Incidental Mutation 'R6554:Mfsd4b5'
ID 521861
Institutional Source Beutler Lab
Gene Symbol Mfsd4b5
Ensembl Gene ENSMUSG00000038528
Gene Name major facilitator superfamily domain containing 4B5
Synonyms BC021785
MMRRC Submission 044679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6554 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 39834057-39862642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39862428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 32 (T32S)
Ref Sequence ENSEMBL: ENSMUSP00000073304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045524] [ENSMUST00000073618] [ENSMUST00000164566] [ENSMUST00000170579]
AlphaFold E9PYY6
Predicted Effect probably benign
Transcript: ENSMUST00000045524
SMART Domains Protein: ENSMUSP00000040341
Gene: ENSMUSG00000038528

DomainStartEndE-ValueType
transmembrane domain 45 64 N/A INTRINSIC
transmembrane domain 71 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073618
AA Change: T32S

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073304
Gene: ENSMUSG00000038528
AA Change: T32S

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
transmembrane domain 102 120 N/A INTRINSIC
transmembrane domain 124 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164566
AA Change: T32S

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130944
Gene: ENSMUSG00000038528
AA Change: T32S

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170579
AA Change: T32S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126439
Gene: ENSMUSG00000038528
AA Change: T32S

DomainStartEndE-ValueType
Pfam:MFS_1 39 395 7.2e-15 PFAM
Pfam:TrkH 170 325 1.4e-9 PFAM
transmembrane domain 423 445 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,618,246 (GRCm39) R180C probably damaging Het
B3galt9 C A 2: 34,729,276 (GRCm39) S358R probably benign Het
Ces1b C A 8: 93,791,619 (GRCm39) V327L probably benign Het
Cps1 C T 1: 67,213,628 (GRCm39) R787* probably null Het
Dmrt2 C T 19: 25,655,312 (GRCm39) P304S probably damaging Het
Dop1b A G 16: 93,557,346 (GRCm39) D429G probably benign Het
Dync1h1 T A 12: 110,616,282 (GRCm39) M3111K probably benign Het
Dync2h1 A G 9: 7,037,699 (GRCm39) V3393A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam184a T C 10: 53,517,063 (GRCm39) D1007G possibly damaging Het
Flt3 A C 5: 147,312,545 (GRCm39) L132W probably damaging Het
Gm14322 G A 2: 177,410,220 (GRCm39) S60N possibly damaging Het
Katnip C T 7: 125,449,914 (GRCm39) R993C probably damaging Het
Kcnj16 T A 11: 110,916,131 (GRCm39) Y264* probably null Het
Klkb1 T A 8: 45,726,591 (GRCm39) I471F probably damaging Het
Lrfn4 T C 19: 4,663,914 (GRCm39) T207A probably damaging Het
Mtbp A G 15: 55,430,645 (GRCm39) D234G probably damaging Het
Nfix T C 8: 85,454,279 (GRCm39) T218A possibly damaging Het
Nsd3 A T 8: 26,152,891 (GRCm39) E410D probably damaging Het
Or4g17 C T 2: 111,209,504 (GRCm39) S53F possibly damaging Het
Or5aq7 A T 2: 86,937,970 (GRCm39) S254T probably benign Het
Reln T C 5: 22,101,838 (GRCm39) Y3364C probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpina1d A T 12: 103,731,062 (GRCm39) H305Q probably benign Het
Skic8 A T 9: 54,634,929 (GRCm39) I88N probably damaging Het
Skint8 G A 4: 111,784,413 (GRCm39) C13Y probably benign Het
Smc4 G A 3: 68,936,848 (GRCm39) V863I probably benign Het
Spdl1 T G 11: 34,713,397 (GRCm39) N224T possibly damaging Het
Sprr1b T G 3: 92,344,420 (GRCm39) Q152P possibly damaging Het
St6gal1 A G 16: 23,140,405 (GRCm39) N192S probably benign Het
Tbc1d8 T C 1: 39,445,903 (GRCm39) N96S probably damaging Het
Tbccd1 A T 16: 22,640,874 (GRCm39) I501K probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Unk T C 11: 115,942,285 (GRCm39) I293T probably damaging Het
Vmn2r61 A G 7: 41,926,139 (GRCm39) E548G probably damaging Het
Wdr97 A G 15: 76,239,178 (GRCm39) D85G possibly damaging Het
Zeb2 A T 2: 44,887,524 (GRCm39) V496E probably damaging Het
Other mutations in Mfsd4b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Mfsd4b5 APN 10 39,846,723 (GRCm39) missense probably damaging 1.00
R1138:Mfsd4b5 UTSW 10 39,851,150 (GRCm39) missense probably damaging 1.00
R1166:Mfsd4b5 UTSW 10 39,846,419 (GRCm39) missense probably damaging 1.00
R1668:Mfsd4b5 UTSW 10 39,849,687 (GRCm39) missense probably damaging 0.98
R1718:Mfsd4b5 UTSW 10 39,851,199 (GRCm39) missense probably benign 0.09
R3977:Mfsd4b5 UTSW 10 39,850,704 (GRCm39) intron probably benign
R5015:Mfsd4b5 UTSW 10 39,850,758 (GRCm39) missense probably benign 0.03
R5080:Mfsd4b5 UTSW 10 39,846,570 (GRCm39) missense probably damaging 1.00
R5191:Mfsd4b5 UTSW 10 39,846,668 (GRCm39) missense probably damaging 1.00
R6706:Mfsd4b5 UTSW 10 39,862,413 (GRCm39) missense probably benign 0.17
R7667:Mfsd4b5 UTSW 10 39,850,796 (GRCm39) missense probably benign 0.01
R7750:Mfsd4b5 UTSW 10 39,846,251 (GRCm39) missense probably damaging 1.00
R8223:Mfsd4b5 UTSW 10 39,846,246 (GRCm39) missense probably damaging 1.00
R8854:Mfsd4b5 UTSW 10 39,846,735 (GRCm39) missense probably damaging 1.00
R9240:Mfsd4b5 UTSW 10 39,851,099 (GRCm39) missense probably damaging 1.00
Z1176:Mfsd4b5 UTSW 10 39,862,386 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTAAGGTTTGCTGCAGTTG -3'
(R):5'- GGAGAAGTCTTCTGGTCAGAC -3'

Sequencing Primer
(F):5'- CTGCAGTTGGAAAATATTAGGGTC -3'
(R):5'- TCAGACAGAACAGGGGCTC -3'
Posted On 2018-06-06