Incidental Mutation 'R0599:Myo1e'
ID 55230
Institutional Source Beutler Lab
Gene Symbol Myo1e
Ensembl Gene ENSMUSG00000032220
Gene Name myosin IE
Synonyms 2310020N23Rik, 9130023P14Rik
MMRRC Submission 038788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0599 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 70114632-70307048 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 70283942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034745] [ENSMUST00000214042]
AlphaFold E9Q634
Predicted Effect probably benign
Transcript: ENSMUST00000034745
SMART Domains Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,529,208 (GRCm39) L978P probably damaging Het
Abcb1a C T 5: 8,748,539 (GRCm39) T290M probably benign Het
Abcd3 A T 3: 121,558,742 (GRCm39) F585I probably damaging Het
Abtb3 G A 10: 85,494,200 (GRCm39) G1106D probably damaging Het
Acan A G 7: 78,761,038 (GRCm39) probably benign Het
Anxa6 T C 11: 54,870,292 (GRCm39) D667G possibly damaging Het
Ap3m2 G T 8: 23,283,128 (GRCm39) A208D possibly damaging Het
Arhgap17 A T 7: 122,903,013 (GRCm39) probably benign Het
Bptf A G 11: 106,959,208 (GRCm39) V1838A probably damaging Het
Brip1 T A 11: 86,043,563 (GRCm39) M334L probably benign Het
Btbd10 C T 7: 112,934,516 (GRCm39) probably benign Het
Cdh20 C A 1: 109,980,696 (GRCm39) T208K probably damaging Het
Cnga4 A G 7: 105,055,025 (GRCm39) Y100C probably damaging Het
Dnah10 G A 5: 124,878,017 (GRCm39) V2644M probably damaging Het
Dnah9 T C 11: 65,856,515 (GRCm39) D2882G probably damaging Het
Eapp T A 12: 54,732,747 (GRCm39) K117M probably damaging Het
Eml3 T C 19: 8,916,427 (GRCm39) V673A probably benign Het
Ephb4 G A 5: 137,368,117 (GRCm39) C754Y probably damaging Het
Eps8l1 A G 7: 4,480,956 (GRCm39) D33G possibly damaging Het
Farsa A G 8: 85,594,212 (GRCm39) K321E probably damaging Het
Fry G A 5: 150,360,624 (GRCm39) R2090Q probably damaging Het
Gm10283 A G 8: 60,954,258 (GRCm39) probably benign Het
Grm4 A G 17: 27,650,464 (GRCm39) I844T probably benign Het
Gtf2h3 A G 5: 124,726,691 (GRCm39) D124G probably benign Het
Gulo A T 14: 66,227,890 (GRCm39) D347E probably damaging Het
Hmcn1 A G 1: 150,485,552 (GRCm39) F4350S possibly damaging Het
Hspg2 A G 4: 137,239,712 (GRCm39) D473G probably damaging Het
Il17ra T A 6: 120,458,466 (GRCm39) I539N probably damaging Het
Insrr A G 3: 87,720,440 (GRCm39) E1026G probably damaging Het
Itga2 A T 13: 114,993,186 (GRCm39) probably benign Het
Kdm1b A T 13: 47,212,286 (GRCm39) D190V possibly damaging Het
Lima1 A T 15: 99,700,040 (GRCm39) N146K probably damaging Het
Mnt G T 11: 74,733,122 (GRCm39) V85L probably benign Het
Mon2 T A 10: 122,861,970 (GRCm39) probably benign Het
Mtf1 T C 4: 124,713,994 (GRCm39) probably benign Het
Mylk4 T C 13: 32,896,737 (GRCm39) probably null Het
Myo18b A C 5: 113,013,616 (GRCm39) L780R probably damaging Het
Obscn A G 11: 58,964,522 (GRCm39) S705P probably damaging Het
Ocrl A T X: 47,024,963 (GRCm39) probably benign Het
Or1e34 A T 11: 73,778,730 (GRCm39) M156K probably benign Het
Or4c35 T C 2: 89,808,545 (GRCm39) F141S probably benign Het
Or51k1 A T 7: 103,661,395 (GRCm39) C171* probably null Het
Or52ab4 A G 7: 102,987,393 (GRCm39) N44S probably damaging Het
Otof T A 5: 30,528,049 (GRCm39) K1931N probably damaging Het
Plcxd3 A G 15: 4,546,349 (GRCm39) S118G probably damaging Het
Plcz1 T A 6: 139,974,268 (GRCm39) Q58L probably benign Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Rassf4 T C 6: 116,622,897 (GRCm39) E38G probably damaging Het
Ros1 A T 10: 51,999,396 (GRCm39) Y1164N probably damaging Het
Rpgrip1l A G 8: 92,031,628 (GRCm39) I83T probably damaging Het
Scn9a T G 2: 66,357,143 (GRCm39) K1053Q probably damaging Het
Sgsm1 G T 5: 113,392,894 (GRCm39) Q1087K probably damaging Het
Slc16a10 T C 10: 40,017,914 (GRCm39) D40G probably benign Het
Slc27a6 A G 18: 58,689,885 (GRCm39) D117G probably damaging Het
Slc2a9 T A 5: 38,637,487 (GRCm39) probably benign Het
Slc4a1 A G 11: 102,248,741 (GRCm39) probably benign Het
Smarca1 T A X: 46,912,303 (GRCm39) Q982L probably benign Het
Sp100 T A 1: 85,608,831 (GRCm39) I320N possibly damaging Het
Stx8 A T 11: 68,000,188 (GRCm39) R209S probably null Het
Sulf2 T C 2: 165,925,799 (GRCm39) T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tenm2 T A 11: 35,915,607 (GRCm39) I1976F possibly damaging Het
Tenm3 G A 8: 48,730,745 (GRCm39) S1341L probably damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tmem200c A G 17: 69,147,506 (GRCm39) K30E probably damaging Het
Tmem225 A G 9: 40,061,043 (GRCm39) I117V possibly damaging Het
Tmt1a3 A T 15: 100,233,264 (GRCm39) N152Y possibly damaging Het
Top2a A G 11: 98,892,243 (GRCm39) I1073T probably damaging Het
Trps1 A C 15: 50,695,256 (GRCm39) Y296* probably null Het
Tubg1 T C 11: 101,016,162 (GRCm39) M377T probably benign Het
Tut7 A G 13: 59,957,301 (GRCm39) V7A probably damaging Het
Vmn1r35 G A 6: 66,656,497 (GRCm39) H58Y probably benign Het
Vmn1r56 G A 7: 5,199,429 (GRCm39) H63Y probably benign Het
Vmn1r75 T C 7: 11,615,189 (GRCm39) probably null Het
Vnn3 T C 10: 23,741,603 (GRCm39) S303P possibly damaging Het
Wdr49 C T 3: 75,338,383 (GRCm39) probably null Het
Wdr49 T C 3: 75,357,197 (GRCm39) probably null Het
Zzef1 T C 11: 72,804,004 (GRCm39) L2582P 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
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
Predicted Primers PCR Primer
(F):5'- AGCGGTGTTCAGAACAGGTTCG -3'
(R):5'- TCAACAATGCGTAGAGTCTTGCCC -3'

Sequencing Primer
(F):5'- TTCCTGCCTCCAAATAAGAGTG -3'
(R):5'- CGTAGAGTCTTGCCCATTAGAAC -3'
Posted On 2013-07-11