Incidental Mutation 'R5103:Mfsd14b'
ID 392504
Institutional Source Beutler Lab
Gene Symbol Mfsd14b
Ensembl Gene ENSMUSG00000038212
Gene Name major facilitator superfamily domain containing 14B
Synonyms 5730414C17Rik, Hiatl1
MMRRC Submission 042691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R5103 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 65212844-65260813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65234907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 90 (V90A)
Ref Sequence ENSEMBL: ENSMUSP00000118180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054730] [ENSMUST00000155487]
AlphaFold Q8CIA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000054730
AA Change: V90A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: V90A

DomainStartEndE-ValueType
Pfam:MFS_1 50 396 4.5e-33 PFAM
transmembrane domain 428 450 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155487
AA Change: V90A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: V90A

DomainStartEndE-ValueType
Pfam:MFS_1 50 396 4.6e-33 PFAM
transmembrane domain 428 450 N/A INTRINSIC
Meta Mutation Damage Score 0.2127 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 99% (82/83)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,051,345 (GRCm39) R518H probably damaging Het
Agfg1 T C 1: 82,871,288 (GRCm39) S486P probably damaging Het
Arhgap18 A G 10: 26,745,978 (GRCm39) D283G probably damaging Het
Asb1 A G 1: 91,480,066 (GRCm39) N162S possibly damaging Het
Capn1 A G 19: 6,059,140 (GRCm39) Y274H probably damaging Het
Cdk5 A T 5: 24,627,833 (GRCm39) V30E probably damaging Het
Cep290 T G 10: 100,374,882 (GRCm39) L1376W probably damaging Het
Crybg1 T A 10: 43,873,944 (GRCm39) T1055S probably damaging Het
Cyp2c70 A G 19: 40,149,076 (GRCm39) Y357H probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Eml6 T A 11: 29,800,905 (GRCm39) E367V possibly damaging Het
Emp1 A G 6: 135,358,073 (GRCm39) T140A probably benign Het
Ergic3 T C 2: 155,850,545 (GRCm39) V74A probably benign Het
Fancm A T 12: 65,152,632 (GRCm39) L1029F probably damaging Het
Fank1 C A 7: 133,478,570 (GRCm39) C210* probably null Het
Fbxo31 T C 8: 122,279,101 (GRCm39) D462G probably damaging Het
Frem1 G A 4: 82,909,849 (GRCm39) A736V probably benign Het
Fshr T C 17: 89,404,796 (GRCm39) T56A possibly damaging Het
Gm5901 A T 7: 105,026,589 (GRCm39) probably null Het
Golga2 A G 2: 32,193,758 (GRCm39) E458G probably benign Het
Grik2 T A 10: 49,372,205 (GRCm39) I335F probably benign Het
Grin1 T A 2: 25,200,433 (GRCm39) M230L probably benign Het
Gtf2f1 C T 17: 57,311,519 (GRCm39) G297D probably damaging Het
H2-T5 T C 17: 36,472,577 (GRCm39) probably benign Het
Hacd1 T C 2: 14,045,724 (GRCm39) T136A probably damaging Het
Hdac5 T A 11: 102,087,109 (GRCm39) S24C probably damaging Het
Jtb T C 3: 90,139,394 (GRCm39) probably benign Het
Kif1a C T 1: 92,974,418 (GRCm39) G979E probably damaging Het
Mark2 T C 19: 7,261,868 (GRCm39) M345V probably damaging Het
Micu1 T C 10: 59,624,806 (GRCm39) Y283H possibly damaging Het
Mmp2 C T 8: 93,558,413 (GRCm39) R161* probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Msh5 T C 17: 35,248,215 (GRCm39) I783V possibly damaging Het
Myo3b T A 2: 69,926,747 (GRCm39) F65I probably benign Het
Nat10 C A 2: 103,587,605 (GRCm39) V37L probably damaging Het
Nlrp1a T A 11: 70,990,352 (GRCm39) T967S probably damaging Het
Nolc1 A T 19: 46,070,103 (GRCm39) K291* probably null Het
Or1j18 A T 2: 36,624,680 (GRCm39) T116S probably benign Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or8d2b G T 9: 38,788,872 (GRCm39) M133I probably damaging Het
Or8u8 C A 2: 86,011,960 (GRCm39) R165L probably benign Het
Paip1 A G 13: 119,574,515 (GRCm39) E70G possibly damaging Het
Palmd T A 3: 116,721,070 (GRCm39) E127V probably damaging Het
Paqr6 T A 3: 88,275,024 (GRCm39) C262* probably null Het
Pdcd11 A G 19: 47,112,893 (GRCm39) H1301R probably benign Het
Plce1 C A 19: 38,755,659 (GRCm39) D1896E probably damaging Het
Ppib A G 9: 65,968,747 (GRCm39) probably null Het
Pzp C T 6: 128,479,192 (GRCm39) V654M probably benign Het
Rab26 T C 17: 24,753,071 (GRCm39) probably benign Het
