Incidental Mutation 'R1159:Mfsd13b'
ID 101969
Institutional Source Beutler Lab
Gene Symbol Mfsd13b
Ensembl Gene ENSMUSG00000030877
Gene Name major facilitator superfamily domain containing 13B
Synonyms 4933427G17Rik
MMRRC Submission 039232-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1159 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120581732-120614010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120613766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 421 (M421T)
Ref Sequence ENSEMBL: ENSMUSP00000150654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000216241]
AlphaFold A0A1L1SUA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000033166
AA Change: M420T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: M420T

DomainStartEndE-ValueType
Pfam:MFS_2 9 439 5.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077747
Predicted Effect unknown
Transcript: ENSMUST00000133939
AA Change: M130T
SMART Domains Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877
AA Change: M130T

DomainStartEndE-ValueType
transmembrane domain 48 67 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000216241
AA Change: M421T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,115,137 (GRCm39) H164Y probably damaging Het
Acss2 T C 2: 155,393,138 (GRCm39) I288T probably benign Het
Akap9 C T 5: 4,010,865 (GRCm39) R541C probably damaging Het
Ano5 T C 7: 51,229,222 (GRCm39) probably benign Het
Anp32b T C 4: 46,471,478 (GRCm39) probably benign Het
Avil T C 10: 126,847,659 (GRCm39) V528A possibly damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdk10 T C 8: 123,955,062 (GRCm39) probably benign Het
Cfap65 A T 1: 74,968,499 (GRCm39) F111Y probably damaging Het
Cryge A G 1: 65,089,967 (GRCm39) F72L probably benign Het
Ercc3 C T 18: 32,397,611 (GRCm39) T614I possibly damaging Het
Fgd5 T C 6: 91,965,483 (GRCm39) I572T probably benign Het
Fubp1 A G 3: 151,921,229 (GRCm39) D88G possibly damaging Het
Gcnt1 C A 19: 17,307,168 (GRCm39) V186F possibly damaging Het
Gldc A T 19: 30,138,162 (GRCm39) probably benign Het
Gxylt2 A G 6: 100,781,602 (GRCm39) M426V possibly damaging Het
Hps5 A T 7: 46,421,978 (GRCm39) probably null Het
Igf2bp2 G A 16: 21,880,603 (GRCm39) probably benign Het
Lamb2 T C 9: 108,358,607 (GRCm39) S215P probably damaging Het
Mtif2 C A 11: 29,490,729 (GRCm39) R478S possibly damaging Het
Nadk2 G A 15: 9,106,925 (GRCm39) R351H possibly damaging Het
Nt5dc1 T C 10: 34,274,169 (GRCm39) D167G possibly damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Ppig T A 2: 69,580,568 (GRCm39) S701T unknown Het
Pramel17 T C 4: 101,695,224 (GRCm39) E29G possibly damaging Het
Ptprc A G 1: 138,000,057 (GRCm39) S830P probably damaging Het
Rev3l T A 10: 39,727,921 (GRCm39) L2690* probably null Het
Rgs22 A T 15: 36,040,839 (GRCm39) S883T probably damaging Het
Rxfp4 A G 3: 88,559,894 (GRCm39) W186R probably damaging Het
Sacm1l T C 9: 123,395,476 (GRCm39) S200P probably benign Het
Serpinb6d T A 13: 33,855,212 (GRCm39) D295E probably damaging Het
Slc38a10 A G 11: 119,996,301 (GRCm39) V932A probably benign Het
Top2b T C 14: 16,430,329 (GRCm38) S1568P possibly damaging Het
Tox T G 4: 6,697,600 (GRCm39) N401T probably benign Het
Trim24 T C 6: 37,933,412 (GRCm39) probably null Het
Unc79 T G 12: 103,013,311 (GRCm39) probably benign Het
Vmn2r66 A T 7: 84,644,613 (GRCm39) I599N probably benign Het
Zfa-ps T A 10: 52,419,654 (GRCm39) noncoding transcript Het
Other mutations in Mfsd13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Mfsd13b APN 7 120,598,132 (GRCm39) missense probably damaging 1.00
IGL02985:Mfsd13b APN 7 120,599,395 (GRCm39) missense probably damaging 1.00
R2041:Mfsd13b UTSW 7 120,591,139 (GRCm39) splice site probably benign
R2080:Mfsd13b UTSW 7 120,591,047 (GRCm39) missense probably null
R4762:Mfsd13b UTSW 7 120,590,549 (GRCm39) missense probably damaging 1.00
R4885:Mfsd13b UTSW 7 120,590,711 (GRCm39) missense possibly damaging 0.80
R5082:Mfsd13b UTSW 7 120,598,201 (GRCm39) missense possibly damaging 0.94
R5282:Mfsd13b UTSW 7 120,591,056 (GRCm39) missense probably damaging 0.98
R5296:Mfsd13b UTSW 7 120,590,961 (GRCm39) missense probably damaging 1.00
R5411:Mfsd13b UTSW 7 120,599,346 (GRCm39) missense probably benign 0.03
R6563:Mfsd13b UTSW 7 120,594,690 (GRCm39) missense probably damaging 0.99
R7347:Mfsd13b UTSW 7 120,590,951 (GRCm39) missense probably benign 0.44
R8128:Mfsd13b UTSW 7 120,590,495 (GRCm39) missense possibly damaging 0.79
R8520:Mfsd13b UTSW 7 120,590,586 (GRCm39) missense probably benign
R9583:Mfsd13b UTSW 7 120,598,134 (GRCm39) missense possibly damaging 0.56
Z1176:Mfsd13b UTSW 7 120,590,900 (GRCm39) missense probably benign 0.10
Predicted Primers
Posted On 2014-01-15