Incidental Mutation 'R8520:Mfsd13b'
ID 658592
Institutional Source Beutler Lab
Gene Symbol Mfsd13b
Ensembl Gene ENSMUSG00000030877
Gene Name major facilitator superfamily domain containing 13B
Synonyms 4933427G17Rik
MMRRC Submission 067947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8520 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 120581732-120614010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 120590586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 109 (I109S)
Ref Sequence ENSEMBL: ENSMUSP00000150654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000138177] [ENSMUST00000149535] [ENSMUST00000216241]
AlphaFold A0A1L1SUA2
Predicted Effect probably benign
Transcript: ENSMUST00000033166
AA Change: I109S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: I109S

DomainStartEndE-ValueType
Pfam:MFS_2 9 439 5.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133939
SMART Domains Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877

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 benign
Transcript: ENSMUST00000138177
Predicted Effect probably benign
Transcript: ENSMUST00000149535
AA Change: I109S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115341
Gene: ENSMUSG00000030877
AA Change: I109S

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216241
AA Change: I109S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,423 (GRCm39) F136L possibly damaging Het
A430033K04Rik T A 5: 138,644,968 (GRCm39) N284K possibly damaging Het
Abcb1a T C 5: 8,735,346 (GRCm39) I151T possibly damaging Het
Adam28 C T 14: 68,879,532 (GRCm39) G172D probably damaging Het
Adcy6 A G 15: 98,502,041 (GRCm39) V191A probably benign Het
Ankrd52 T C 10: 128,225,359 (GRCm39) L911P probably damaging Het
C5ar1 A G 7: 15,982,076 (GRCm39) S315P probably damaging Het
Cubn A G 2: 13,313,331 (GRCm39) probably null Het
Dlec1 T C 9: 118,941,277 (GRCm39) S276P probably benign Het
Dnah14 T A 1: 181,481,203 (GRCm39) I1564N probably damaging Het
Dsg2 G A 18: 20,712,508 (GRCm39) G171R probably damaging Het
Dusp13b C A 14: 21,793,538 (GRCm39) G208* probably null Het
Ebf3 A C 7: 136,802,853 (GRCm39) probably null Het
Fbn2 A T 18: 58,171,270 (GRCm39) probably null Het
Fbxo27 A G 7: 28,392,767 (GRCm39) D16G probably benign Het
G6pc3 A G 11: 102,083,934 (GRCm39) S187G probably benign Het
Gucy2d G A 7: 98,121,513 (GRCm39) V995I probably null Het
Hmcn2 C A 2: 31,244,726 (GRCm39) P728T probably damaging Het
Il1r2 T C 1: 40,144,499 (GRCm39) L62P probably damaging Het
Ints7 T C 1: 191,314,603 (GRCm39) S63P probably damaging Het
Lyset T A 12: 102,710,431 (GRCm39) probably null Het
Mcf2l C A 8: 12,930,089 (GRCm39) D36E probably benign Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Mydgf C A 17: 56,490,734 (GRCm39) probably null Het
Nanog A T 6: 122,690,475 (GRCm39) L268F possibly damaging Het
Or12j5 T A 7: 140,084,315 (GRCm39) D19V probably benign Het
Or14a259 A T 7: 86,013,471 (GRCm39) C25S probably benign Het
Otud4 T A 8: 80,385,896 (GRCm39) N256K probably damaging Het
P2rx1 A T 11: 72,899,779 (GRCm39) D128V probably benign Het
Pappa G A 4: 65,254,001 (GRCm39) V1552I probably benign Het
Pax8 A T 2: 24,333,034 (GRCm39) F103I probably damaging Het
Ptk2b T A 14: 66,412,204 (GRCm39) S396C probably damaging Het
Rnf148 A G 6: 23,654,169 (GRCm39) Y276H probably damaging Het
Sec11c A T 18: 65,947,911 (GRCm39) I93L probably damaging Het
Serpinb2 T A 1: 107,450,910 (GRCm39) N217K probably benign Het
Slc2a13 T A 15: 91,457,105 (GRCm39) T66S probably damaging Het
Slc4a3 T C 1: 75,526,506 (GRCm39) M9T probably benign Het
Sord G A 2: 122,087,423 (GRCm39) V176I possibly damaging Het
Thbs4 G A 13: 92,890,792 (GRCm39) Q892* probably null Het
Thsd7b T A 1: 129,849,157 (GRCm39) D956E probably benign Het
Topbp1 T A 9: 103,186,176 (GRCm39) probably null Het
Tst T C 15: 78,289,453 (GRCm39) E194G probably damaging Het
Ttk T A 9: 83,739,380 (GRCm39) S484T possibly damaging Het
U2surp A G 9: 95,384,607 (GRCm39) S26P possibly damaging Het
Ugt2b37 C T 5: 87,388,714 (GRCm39) A500T probably benign Het
Utrn A T 10: 12,545,930 (GRCm39) Y1669* probably null Het
Vmn2r23 A T 6: 123,718,615 (GRCm39) Q656L probably damaging Het
Wdr7 A G 18: 64,120,231 (GRCm39) N1424S probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp984 T A 4: 147,840,668 (GRCm39) Y61F probably benign 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
R1159:Mfsd13b UTSW 7 120,613,766 (GRCm39) missense probably damaging 0.98
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
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 PCR Primer
(F):5'- TACGCTGCTAACAACCATGC -3'
(R):5'- TGTTGTGAGAGATGAGGCCAC -3'

Sequencing Primer
(F):5'- ACCATGCAAACTAATTTCACGTG -3'
(R):5'- GCCACAGAAAAGGATGCTGAC -3'
Posted On 2021-01-18