0.01
IGL03159:Mfsd3 APN 15 76,587,101 (GRCm39) missense probably benign
R1389:Mfsd3 UTSW 15 76,586,889 (GRCm39) missense probably benign 0.01
R1535:Mfsd3 UTSW 15 76,586,979 (GRCm39) missense probably damaging 1.00
R4159:Mfsd3 UTSW 15 76,585,945 (GRCm39) missense probably damaging 1.00
R4993:Mfsd3 UTSW 15 76,586,182 (GRCm39) missense probably damaging 1.00
R5307:Mfsd3 UTSW 15 76,586,371 (GRCm39) nonsense probably null
R6902:Mfsd3 UTSW 15 76,587,349 (GRCm39) missense probably damaging 1.00
R6946:Mfsd3 UTSW 15 76,587,349 (GRCm39) missense probably damaging 1.00
R9684:Mfsd3 UTSW 15 76,587,183 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCACTGAAGCTGTTGAAGACAGTGC -3'
(R):5'- CAACATCCAGCTCAGGTCAGGTTAC -3'

Sequencing Primer
(F):5'- ACCCTGGCACAGTCATGAG -3'
(R):5'- CCAGGCGGAGATCCAGAAC -3'
Posted On 2014-01-29