Incidental Mutation 'R3852:Myo10'
ID 275990
Institutional Source Beutler Lab
Gene Symbol Myo10
Ensembl Gene ENSMUSG00000022272
Gene Name myosin X
Synonyms D15Ertd600e, myosin-X
MMRRC Submission 040784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3852 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 25622525-25813673 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25779626 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 28 (K28E)
Ref Sequence ENSEMBL: ENSMUSP00000022882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022882] [ENSMUST00000110457] [ENSMUST00000124966] [ENSMUST00000125667] [ENSMUST00000131834] [ENSMUST00000135173] [ENSMUST00000137601] [ENSMUST00000151360]
AlphaFold F8VQB6
Predicted Effect probably damaging
Transcript: ENSMUST00000022882
AA Change: K28E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022882
Gene: ENSMUSG00000022272
AA Change: K28E

DomainStartEndE-ValueType
IQ 1 17 7.83e1 SMART
IQ 18 40 1.06e0 SMART
IQ 41 63 7.07e-2 SMART
PDB:2LW9|B 136 171 7e-13 PDB
low complexity region 172 186 N/A INTRINSIC
low complexity region 213 235 N/A INTRINSIC
low complexity region 344 356 N/A INTRINSIC
low complexity region 401 419 N/A INTRINSIC
PH 471 570 1.39e-21 SMART
SCOP:d1faoa_ 588 639 3e-6 SMART
PH 651 757 6.76e-11 SMART
MyTH4 805 953 4.12e-37 SMART
B41 954 1216 1.72e-44 SMART
Blast:B41 1218 1303 3e-45 BLAST
low complexity region 1304 1316 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110457
AA Change: K774E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: K774E

DomainStartEndE-ValueType
MYSc 57 740 N/A SMART
IQ 741 763 1.27e-3 SMART
IQ 764 786 1.06e0 SMART
IQ 787 809 7.07e-2 SMART
Pfam:MYO10_CC 881 932 4.2e-22 PFAM
low complexity region 959 981 N/A INTRINSIC
low complexity region 1090 1102 N/A INTRINSIC
low complexity region 1147 1165 N/A INTRINSIC
PH 1217 1316 1.39e-21 SMART
PH 1397 1503 6.76e-11 SMART
MyTH4 1551 1699 4.12e-37 SMART
B41 1700 1962 1.72e-44 SMART
low complexity region 2050 2062 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124966
AA Change: K28E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120817
Gene: ENSMUSG00000022272
AA Change: K28E

DomainStartEndE-ValueType
IQ 1 17 7.83e1 SMART
IQ 18 40 1.06e0 SMART
IQ 41 63 7.07e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125667
AA Change: K132E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120566
Gene: ENSMUSG00000022272
AA Change: K132E

DomainStartEndE-ValueType
Pfam:Myosin_head 1 85 5.8e-22 PFAM
IQ 99 121 1.27e-3 SMART
IQ 122 144 1.06e0 SMART
IQ 145 167 7.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131834
Predicted Effect probably damaging
Transcript: ENSMUST00000135173
AA Change: K131E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118744
Gene: ENSMUSG00000022272
AA Change: K131E

DomainStartEndE-ValueType
Pfam:Myosin_head 1 84 1.4e-21 PFAM
IQ 98 120 1.27e-3 SMART
IQ 121 143 1.06e0 SMART
IQ 144 166 7.07e-2 SMART
low complexity region 168 179 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135981
AA Change: K91E
SMART Domains Protein: ENSMUSP00000123057
Gene: ENSMUSG00000022272
AA Change: K91E

DomainStartEndE-ValueType
PDB:2DFS|M 2 38 6e-7 PDB
Blast:MYSc 2 42 3e-19 BLAST
IQ 59 81 1.27e-3 SMART
IQ 82 104 1.06e0 SMART
IQ 105 127 7.07e-2 SMART
Pfam:MYO10_CC 199 242 1.7e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000137601
AA Change: K741E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
AA Change: K741E

