Incidental Mutation 'R5577:Myo1e'
ID 437261
Institutional Source Beutler Lab
Gene Symbol Myo1e
Ensembl Gene ENSMUSG00000032220
Gene Name myosin IE
Synonyms 2310020N23Rik, 9130023P14Rik
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 70114632-70307048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70277753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 817 (E817K)
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: E817K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: E817K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q 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
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
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
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'- CACAGTTGTCTCTCTGACCGTG -3'
(R):5'- ACAGTGTCTTGCATATCCCGG -3'

Sequencing Primer
(F):5'- GTCTGGCTGCCTTCTGAAAGTC -3'
(R):5'- TCACCTCTCAAGTGTTGGGACAG -3'
Posted On 2016-10-26