Incidental Mutation 'R7603:Mfsd14a'
ID 588107
Institutional Source Beutler Lab
Gene Symbol Mfsd14a
Ensembl Gene ENSMUSG00000089911
Gene Name major facilitator superfamily domain containing 14A
Synonyms Hiat1
MMRRC Submission 045713-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R7603 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 116424813-116456264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116427532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 369 (V369F)
Ref Sequence ENSEMBL: ENSMUSP00000029570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029570] [ENSMUST00000029571] [ENSMUST00000197335] [ENSMUST00000198311]
AlphaFold P70187
Predicted Effect probably damaging
Transcript: ENSMUST00000029570
AA Change: V369F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: V369F

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 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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (47/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,071,084 (GRCm39) K1536E possibly damaging Het
Abhd16a T A 17: 35,320,936 (GRCm39) probably null Het
Actrt3 C T 3: 30,652,696 (GRCm39) A133T probably benign Het
Adcy10 C T 1: 165,391,806 (GRCm39) R1329W probably damaging Het
Apol7b T C 15: 77,307,656 (GRCm39) M280V possibly damaging Het
Canx A T 11: 50,202,455 (GRCm39) D50E probably benign Het
Csmd1 A T 8: 16,338,696 (GRCm39) D470E probably damaging Het
Cyp2c23 C T 19: 44,003,369 (GRCm39) D269N probably damaging Het
Ddah1 T C 3: 145,464,774 (GRCm39) V53A probably benign Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fastkd5 A G 2: 130,456,961 (GRCm39) V543A possibly damaging Het
Fggy G A 4: 95,657,743 (GRCm39) G295R probably damaging Het
Frs2 T C 10: 116,909,968 (GRCm39) T465A probably benign Het
Glipr1 A T 10: 111,824,737 (GRCm39) N156K probably benign Het
Gnpnat1 C T 14: 45,622,074 (GRCm39) V40I probably benign Het
H2-Q7 T C 17: 35,658,939 (GRCm39) L130P probably damaging Het
Herc1 T A 9: 66,358,665 (GRCm39) L86* probably null Het
Hspg2 T C 4: 137,275,679 (GRCm39) L2778P probably damaging Het
Hspg2 T A 4: 137,284,503 (GRCm39) I3487N possibly damaging Het
Htra4 T G 8: 25,515,716 (GRCm39) I441L probably benign Het
Ints7 A T 1: 191,328,336 (GRCm39) H203L probably damaging Het
Lama2 T C 10: 27,142,676 (GRCm39) T601A possibly damaging Het
Lin7b T C 7: 45,017,856 (GRCm39) probably benign Het
Lmbr1l G A 15: 98,806,572 (GRCm39) Q280* probably null Het
Lpin3 G T 2: 160,745,674 (GRCm39) probably null Het
Map1lc3b A T 8: 122,320,268 (GRCm39) H27L possibly damaging Het
Ndufa12 C T 10: 94,056,641 (GRCm39) A123V probably benign Het
Nek9 A G 12: 85,350,288 (GRCm39) F929L probably benign Het
Nup210 A T 6: 91,053,679 (GRCm39) D279E probably benign Het
Or52m2 A G 7: 102,264,145 (GRCm39) V17A probably benign Het
Parp1 T C 1: 180,427,777 (GRCm39) probably null Het
Phc3 T C 3: 30,961,601 (GRCm39) I944V probably damaging Het
Phf20 C T 2: 156,144,771 (GRCm39) A793V probably benign Het
Phf21a A C 2: 92,187,352 (GRCm39) R540S probably benign Het
Pogk A G 1: 166,229,480 (GRCm39) C124R probably benign Het
Rif1 C T 2: 51,966,187 (GRCm39) S93L probably damaging Het
Sanbr T C 11: 23,516,191 (GRCm39) T709A probably benign Het
Sele A G 1: 163,877,084 (GRCm39) E120G probably damaging Het
Slc4a1ap T C 5: 31,703,539 (GRCm39) L49P Het
Snap47 T C 11: 59,319,373 (GRCm39) D255G probably damaging Het
Tcstv3 T C 13: 120,779,146 (GRCm39) V15A probably damaging Het
Tmcc1 A T 6: 116,020,092 (GRCm39) Y453* probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Usp20 T A 2: 30,901,486 (GRCm39) V459E probably damaging Het
Vmn1r202 A T 13: 22,685,790 (GRCm39) L209Q probably damaging Het
Vps13b T C 15: 35,576,585 (GRCm39) S998P probably damaging Het
Other mutations in Mfsd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03189:Mfsd14a APN 3 116,435,504 (GRCm39) missense probably benign 0.16
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
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
Predicted Primers PCR Primer
(F):5'- CTTAAGGCCTATTCATGCTAGAAAG -3'
(R):5'- CTTATGTTATGCCTGGGCCTGC -3'

Sequencing Primer
(F):5'- GGCCTATTCATGCTAGAAAGTTTTAC -3'
(R):5'- ATGCCTGGGCCTGCATTTG -3'
Posted On 2019-10-24