Incidental Mutation 'IGL01402:Myo1e'
ID 278367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo1e
Ensembl Gene ENSMUSG00000032220
Gene Name myosin IE
Synonyms 2310020N23Rik, 9130023P14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01402
Quality Score
Status
Chromosome 9
Chromosomal Location 70114632-70307048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70245048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 382 (Y382C)
Ref Sequence ENSEMBL: ENSMUSP00000034745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034745] [ENSMUST00000214042]
AlphaFold E9Q634
PDB Structure MYOSIN 1E SH3 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034745
AA Change: Y382C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: Y382C

DomainStartEndE-ValueType
MYSc 13 693 N/A SMART
Pfam:Myosin_TH1 719 917 1e-55 PFAM
SH3 1053 1107 2.12e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214767
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,638,653 (GRCm39) S351P possibly damaging Het
Abca2 T C 2: 25,332,015 (GRCm39) S1376P probably damaging Het
Ablim3 A G 18: 62,004,754 (GRCm39) Y12H probably damaging Het
Akr1b7 A G 6: 34,398,052 (GRCm39) R294G possibly damaging Het
Aldh3b1 A C 19: 3,971,205 (GRCm39) V153G probably benign Het
Alk A T 17: 72,181,173 (GRCm39) H1372Q probably damaging Het
Ano9 A C 7: 140,681,955 (GRCm39) Y731* probably null Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Asl T C 5: 130,048,645 (GRCm39) E43G probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cfap43 T C 19: 47,784,105 (GRCm39) D476G probably benign Het
Cpa1 A G 6: 30,645,275 (GRCm39) H417R possibly damaging Het
Cpeb3 T C 19: 37,065,948 (GRCm39) D407G probably benign Het
Dcaf15 A T 8: 84,825,026 (GRCm39) C469S probably damaging Het
Dpy19l4 C A 4: 11,273,006 (GRCm39) probably null Het
E4f1 A T 17: 24,663,208 (GRCm39) L699Q probably damaging Het
Eif4g2 A G 7: 110,676,234 (GRCm39) F349S possibly damaging Het
Ermap T C 4: 119,044,355 (GRCm39) Y147C probably damaging Het
Frk A C 10: 34,423,381 (GRCm39) E153A probably damaging Het
Fubp3 G A 2: 31,494,733 (GRCm39) probably null Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Gjc3 A G 5: 137,956,120 (GRCm39) F55S probably damaging Het
Gm10762 C T 2: 128,809,005 (GRCm39) probably benign Het
Got1 A G 19: 43,493,048 (GRCm39) I291T possibly damaging Het
Gpr179 C A 11: 97,229,012 (GRCm39) G1048* probably null Het
Hectd3 G T 4: 116,853,262 (GRCm39) R163L probably damaging Het
Hectd4 T C 5: 121,477,480 (GRCm39) probably benign Het
Ifnb1 T C 4: 88,440,480 (GRCm39) R178G probably benign Het
Ino80 T A 2: 119,287,199 (GRCm39) D56V possibly damaging Het
Kctd1 T A 18: 15,102,610 (GRCm39) Q857L probably damaging Het
Kdm5a T A 6: 120,367,640 (GRCm39) L445* probably null Het
Lins1 G A 7: 66,363,676 (GRCm39) V524I probably damaging Het
Lrp1 A T 10: 127,430,901 (GRCm39) Y383N probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mgam A C 6: 40,621,879 (GRCm39) K84Q probably benign Het
Mlh3 A T 12: 85,314,703 (GRCm39) F494L probably benign Het
Mpped1 T C 15: 83,676,414 (GRCm39) F60S possibly damaging Het
Ncor1 C A 11: 62,231,300 (GRCm39) V836F probably damaging Het
Nktr G A 9: 121,570,218 (GRCm39) probably null Het
Or10al4 A G 17: 38,037,193 (GRCm39) T93A probably benign Het
Or4d5 A G 9: 40,012,558 (GRCm39) I76T probably benign Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Rnf144a T A 12: 26,377,300 (GRCm39) Y93F probably benign Het
