Incidental Mutation 'IGL00809:Mfsd11'
ID11982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd11
Ensembl Gene ENSMUSG00000020818
Gene Namemajor facilitator superfamily domain containing 11
Synonyms2600014M03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL00809
Quality Score
Status
Chromosome11
Chromosomal Location116852440-116875635 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116859351 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 105 (S105T)
Ref Sequence ENSEMBL: ENSMUSP00000123368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000136012] [ENSMUST00000139954] [ENSMUST00000153084]
Predicted Effect probably damaging
Transcript: ENSMUST00000021173
AA Change: S105T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: S105T

DomainStartEndE-ValueType
Pfam:UNC-93 14 166 6.5e-56 PFAM
transmembrane domain 173 190 N/A INTRINSIC
transmembrane domain 239 261 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
transmembrane domain 305 327 N/A INTRINSIC
transmembrane domain 410 432 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106363
AA Change: I88N

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818
AA Change: I88N

DomainStartEndE-ValueType
Pfam:UNC-93 14 92 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106365
AA Change: H96Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818
AA Change: H96Q

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125920
Predicted Effect probably benign
Transcript: ENSMUST00000136012
AA Change: H96Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818
AA Change: H96Q

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139954
AA Change: H96Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
AA Change: H96Q

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151944
Predicted Effect probably damaging
Transcript: ENSMUST00000153084
AA Change: S105T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: S105T

DomainStartEndE-ValueType
Pfam:UNC-93 14 115 7.4e-33 PFAM
transmembrane domain 119 138 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
transmembrane domain 253 275 N/A INTRINSIC
transmembrane domain 358 380 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,235,786 T113A possibly damaging Het
Akap10 T A 11: 61,915,071 N277I possibly damaging Het
Ankrd24 A T 10: 81,643,067 probably benign Het
Bfsp2 T C 9: 103,453,098 E180G possibly damaging Het
Cd55 A T 1: 130,452,511 Y243* probably null Het
Col17a1 G T 19: 47,681,403 H103Q probably damaging Het
Diaph3 A T 14: 87,000,027 H311Q probably damaging Het
Dnah1 G A 14: 31,300,809 Q1124* probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fzr1 G T 10: 81,370,525 S137* probably null Het
Gnl3 A G 14: 31,014,189 I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,013 G65S probably damaging Het
Hsd17b7 A T 1: 169,965,755 Y88* probably null Het
Itga2 C A 13: 114,877,625 A256S probably damaging Het
Itga7 T C 10: 128,939,169 probably null Het
Ivl T A 3: 92,572,512 Q82L possibly damaging Het
Lin28a C T 4: 134,008,056 G90S probably damaging Het
Lkaaear1 A T 2: 181,697,334 S108T probably benign Het
Mpp6 C T 6: 50,196,589 R478C probably benign Het
Osbpl9 C T 4: 109,133,763 R100H probably damaging Het
Pclo T A 5: 14,675,797 D1556E unknown Het
Phip G A 9: 82,871,303 S1796F probably damaging Het
Phtf1 T C 3: 103,988,667 S226P probably benign Het
Rapgef6 C A 11: 54,649,300 Q734K probably damaging Het
Scn9a A T 2: 66,483,935 I1802N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stab2 A T 10: 86,848,174 probably benign Het
Trpc7 T C 13: 56,822,488 I373V probably benign Het
Ttbk2 T A 2: 120,760,269 D303V probably damaging Het
Ylpm1 T C 12: 85,049,194 I1163T probably damaging Het
Other mutations in Mfsd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Mfsd11 APN 11 116858496 missense probably benign 0.39
IGL01999:Mfsd11 APN 11 116861585 missense probably damaging 0.99
IGL02182:Mfsd11 APN 11 116873914 missense possibly damaging 0.50
IGL02582:Mfsd11 APN 11 116873875 missense probably damaging 0.99
IGL02794:Mfsd11 APN 11 116859351 missense probably damaging 0.97
R0416:Mfsd11 UTSW 11 116865882 splice site probably benign
R1229:Mfsd11 UTSW 11 116873297 missense probably damaging 1.00
R1397:Mfsd11 UTSW 11 116873297 missense probably damaging 1.00
R1929:Mfsd11 UTSW 11 116873914 missense probably benign 0.00
R2081:Mfsd11 UTSW 11 116861555 missense possibly damaging 0.92
R4554:Mfsd11 UTSW 11 116861580 missense probably damaging 0.97
R5888:Mfsd11 UTSW 11 116871384 missense probably damaging 1.00
R6959:Mfsd11 UTSW 11 116861669 critical splice donor site probably null
R7807:Mfsd11 UTSW 11 116863907 missense probably benign
R8073:Mfsd11 UTSW 11 116863923 missense probably benign
X0018:Mfsd11 UTSW 11 116854085 missense probably benign 0.21
Z1176:Mfsd11 UTSW 11 116863940 missense probably damaging 1.00
Posted On2012-12-06