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
Is this an essential gene? Possibly essential (E-score: 0.561) question?
Stock # IGL03189
Quality Score
Status
Chromosome 3
Chromosomal Location 116631164-116662677 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116641855 bp (GRCm38)
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
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Mfsd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03197:Mfsd14a APN 3 116636363 missense probably benign 0.01
R1166:Mfsd14a UTSW 3 116633894 unclassified probably benign
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
R9229:Mfsd14a UTSW 3 116645469 missense probably benign 0.25
Posted On 2016-08-02