Incidental Mutation 'IGL03189:Mfsd14a'
ID 412589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd14a
Ensembl Gene ENSMUSG00000089911
Gene Name major facilitator superfamily domain containing 14A
Synonyms Hiat1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # IGL03189
Quality Score
Status
Chromosome 3
Chromosomal Location 116424813-116456264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116435504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 187 (D187G)
Ref Sequence ENSEMBL: ENSMUSP00000029570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029570]
AlphaFold P70187
Predicted Effect probably benign
Transcript: ENSMUST00000029570
AA Change: D187G

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: D187G

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 noncoding transcript
Transcript: ENSMUST00000130631
Predicted Effect probably benign
Transcript: ENSMUST00000140672
SMART Domains Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 2 129 2.4e-39 PFAM
Pfam:MFS_1 104 235 1e-13 PFAM
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,895,814 (GRCm39) T916A probably benign Het
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Car11 A G 7: 45,351,879 (GRCm39) T103A probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Col20a1 C T 2: 180,651,200 (GRCm39) Q1089* probably null Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hdgf A G 3: 87,820,735 (GRCm39) T62A possibly damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Nop14 A G 5: 34,807,972 (GRCm39) probably benign Het
Or2ah1 A G 2: 85,653,902 (GRCm39) T196A probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I probably benign Het
Other mutations in Mfsd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03197:Mfsd14a APN 3 116,430,012 (GRCm39) missense probably benign 0.01
R1166:Mfsd14a UTSW 3 116,427,543 (GRCm39) unclassified probably benign
R1796:Mfsd14a UTSW 3 116,428,596 (GRCm39) missense probably damaging 1.00
R1842:Mfsd14a UTSW 3 116,426,057 (GRCm39) missense possibly damaging 0.93
R1871:Mfsd14a UTSW 3 116,434,969 (GRCm39) missense probably benign 0.11
R2155:Mfsd14a UTSW 3 116,441,479 (GRCm39) missense probably damaging 1.00
R2176:Mfsd14a UTSW 3 116,426,042 (GRCm39) missense probably benign 0.00
R3078:Mfsd14a UTSW 3 116,441,566 (GRCm39) splice site probably benign
R4451:Mfsd14a UTSW 3 116,456,127 (GRCm39) start codon destroyed probably null 0.77
R4794:Mfsd14a UTSW 3 116,439,155 (GRCm39) intron probably benign
R5197:Mfsd14a UTSW 3 116,442,150 (GRCm39) intron probably benign
R5868:Mfsd14a UTSW 3 116,427,399 (GRCm39) missense probably benign
R7098:Mfsd14a UTSW 3 116,435,361 (GRCm39) missense probably benign 0.22
R7603:Mfsd14a UTSW 3 116,427,532 (GRCm39) missense probably damaging 0.97
R7836:Mfsd14a UTSW 3 116,442,200 (GRCm39) missense possibly damaging 0.95
R9229:Mfsd14a UTSW 3 116,439,118 (GRCm39) missense probably benign 0.25
Posted On 2016-08-02