Rubcn G A 16: 32,647,666 (GRCm39) T636M probably damaging Het
Scn5a A C 9: 119,315,536 (GRCm39) L1724R probably damaging Het
Sel1l A G 12: 91,808,607 (GRCm39) S45P possibly damaging Het
Serpina3k A G 12: 104,306,882 (GRCm39) D38G probably benign Het
Sh3bgr A C 16: 96,007,690 (GRCm39) K18N probably damaging Het
Slc28a2 T G 2: 122,282,538 (GRCm39) I287M probably damaging Het
St8sia6 T C 2: 13,670,318 (GRCm39) N214S probably damaging Het
Syt11 A G 3: 88,669,523 (GRCm39) I123T probably benign Het
Tcerg1l A T 7: 137,861,568 (GRCm39) I387N probably damaging Het
Tfg C A 16: 56,514,856 (GRCm39) probably benign Het
Tgm4 A G 9: 122,880,519 (GRCm39) K307E possibly damaging Het
Tmem177 T C 1: 119,837,791 (GRCm39) D296G probably damaging Het
Tmem270 C T 5: 134,930,763 (GRCm39) probably benign Het
Tnrc6b G T 15: 80,764,745 (GRCm39) G749V possibly damaging Het
Trp63 C A 16: 25,639,135 (GRCm39) probably benign Het
Ugt1a8 T C 1: 88,015,617 (GRCm39) L10P probably benign Het
Vmn2r107 A T 17: 20,596,009 (GRCm39) K854M probably damaging Het
Vmn2r45 T C 7: 8,484,467 (GRCm39) N446S probably damaging Het
Vps13c A T 9: 67,820,486 (GRCm39) probably null Het
Wdr91 G A 6: 34,865,998 (GRCm39) P518L probably benign Het
Yap1 G A 9: 7,934,742 (GRCm39) probably benign Het
Zfp282 A C 6: 47,874,770 (GRCm39) D325A probably damaging Het
Other mutations in Myo1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Myo1e APN 9 70,249,430 (GRCm39) missense probably benign 0.01
IGL00833:Myo1e APN 9 70,246,060 (GRCm39) missense probably damaging 0.99
IGL00973:Myo1e APN 9 70,246,069 (GRCm39) missense probably damaging 1.00
IGL01011:Myo1e APN 9 70,223,871 (GRCm39) splice site probably benign
IGL01401:Myo1e APN 9 70,234,448 (GRCm39) missense probably damaging 0.97
IGL01404:Myo1e APN 9 70,245,048 (GRCm39) missense probably benign 0.02
IGL01613:Myo1e APN 9 70,248,555 (GRCm39) splice site probably benign
IGL01738:Myo1e APN 9 70,266,652 (GRCm39) missense probably damaging 1.00
IGL01819:Myo1e APN 9 70,250,322 (GRCm39) splice site probably benign
IGL02233:Myo1e APN 9 70,291,081 (GRCm39) splice site probably benign
IGL02244:Myo1e APN 9 70,274,971 (GRCm39) missense probably benign 0.00
IGL02440:Myo1e APN 9 70,254,022 (GRCm39) missense probably damaging 1.00
IGL02806:Myo1e APN 9 70,269,552 (GRCm39) missense probably benign 0.01
IGL02886:Myo1e APN 9 70,276,055 (GRCm39) missense probably benign 0.00
IGL03178:Myo1e APN 9 70,194,231 (GRCm39) missense possibly damaging 0.47
I2288:Myo1e UTSW 9 70,249,379 (GRCm39) missense possibly damaging 0.80
R0036:Myo1e UTSW 9 70,248,590 (GRCm39) missense probably damaging 1.00
R0238:Myo1e UTSW 9 70,249,408 (GRCm39) missense possibly damaging 0.86
R0238:Myo1e UTSW 9 70,249,408 (GRCm39) missense possibly damaging 0.86
R0399:Myo1e UTSW 9 70,209,075 (GRCm39) splice site probably benign
R0526:Myo1e UTSW 9 70,229,680 (GRCm39) missense probably damaging 1.00
R0599:Myo1e UTSW 9 70,283,942 (GRCm39) splice site probably benign
R0656:Myo1e UTSW 9 70,274,956 (GRCm39) missense probably damaging 1.00
R1078:Myo1e UTSW 9 70,291,281 (GRCm39) missense probably benign
R1278:Myo1e UTSW 9 70,306,067 (GRCm39) missense probably damaging 1.00
R1300:Myo1e UTSW 9 70,209,065 (GRCm39) missense probably damaging 1.00
R1329:Myo1e UTSW 9 70,246,020 (GRCm39) missense possibly damaging 0.96
R1349:Myo1e UTSW 9 70,194,351 (GRCm39) splice site probably benign
