Incidental Mutation 'R5728:Mfsd4b2'
ID 452615
Institutional Source Beutler Lab
Gene Symbol Mfsd4b2
Ensembl Gene ENSMUSG00000039339
Gene Name major facilitator superfamily domain containing 4B2
Synonyms 2010001E11Rik, Mfsd4b2, Mfsd4b2-ps
MMRRC Submission 043345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5728 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 39796956-39802945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 39799791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 37 (F37C)
Ref Sequence ENSEMBL: ENSMUSP00000040384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045526]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045526
AA Change: F37C

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040384
Gene: ENSMUSG00000039339
AA Change: F37C

DomainStartEndE-ValueType
Pfam:MFS_1 1 322 3.9e-11 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik T A 2: 103,953,213 (GRCm39) M13K possibly damaging Het
Abca13 T A 11: 9,520,576 (GRCm39) V4493D probably damaging Het
Ank1 A G 8: 23,612,783 (GRCm39) probably null Het
B4galnt4 A G 7: 140,650,488 (GRCm39) D785G probably benign Het
Chtop C T 3: 90,407,399 (GRCm39) G187D probably damaging Het
Cnih1 A G 14: 47,017,648 (GRCm39) F78S probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcun1d4 T C 5: 73,677,491 (GRCm39) F57L possibly damaging Het
Dgkz A G 2: 91,776,132 (GRCm39) S44P possibly damaging Het
Dhps A G 8: 85,799,964 (GRCm39) D138G probably damaging Het
Elp2 A G 18: 24,750,509 (GRCm39) E282G probably damaging Het
Exoc6b T C 6: 84,837,173 (GRCm39) Y342C probably damaging Het
Fasn A C 11: 120,704,339 (GRCm39) S1386A probably benign Het
Foxj3 A T 4: 119,430,959 (GRCm39) N111Y probably damaging Het
Gm5431 T C 11: 48,779,440 (GRCm39) E772G probably damaging Het
Gpbar1 A G 1: 74,318,216 (GRCm39) N153S probably damaging Het
Hspg2 T C 4: 137,270,077 (GRCm39) I2345T possibly damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Lce1f A G 3: 92,626,652 (GRCm39) S2P unknown Het
Lrrk2 A G 15: 91,659,177 (GRCm39) D1863G probably benign Het
Lurap1 T C 4: 116,001,585 (GRCm39) E36G possibly damaging Het
Lysmd3 A G 13: 81,817,380 (GRCm39) E119G probably damaging Het
Map9 G A 3: 82,270,642 (GRCm39) V69I probably benign Het
Moxd1 A T 10: 24,099,581 (GRCm39) H27L possibly damaging Het
Myo15a A T 11: 60,379,722 (GRCm39) K1476N probably damaging Het
Mzf1 A G 7: 12,777,985 (GRCm39) I552T probably benign Het
Nfatc2 A G 2: 168,322,169 (GRCm39) V910A probably benign Het
Or52n2 C T 7: 104,542,436 (GRCm39) R133Q possibly damaging Het
Prss2 T C 6: 41,500,851 (GRCm39) V88A probably benign Het
Rhbdf1 A G 11: 32,159,901 (GRCm39) probably null Het
Slc10a4 A T 5: 73,169,677 (GRCm39) Q434L probably damaging Het
Slc4a3 A G 1: 75,526,484 (GRCm39) T2A probably benign Het
Sqor A G 2: 122,651,320 (GRCm39) *194W probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tagap1 A G 17: 7,224,420 (GRCm39) V92A probably benign Het
Tiam2 A G 17: 3,465,231 (GRCm39) Y320C probably damaging Het
Toporsl T C 4: 52,611,469 (GRCm39) I454T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ubap1l T C 9: 65,276,570 (GRCm39) V24A probably benign Het
Unc13c A T 9: 73,466,238 (GRCm39) S1810T probably benign Het
Vmn1r56 A T 7: 5,199,122 (GRCm39) I165K probably benign Het
Wnt8b A G 19: 44,499,757 (GRCm39) T169A possibly damaging Het
Wrap73 T C 4: 154,239,099 (GRCm39) probably null Het
Wwc2 A G 8: 48,317,096 (GRCm39) I703T unknown Het
Zfp354a T A 11: 50,961,432 (GRCm39) C546S probably damaging Het
Other mutations in Mfsd4b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Mfsd4b2 APN 10 39,801,057 (GRCm39) splice site probably benign
IGL01546:Mfsd4b2 APN 10 39,797,471 (GRCm39) missense probably damaging 1.00
IGL01662:Mfsd4b2 APN 10 39,798,193 (GRCm39) splice site probably benign
IGL02151:Mfsd4b2 APN 10 39,797,687 (GRCm39) missense probably damaging 1.00
R1928:Mfsd4b2 UTSW 10 39,797,458 (GRCm39) missense probably damaging 1.00
R2851:Mfsd4b2 UTSW 10 39,798,119 (GRCm39) missense probably benign 0.07
R3777:Mfsd4b2 UTSW 10 39,797,527 (GRCm39) missense possibly damaging 0.54
R5055:Mfsd4b2 UTSW 10 39,799,773 (GRCm39) missense possibly damaging 0.79
R5257:Mfsd4b2 UTSW 10 39,798,017 (GRCm39) missense probably benign 0.00
R5258:Mfsd4b2 UTSW 10 39,798,017 (GRCm39) missense probably benign 0.00
R5563:Mfsd4b2 UTSW 10 39,798,038 (GRCm39) missense probably benign 0.15
R5888:Mfsd4b2 UTSW 10 39,798,031 (GRCm39) missense probably benign 0.00
R6147:Mfsd4b2 UTSW 10 39,797,573 (GRCm39) missense probably benign
R6362:Mfsd4b2 UTSW 10 39,797,605 (GRCm39) missense probably damaging 1.00
R7462:Mfsd4b2 UTSW 10 39,797,877 (GRCm39) missense probably benign 0.03
R7801:Mfsd4b2 UTSW 10 39,799,777 (GRCm39) missense probably benign 0.00
R8126:Mfsd4b2 UTSW 10 39,797,984 (GRCm39) missense probably benign
R8158:Mfsd4b2 UTSW 10 39,798,064 (GRCm39) missense probably benign 0.35
R8677:Mfsd4b2 UTSW 10 39,799,805 (GRCm39) missense probably benign 0.00
R9013:Mfsd4b2 UTSW 10 39,798,062 (GRCm39) missense probably benign 0.05
Z1176:Mfsd4b2 UTSW 10 39,797,596 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATACTGGGGTACTGAGGTGC -3'
(R):5'- CCAAGACCAAACAGCTTTAATTCAGTG -3'

Sequencing Primer
(F):5'- AGGTGCTGAAGTGTGATGCTAAG -3'
(R):5'- CTTCTGACCTTCACAAACAC -3'
Posted On 2017-01-03