Incidental Mutation 'R2443:Myo1e'
ID 249876
Institutional Source Beutler Lab
Gene Symbol Myo1e
Ensembl Gene ENSMUSG00000032220
Gene Name myosin IE
Synonyms 2310020N23Rik, 9130023P14Rik
MMRRC Submission 040401-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2443 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 70114632-70307048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70234454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 269 (S269L)
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: S269L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: S269L

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc13 C T 9: 102,511,222 (GRCm39) P37S probably damaging Het
Asxl3 T A 18: 22,544,596 (GRCm39) D39E probably benign Het
Cfap91 A G 16: 38,123,094 (GRCm39) Y645H probably damaging Het
Clec4d G A 6: 123,245,076 (GRCm39) V119M probably benign Het
Dennd11 T C 6: 40,383,710 (GRCm39) D444G probably damaging Het
Dlx2 A G 2: 71,376,349 (GRCm39) S130P probably benign Het
Dync2li1 C A 17: 84,955,093 (GRCm39) Q251K probably benign Het
Edem1 A T 6: 108,828,230 (GRCm39) K518N probably benign Het
Elapor1 A T 3: 108,388,665 (GRCm39) N239K probably damaging Het
Fbln2 T C 6: 91,236,693 (GRCm39) V736A probably damaging Het
Fga A G 3: 82,935,848 (GRCm39) K25R probably benign Het
Hmcn1 C A 1: 150,474,783 (GRCm39) R4701S probably benign Het
Ighv8-5 G A 12: 115,031,440 (GRCm39) P33L probably damaging Het
Kcnip3 T A 2: 127,301,983 (GRCm39) I194F probably damaging Het
Kif26b A C 1: 178,742,579 (GRCm39) I892L probably damaging Het
Krt78 C T 15: 101,855,033 (GRCm39) G926E probably damaging Het
Map1b T C 13: 99,566,919 (GRCm39) Y1934C unknown Het
Masp1 A T 16: 23,295,062 (GRCm39) Y400N probably damaging Het
Methig1 T C 15: 100,251,092 (GRCm39) M1T probably null Het
Mmp19 A G 10: 128,634,725 (GRCm39) E447G possibly damaging Het
Ms4a6d G A 19: 11,567,557 (GRCm39) H115Y possibly damaging Het
Myo7a G A 7: 97,744,976 (GRCm39) T288I probably benign Het
Npy5r T A 8: 67,133,942 (GRCm39) K284* probably null Het
Oas3 C A 5: 120,915,553 (GRCm39) R46L probably benign Het
Or5l14 A T 2: 87,793,209 (GRCm39) V9E possibly damaging Het
Pkd1l3 T A 8: 110,350,447 (GRCm39) S431T probably benign Het
Pnpla2 T C 7: 141,037,982 (GRCm39) V184A possibly damaging Het
Pomt2 C A 12: 87,180,154 (GRCm39) K282N probably damaging Het
Psmd12 T A 11: 107,386,563 (GRCm39) M378K probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Strn3 A T 12: 51,674,618 (GRCm39) Y389N probably damaging Het
Tdrd1 C T 19: 56,829,786 (GRCm39) A220V probably null Het
Tecpr2 T G 12: 110,862,759 (GRCm39) L57R probably damaging Het
Tkfc A G 19: 10,571,902 (GRCm39) L378P probably damaging Het
Tmprss2 T G 16: 97,369,703 (GRCm39) D357A possibly damaging Het
Tollip C T 7: 141,444,560 (GRCm39) W64* probably null Het
Vcan A G 13: 89,852,794 (GRCm39) F722S probably damaging Het
Vcp A T 4: 42,983,385 (GRCm39) N558K probably damaging Het
Vmn1r232 A G 17: 21,133,646 (GRCm39) I318T probably damaging Het
Vmn1r33 A T 6: 66,588,957 (GRCm39) I199K possibly damaging Het
Zfp61 A G 7: 23,991,194 (GRCm39) V319A probably benign Het
Zfyve28 A G 5: 34,374,238 (GRCm39) V592A possibly 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
IGL01402:Myo1e APN 9 70,245,048 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- TCAGAGTGAGTGACTACCCAGC -3'
(R):5'- GCACCTCACTAGCAATCTAGG -3'

Sequencing Primer
(F):5'- TGAGTGACTACCCAGCTCACTG -3'
(R):5'- CTAGCAATCTAGGCCAATCAAAGGG -3'
Posted On 2014-11-12