Incidental Mutation 'IGL02817:Myo1f'
ID360834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo1f
Ensembl Gene ENSMUSG00000024300
Gene Namemyosin IF
SynonymsC330006B10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL02817
Quality Score
Status
Chromosome17
Chromosomal Location33555719-33607764 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33604558 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 1020 (R1020K)
Ref Sequence ENSEMBL: ENSMUSP00000084887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087605] [ENSMUST00000173372]
Predicted Effect probably benign
Transcript: ENSMUST00000087605
AA Change: R1020K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: R1020K

DomainStartEndE-ValueType
MYSc 11 691 N/A SMART
IQ 692 714 7.57e0 SMART
Pfam:Myosin_TH1 717 909 1.7e-51 PFAM
low complexity region 939 952 N/A INTRINSIC
low complexity region 973 987 N/A INTRINSIC
low complexity region 991 1001 N/A INTRINSIC
SH3 1044 1098 2.09e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173372
SMART Domains Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300

DomainStartEndE-ValueType
MYSc 11 691 N/A SMART
IQ 692 714 7.57e0 SMART
Pfam:Myosin_TH1 716 780 6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173426
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 35,100,649 V12A probably damaging Het
Ash1l C A 3: 88,984,801 P1329H probably damaging Het
Bpifb3 T C 2: 153,919,646 V5A unknown Het
Cep350 A G 1: 155,928,842 S832P probably damaging Het
Chd1 A T 17: 15,749,500 H947L possibly damaging Het
Clec4b1 A T 6: 123,068,485 H88L possibly damaging Het
Col4a1 A G 8: 11,220,259 L859P probably damaging Het
Cyp2f2 T A 7: 27,129,315 N203K probably damaging Het
Dgka G A 10: 128,730,228 T351I probably benign Het
Dmc1 G A 15: 79,588,763 T161I probably damaging Het
Dnah8 A G 17: 30,668,295 N688D probably benign Het
Dpy19l3 A G 7: 35,692,808 L653P probably damaging Het
Drc3 A G 11: 60,384,236 E341G probably benign Het
Fam155a A T 8: 9,207,994 C385S probably damaging Het
Fcrl5 T G 3: 87,435,913 V10G probably benign Het
Fgfr4 T C 13: 55,156,668 probably null Het
Gli2 T C 1: 118,836,371 H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 S30P probably benign Het
Grik4 T C 9: 42,622,939 N349S probably benign Het
Ifnar2 G T 16: 91,387,992 K90N probably benign Het
Kcp A T 6: 29,496,969 I547N probably damaging Het
L3mbtl4 A T 17: 68,630,254 E423D probably benign Het
Mapkap1 T C 2: 34,563,118 L341P probably damaging Het
Mdm1 A G 10: 118,164,346 Q618R possibly damaging Het
Medag A T 5: 149,427,038 R51* probably null Het
Myrf T C 19: 10,225,452 N153D probably benign Het
Naf1 T C 8: 66,883,525 I368T probably damaging Het
Ncapd2 A G 6: 125,170,914 probably null Het
Nsfl1c T A 2: 151,500,731 S74T probably damaging Het
Olfr1097 T C 2: 86,890,593 N194S probably benign Het
Olfr435 A T 6: 43,202,059 R138S probably benign Het
Olfr780 A G 10: 129,321,895 T91A probably benign Het
Ptgfrn T A 3: 101,060,752 E508D probably benign Het
Ryr3 C A 2: 112,844,623 probably null Het
Snx27 A G 3: 94,503,463 L460P probably damaging Het
Sp4 G T 12: 118,299,552 T253K probably damaging Het
Trio T C 15: 27,902,881 I165V probably benign Het
Txnl4b A G 8: 109,572,846 Y146C probably damaging Het
