Incidental Mutation 'R1166:Mfsd14a'
ID101000
Institutional Source Beutler Lab
Gene Symbol Mfsd14a
Ensembl Gene ENSMUSG00000089911
Gene Namemajor facilitator superfamily domain containing 14A
SynonymsHiat1
MMRRC Submission 039239-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.566) question?
Stock #R1166 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location116631164-116662677 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 116633894 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029570] [ENSMUST00000029571] [ENSMUST00000197335] [ENSMUST00000198311]
Predicted Effect probably benign
Transcript: ENSMUST00000029570
SMART Domains Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911

DomainStartEndE-ValueType
Pfam:MFS_1 40 388 3.4e-33 PFAM
Pfam:MFS_2 182 407 3.6e-10 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029571
SMART Domains Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:SAS-6_N 44 141 1.7e-29 PFAM
low complexity region 223 235 N/A INTRINSIC
coiled coil region 415 471 N/A INTRINSIC
low complexity region 632 644 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196274
Predicted Effect probably benign
Transcript: ENSMUST00000197335
SMART Domains Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959

DomainStartEndE-ValueType
PDB:2Y3W|C 7 136 3e-48 PDB
low complexity region 188 200 N/A INTRINSIC
coiled coil region 380 436 N/A INTRINSIC
low complexity region 597 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198035
Predicted Effect probably benign
Transcript: ENSMUST00000198311
SMART Domains Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
PDB:2Y3W|C 15 171 9e-62 PDB
low complexity region 223 235 N/A INTRINSIC
coiled coil region 415 471 N/A INTRINSIC
low complexity region 632 644 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198747
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.0%
  • 20x: 86.3%
Validation Efficiency 96% (43/45)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, globozoospermia, and defects in spermiogenesis and acrosome formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,570,917 K286R probably benign Het
Arhgef10l T C 4: 140,575,270 probably benign Het
Ccdc175 T G 12: 72,105,932 K733T probably damaging Het
Cenpn T G 8: 116,926,207 I39R probably damaging Het
Cfap53 A T 18: 74,300,180 Y112F possibly damaging Het
Cngb1 C A 8: 95,260,181 C361F probably damaging Het
Ctf2 T C 7: 127,719,513 T105A probably benign Het
Dnah7b A T 1: 46,325,810 T3584S probably damaging Het
Ebf3 C T 7: 137,313,167 probably benign Het
Ep300 A G 15: 81,630,064 probably benign Het
Fbxo17 T A 7: 28,733,528 V158E probably damaging Het
Fbxw24 T C 9: 109,606,998 E322G probably benign Het
Gm5698 G T 1: 30,977,285 D228E probably damaging Het
Gm884 A G 11: 103,615,383 S1920P probably benign Het
Hfm1 A T 5: 106,911,411 D248E probably benign Het
Insm2 T C 12: 55,600,496 S342P probably benign Het
Krt36 G A 11: 100,102,828 R395C probably benign Het
Lsm14b T A 2: 180,031,541 probably benign Het
Map1a A G 2: 121,300,260 E519G probably damaging Het
Mfsd4b5 T C 10: 39,970,423 Y387C probably damaging Het
Mybpc2 T C 7: 44,505,025 N1063D possibly damaging Het
Nlrp10 T A 7: 108,925,010 H421L probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1254 A G 2: 89,789,331 V7A possibly damaging Het
Pacrg A T 17: 10,403,339 Y235* probably null Het
Pde4dip T A 3: 97,713,196 D1629V possibly damaging Het
Prl8a2 G T 13: 27,353,952 S204I possibly damaging Het
Sec24a A T 11: 51,733,467 M356K possibly damaging Het
Sh3tc2 A C 18: 61,991,176 S972R probably damaging Het
Shc2 C T 10: 79,621,112 V557M probably damaging Het
Slc2a9 A G 5: 38,382,041 probably null Het
Tcaf1 T C 6: 42,678,678 I455V probably benign Het
Umodl1 T G 17: 31,002,798 probably benign Het
Wdr27 T C 17: 14,892,471 T658A probably damaging Het
Zfp318 T C 17: 46,409,692 Y1119H possibly damaging Het
Zfp939 C A 7: 39,473,339 noncoding transcript Het
Other mutations in Mfsd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03189:Mfsd14a APN 3 116641855 missense probably benign 0.16
IGL03197:Mfsd14a APN 3 116636363 missense probably benign 0.01
R1796:Mfsd14a UTSW 3 116634947 missense probably damaging 1.00
R1842:Mfsd14a UTSW 3 116632408 missense possibly damaging 0.93
R1871:Mfsd14a UTSW 3 116641320 missense probably benign 0.11
R2155:Mfsd14a UTSW 3 116647830 missense probably damaging 1.00
R2176:Mfsd14a UTSW 3 116632393 missense probably benign 0.00
R3078:Mfsd14a UTSW 3 116647917 splice site probably benign
R4451:Mfsd14a UTSW 3 116662478 start codon destroyed probably null 0.77
R4794:Mfsd14a UTSW 3 116645506 intron probably benign
R5197:Mfsd14a UTSW 3 116648501 intron probably benign
R5868:Mfsd14a UTSW 3 116633750 missense probably benign
R7098:Mfsd14a UTSW 3 116641712 missense probably benign 0.22
R7603:Mfsd14a UTSW 3 116633883 missense probably damaging 0.97
R7836:Mfsd14a UTSW 3 116648551 missense possibly damaging 0.95
R7919:Mfsd14a UTSW 3 116648551 missense possibly damaging 0.95
Predicted Primers
Posted On2014-01-15