Incidental Mutation 'R7807:Mfsd11'
ID600881
Institutional Source Beutler Lab
Gene Symbol Mfsd11
Ensembl Gene ENSMUSG00000020818
Gene Namemajor facilitator superfamily domain containing 11
Synonyms2600014M03Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R7807 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location116852440-116875635 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 116863907 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 215 (S215A)
Ref Sequence ENSEMBL: ENSMUSP00000021173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000136012] [ENSMUST00000139954] [ENSMUST00000153084]
Predicted Effect probably benign
Transcript: ENSMUST00000021173
AA Change: S215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: S215A

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 probably benign
Transcript: ENSMUST00000106363
SMART Domains Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 92 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106365
SMART Domains Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136012
SMART Domains Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139954
SMART Domains Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153084
AA Change: S163A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: S163A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,710,865 K1092E probably damaging Het
AB124611 C A 9: 21,535,980 T146K probably benign Het
Alms1 T A 6: 85,622,976 S1595T possibly damaging Het
Ankrd44 A T 1: 54,792,476 I56N probably damaging Het
Anln C A 9: 22,360,880 V648F probably damaging Het
Arhgap29 A G 3: 122,014,332 D1053G probably benign Het
Baalc T C 15: 38,934,017 S68P probably benign Het
Begain T C 12: 109,038,930 D52G probably damaging Het
Blmh A G 11: 76,946,214 I41V probably benign Het
Bpifc T A 10: 85,976,250 I365F possibly damaging Het
C2 G T 17: 34,876,371 S199R possibly damaging Het
Ccbe1 T A 18: 66,066,757 H298L probably damaging Het
Ccdc112 T A 18: 46,290,759 K304I probably damaging Het
Ccdc15 T C 9: 37,315,382 E432G probably benign Het
Cdh13 T A 8: 118,283,855 M1K probably null Het
Cipc T C 12: 86,962,125 S253P possibly damaging Het
Clcn1 A G 6: 42,310,348 probably null Het
Clock A T 5: 76,243,135 N273K probably benign Het
Cyp19a1 T C 9: 54,166,842 D476G probably benign Het
Dnah7b A G 1: 46,214,367 I1811V probably benign Het
Fat1 C A 8: 45,041,973 T4091K probably damaging Het
Gm10340 T A 14: 3,134,925 N64K probably damaging Het
Gm12394 A C 4: 42,793,885 H82Q probably benign Het
Hectd1 G A 12: 51,745,388 R2523C probably damaging Het
Hgf A G 5: 16,577,011 H244R probably damaging Het
Hgs G T 11: 120,479,934 A567S probably damaging Het
Igdcc4 T C 9: 65,133,795 V1036A probably benign Het
Keg1 G A 19: 12,714,634 probably null Het
Klhl8 A T 5: 103,876,066 L156Q probably damaging Het
Lmln T C 16: 33,107,131 Y521H probably benign Het
Lrrc7 A G 3: 158,160,487 S1206P probably damaging Het
Mad1l1 T A 5: 140,088,786 I550F probably benign Het
Marf1 C T 16: 14,153,889 W28* probably null Het
Mpped2 C A 2: 106,744,740 H57N possibly damaging Het
Mslnl A G 17: 25,746,777 M542V probably benign Het
Myh6 G T 14: 54,942,440 H1903Q probably damaging Het
Neo1 T C 9: 58,990,494 T60A probably benign Het
Npm2 T A 14: 70,652,507 probably null Het
Olfr1165-ps T C 2: 88,101,565 S141G probably benign Het
Olfr1355 T A 10: 78,879,209 S12R probably benign Het
Olfr1487 C A 19: 13,619,921 T210K probably damaging Het
Pax9 A T 12: 56,697,065 I166F possibly damaging Het
Pcsk9 A G 4: 106,463,895 S6P possibly damaging Het
Pikfyve A G 1: 65,269,942 Y1893C probably damaging Het
Pirb T C 7: 3,719,865 T43A possibly damaging Het
Pou3f1 A G 4: 124,658,281 D192G possibly damaging Het
Pus3 C G 9: 35,566,725 R418G probably damaging Het
Rexo1 C T 10: 80,550,136 V363I probably benign Het
Sdcbp A G 4: 6,393,688 T269A probably damaging Het
Sele T C 1: 164,053,893 V523A probably benign Het
Serpinb8 T A 1: 107,604,727 M183K probably damaging Het
Sh2d4a T G 8: 68,282,381 S51A probably benign Het
Siglec15 A G 18: 78,047,481 S201P probably damaging Het
Slc10a5 C T 3: 10,335,469 V44I probably benign Het
Slc16a13 A G 11: 70,220,562 V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 R184W probably damaging Het
Slc35f5 T A 1: 125,584,541 D359E probably damaging Het
Slc3a1 A G 17: 85,063,943 E641G probably benign Het
Slf1 T C 13: 77,046,704 D834G probably damaging Het
Stim1 T C 7: 102,427,141 I433T probably damaging Het
Stra6 T A 9: 58,150,161 I418K probably damaging Het
Tanc2 A G 11: 105,867,654 N747S probably benign Het
Tet2 T C 3: 133,486,541 T711A possibly damaging Het
Trpm6 T C 19: 18,829,856 I988T probably benign Het
Ttc41 T A 10: 86,776,631 I1256N probably benign Het
Uba2 T C 7: 34,163,213 D100G possibly damaging Het
Vmn1r43 A G 6: 89,870,237 I89T probably benign Het
Vmn2r58 T A 7: 41,872,486 Y62F probably benign Het
Ylpm1 C T 12: 85,014,081 Q428* probably null Het
Zcrb1 T C 15: 93,391,121 D88G probably damaging Het
Zmym1 A C 4: 127,047,874 I907S probably damaging Het
Other mutations in Mfsd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Mfsd11 APN 11 116858496 missense probably benign 0.39
IGL00809:Mfsd11 APN 11 116859351 missense probably damaging 0.97
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
R7990:Mfsd11 UTSW 11 116859497 missense possibly damaging 0.84
R8073:Mfsd11 UTSW 11 116863923 missense probably benign
R8692:Mfsd11 UTSW 11 116861617 missense probably benign
R8851:Mfsd11 UTSW 11 116861653 missense probably benign
R8887:Mfsd11 UTSW 11 116854700 critical splice donor site probably null
R8954:Mfsd11 UTSW 11 116859336 missense probably damaging 0.98
X0018:Mfsd11 UTSW 11 116854085 missense probably benign 0.21
Z1176:Mfsd11 UTSW 11 116863940 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGCTCTAGACACATTGGTC -3'
(R):5'- ACACTGGTGGAGAAACTGGC -3'

Sequencing Primer
(F):5'- AAATCTGTCTGGCTTGGAACTC -3'
(R):5'- ACTGGCGTACCTGGAAGACTG -3'
Posted On2019-11-26