Vmn1r42 A G 6: 89,845,536 M17T probably damaging Het
Zer1 T C 2: 30,103,394 I567V probably damaging Het
Other mutations in Myo1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00851:Myo1f APN 17 33581964 missense probably benign 0.01
IGL01019:Myo1f APN 17 33593003 missense possibly damaging 0.93
IGL01524:Myo1f APN 17 33579883 missense probably damaging 1.00
IGL01744:Myo1f APN 17 33583680 splice site probably benign
IGL01951:Myo1f APN 17 33598017 missense possibly damaging 0.64
IGL02132:Myo1f APN 17 33579971 missense probably benign 0.10
IGL02170:Myo1f APN 17 33578272 missense probably benign 0.14
IGL02173:Myo1f APN 17 33607344 missense probably damaging 1.00
IGL02277:Myo1f APN 17 33579861 splice site probably null
IGL02550:Myo1f APN 17 33588142 missense probably damaging 1.00
IGL02550:Myo1f APN 17 33580150 unclassified probably benign
IGL02615:Myo1f APN 17 33604656 missense probably benign
IGL02801:Myo1f APN 17 33578137 missense probably damaging 1.00
IGL02904:Myo1f APN 17 33585658 nonsense probably null
IGL03056:Myo1f APN 17 33585600 missense probably damaging 1.00
IGL03334:Myo1f APN 17 33598194 missense probably damaging 1.00
R0066:Myo1f UTSW 17 33601703 missense probably damaging 0.98
R0066:Myo1f UTSW 17 33601703 missense probably damaging 0.98
R0321:Myo1f UTSW 17 33593012 missense probably benign 0.31
R0375:Myo1f UTSW 17 33601956 missense probably benign 0.27
R0487:Myo1f UTSW 17 33578284 missense probably damaging 1.00
R0925:Myo1f UTSW 17 33578133 missense probably damaging 0.96
R1394:Myo1f UTSW 17 33583740 missense probably damaging 0.96
R1395:Myo1f UTSW 17 33583740 missense probably damaging 0.96
R1474:Myo1f UTSW 17 33594027 missense possibly damaging 0.77
R1760:Myo1f UTSW 17 33586198 missense probably benign 0.03
R1965:Myo1f UTSW 17 33598172 nonsense probably null
R2409:Myo1f UTSW 17 33576667 missense probably damaging 1.00
R2432:Myo1f UTSW 17 33575849 missense probably damaging 1.00
R4610:Myo1f UTSW 17 33582332 missense probably damaging 1.00
R4785:Myo1f UTSW 17 33598191 missense possibly damaging 0.95
R5239:Myo1f UTSW 17 33601735 missense probably benign 0.00
R5881:Myo1f UTSW 17 33576653 missense probably damaging 1.00
R5881:Myo1f UTSW 17 33580285 missense possibly damaging 0.46
R6160:Myo1f UTSW 17 33604344 missense probably benign
R6210:Myo1f UTSW 17 33601070 missense probably damaging 1.00
R6365:Myo1f UTSW 17 33586116 missense probably benign
R6464:Myo1f UTSW 17 33576647 missense probably damaging 1.00
R6532:Myo1f UTSW 17 33575846 missense probably damaging 1.00
R6678:Myo1f UTSW 17 33575845 missense probably damaging 1.00
R7241:Myo1f UTSW 17 33579928 missense probably damaging 0.99
R7266:Myo1f UTSW 17 33601694 missense probably benign
R7513:Myo1f UTSW 17 33575814 missense probably damaging 1.00
R7606:Myo1f UTSW 17 33576450 missense probably damaging 1.00
R7779:Myo1f UTSW 17 33578273 missense probably benign 0.27
R7853:Myo1f UTSW 17 33576698 missense probably damaging 1.00
R7884:Myo1f UTSW 17 33598296 missense probably damaging 1.00
R8507:Myo1f UTSW 17 33598018 missense probably benign 0.09
X0028:Myo1f UTSW 17 33576438 missense possibly damaging 0.67
X0065:Myo1f UTSW 17 33601983 missense probably benign
Posted On2015-12-18