R1463:Myo1e UTSW 9 70,246,038 (GRCm39) missense possibly damaging 0.88
R1656:Myo1e UTSW 9 70,303,216 (GRCm39) missense probably damaging 1.00
R1727:Myo1e UTSW 9 70,283,806 (GRCm39) missense possibly damaging 0.88
R1789:Myo1e UTSW 9 70,246,066 (GRCm39) missense probably damaging 1.00
R1970:Myo1e UTSW 9 70,276,055 (GRCm39) missense probably benign 0.00
R2029:Myo1e UTSW 9 70,285,997 (GRCm39) splice site probably benign
R2029:Myo1e UTSW 9 70,275,969 (GRCm39) missense possibly damaging 0.78
R2039:Myo1e UTSW 9 70,227,415 (GRCm39) missense possibly damaging 0.89
R2076:Myo1e UTSW 9 70,291,159 (GRCm39) missense probably benign
R2256:Myo1e UTSW 9 70,285,655 (GRCm39) splice site probably null
R2257:Myo1e UTSW 9 70,285,655 (GRCm39) splice site probably null
R2323:Myo1e UTSW 9 70,286,040 (GRCm39) nonsense probably null
R2443:Myo1e UTSW 9 70,234,454 (GRCm39) missense probably benign
R4023:Myo1e UTSW 9 70,232,157 (GRCm39) missense probably benign
R4024:Myo1e UTSW 9 70,232,157 (GRCm39) missense probably benign
R4025:Myo1e UTSW 9 70,232,157 (GRCm39) missense probably benign
R4026:Myo1e UTSW 9 70,232,157 (GRCm39) missense probably benign
R4151:Myo1e UTSW 9 70,204,633 (GRCm39) nonsense probably null
R4764:Myo1e UTSW 9 70,250,417 (GRCm39) splice site probably null
R4768:Myo1e UTSW 9 70,277,751 (GRCm39) missense possibly damaging 0.63
R4911:Myo1e UTSW 9 70,250,378 (GRCm39) missense probably benign
R4995:Myo1e UTSW 9 70,260,554 (GRCm39) missense probably benign 0.01
R4999:Myo1e UTSW 9 70,260,594 (GRCm39) missense probably damaging 1.00
R5228:Myo1e UTSW 9 70,229,640 (GRCm39) splice site probably null
R5414:Myo1e UTSW 9 70,229,640 (GRCm39) splice site probably null
R5577:Myo1e UTSW 9 70,277,753 (GRCm39) missense probably benign 0.31
R5851:Myo1e UTSW 9 70,291,086 (GRCm39) missense probably benign 0.17
R6208:Myo1e UTSW 9 70,283,887 (GRCm39) missense probably damaging 0.99
R6907:Myo1e UTSW 9 70,234,437 (GRCm39) missense probably benign
R7084:Myo1e UTSW 9 70,245,083 (GRCm39) missense probably damaging 0.96
R7313:Myo1e UTSW 9 70,266,667 (GRCm39) critical splice donor site probably null
R7383:Myo1e UTSW 9 70,204,577 (GRCm39) missense probably damaging 1.00
R7811:Myo1e UTSW 9 70,234,544 (GRCm39) missense probably damaging 0.96
R7962:Myo1e UTSW 9 70,242,501 (GRCm39) missense possibly damaging 0.64
R8309:Myo1e UTSW 9 70,254,045 (GRCm39) missense possibly damaging 0.90
R8510:Myo1e UTSW 9 70,242,547 (GRCm39) missense probably damaging 1.00
R8513:Myo1e UTSW 9 70,227,370 (GRCm39) missense probably damaging 1.00
R8694:Myo1e UTSW 9 70,291,172 (GRCm39) missense probably benign
R8720:Myo1e UTSW 9 70,204,570 (GRCm39) missense possibly damaging 0.89
R9112:Myo1e UTSW 9 70,274,983 (GRCm39) missense probably benign 0.25
R9148:Myo1e UTSW 9 70,283,830 (GRCm39) missense probably damaging 0.98
R9156:Myo1e UTSW 9 70,266,605 (GRCm39) missense probably damaging 1.00
R9251:Myo1e UTSW 9 70,276,076 (GRCm39) missense probably benign 0.00
R9541:Myo1e UTSW 9 70,204,628 (GRCm39) missense probably damaging 1.00
R9624:Myo1e UTSW 9 70,303,156 (GRCm39) missense probably damaging 1.00
R9660:Myo1e UTSW 9 70,223,924 (GRCm39) missense probably damaging 1.00
R9728:Myo1e UTSW 9 70,223,924 (GRCm39) missense probably damaging 1.00
X0021:Myo1e UTSW 9 70,285,555 (GRCm39) missense probably damaging 0.99
X0065:Myo1e UTSW 9 70,285,576 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16