Recql4 A G 15: 76,590,956 (GRCm39) L468P probably damaging Het
Retreg1 C T 15: 25,968,540 (GRCm39) Q65* probably null Het
Rhpn1 C T 15: 75,586,064 (GRCm39) T659I possibly damaging Het
Rmc1 A G 18: 12,322,319 (GRCm39) I591V probably benign Het
Slc12a5 C A 2: 164,834,353 (GRCm39) H791Q probably damaging Het
Slc40a1 G A 1: 45,958,155 (GRCm39) Q93* probably null Het
Slc4a1 T C 11: 102,244,087 (GRCm39) M681V possibly damaging Het
Slc6a9 T A 4: 117,725,352 (GRCm39) F493L probably benign Het
Smc2 A G 4: 52,459,033 (GRCm39) E476G probably damaging Het
Smco4 G T 9: 15,456,090 (GRCm39) E59* probably null Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stat4 T A 1: 52,111,054 (GRCm39) L167Q probably damaging Het
Sult1e1 C A 5: 87,724,091 (GRCm39) V289L probably benign Het
Tbc1d4 C A 14: 101,696,318 (GRCm39) E877* probably null Het
Tenm4 A T 7: 96,492,164 (GRCm39) I1033F probably damaging Het
Tppp2 T A 14: 52,156,909 (GRCm39) F95L probably benign Het
Trappc14 A G 5: 138,260,562 (GRCm39) V288A probably benign Het
Vmn2r41 G A 7: 8,141,341 (GRCm39) L708F probably benign Het
Washc5 G A 15: 59,222,018 (GRCm39) P126L probably damaging Het
Xkr4 T C 1: 3,740,911 (GRCm39) I221V probably benign Het
Xkr5 T C 8: 18,983,659 (GRCm39) R628G probably benign Het
Zfp207 T C 11: 80,282,736 (GRCm39) L233P probably damaging Het
Zfp827 T A 8: 79,797,032 (GRCm39) C373S probably damaging Het
Other mutations in Mfsd14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Mfsd14b APN 13 65,214,515 (GRCm39) missense probably benign 0.00
IGL01935:Mfsd14b APN 13 65,215,739 (GRCm39) missense probably benign
IGL01957:Mfsd14b APN 13 65,234,907 (GRCm39) missense possibly damaging 0.90
R0555:Mfsd14b UTSW 13 65,226,259 (GRCm39) missense probably benign 0.34
R0601:Mfsd14b UTSW 13 65,234,964 (GRCm39) missense possibly damaging 0.88
R0988:Mfsd14b UTSW 13 65,260,307 (GRCm39) splice site probably benign
R1136:Mfsd14b UTSW 13 65,243,506 (GRCm39) missense probably benign 0.22
R1494:Mfsd14b UTSW 13 65,243,485 (GRCm39) missense probably damaging 1.00
R2087:Mfsd14b UTSW 13 65,215,796 (GRCm39) missense probably damaging 1.00
R4223:Mfsd14b UTSW 13 65,214,422 (GRCm39) utr 3 prime probably benign
R5568:Mfsd14b UTSW 13 65,219,936 (GRCm39) splice site probably null
R5603:Mfsd14b UTSW 13 65,221,420 (GRCm39) missense probably benign 0.00
R6181:Mfsd14b UTSW 13 65,260,398 (GRCm39) missense probably benign 0.00
R6330:Mfsd14b UTSW 13 65,243,500 (GRCm39) missense probably damaging 1.00
R6649:Mfsd14b UTSW 13 65,214,599 (GRCm39) missense probably damaging 1.00
R7460:Mfsd14b UTSW 13 65,219,837 (GRCm39) missense probably damaging 1.00
R7605:Mfsd14b UTSW 13 65,214,591 (GRCm39) missense probably benign
R9034:Mfsd14b UTSW 13 65,223,500 (GRCm39) missense probably damaging 1.00
R9268:Mfsd14b UTSW 13 65,222,855 (GRCm39) missense probably damaging 1.00
R9545:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9597:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9598:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9598:Mfsd14b UTSW 13 65,214,522 (GRCm39) missense probably benign 0.00
R9633:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9672:Mfsd14b UTSW 13 65,260,320 (GRCm39) missense probably benign 0.00
R9696:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9698:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9702:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9755:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9756:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9783:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9801:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9802:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
R9803:Mfsd14b UTSW 13 65,221,414 (GRCm39) missense probably benign 0.00
X0017:Mfsd14b UTSW 13 65,219,867 (GRCm39) missense probably benign 0.08
X0027:Mfsd14b UTSW 13 65,219,825 (GRCm39) missense probably benign 0.16
X0063:Mfsd14b UTSW 13 65,226,299 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACCCCAGTAGAGTAACAGGGAC -3'
(R):5'- GTAGCCCTGGAATTTGCTCATTTG -3'

Sequencing Primer
(F):5'- CAGTAGAGTAACAGGGACAACAACC -3'
(R):5'- CCTGGAATTTGCTCATTTGTTTGTC -3'
Posted On 2016-06-15