DomainStartEndE-ValueType
MYSc 24 707 N/A SMART
IQ 708 730 1.27e-3 SMART
IQ 731 753 1.06e0 SMART
IQ 754 776 7.07e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145587
Predicted Effect probably benign
Transcript: ENSMUST00000151360
SMART Domains Protein: ENSMUSP00000119367
Gene: ENSMUSG00000022272

DomainStartEndE-ValueType
Pfam:Myosin_head 1 51 7.1e-16 PFAM
Meta Mutation Damage Score 0.4216 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
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 myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,560,439 (GRCm38) V685A probably damaging Het
Abhd4 T C 14: 54,265,367 (GRCm38) Y44H probably damaging Het
AI429214 A G 8: 36,994,442 (GRCm38) D248G probably damaging Het
AY358078 A G 14: 51,805,553 (GRCm38) T233A unknown Het
Calcr T C 6: 3,693,735 (GRCm38) Y353C probably damaging Het
Ccdc34 A G 2: 110,032,428 (GRCm38) K193E possibly damaging Het
Dhcr24 A G 4: 106,573,873 (GRCm38) E253G probably benign Het
Dnah6 A G 6: 73,127,927 (GRCm38) V1841A possibly damaging Het
Dpp10 A T 1: 123,485,924 (GRCm38) Y186* probably null Het
Dpysl4 C T 7: 139,100,935 (GRCm38) T575M probably damaging Het
Dusp7 T A 9: 106,373,893 (GRCm38) S406T probably benign Het
Gga3 T A 11: 115,587,542 (GRCm38) T475S probably benign Het
Gm10271 T A 10: 116,956,874 (GRCm38) K36* probably null Het
Gm572 G A 4: 148,668,872 (GRCm38) E325K possibly damaging Het
Golga2 A G 2: 32,305,611 (GRCm38) E806G probably benign Het
Igf1 A T 10: 87,915,319 (GRCm38) K126* probably null Het
Itpkc A T 7: 27,227,612 (GRCm38) N292K probably benign Het
Klhl1 A T 14: 96,280,205 (GRCm38) M345K probably benign Het
Lrp2 A G 2: 69,537,565 (GRCm38) V201A probably damaging Het
Lrrc8a C T 2: 30,261,960 (GRCm38) T757M probably benign Het
Mios T A 6: 8,216,453 (GRCm38) I459K probably benign Het
Mrps11 T C 7: 78,790,645 (GRCm38) I94T probably damaging Het
Ms4a4c T A 19: 11,416,395 (GRCm38) S68T probably benign Het
Mstn C T 1: 53,061,971 (GRCm38) T69I possibly damaging Het
Nol6 A G 4: 41,117,452 (GRCm38) S914P probably damaging Het
Ntn1 C G 11: 68,385,793 (GRCm38) D110H probably damaging Het
Olfr547 C A 7: 102,535,280 (GRCm38) H178N probably benign Het
Olfr585 T C 7: 103,098,184 (GRCm38) S148P probably damaging Het
Pcdh17 C T 14: 84,447,259 (GRCm38) Q389* probably null Het
Pik3r2 G A 8: 70,770,421 (GRCm38) R452C probably benign Het
Prr14l T C 5: 32,830,345 (GRCm38) E602G probably damaging Het
Rusc2 C A 4: 43,416,424 (GRCm38) Q577K probably benign Het
Sacm1l T A 9: 123,587,576 (GRCm38) M534K probably damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slco4a1 C T 2: 180,464,091 (GRCm38) T22M probably benign Het
Svs1 C T 6: 48,987,994 (GRCm38) P312L possibly damaging Het
Tas2r104 A T 6: 131,684,925 (GRCm38) C274S probably benign Het
Tnrc6c C T 11: 117,723,529 (GRCm38) R838W probably damaging Het
Trim43c T A 9: 88,840,401 (GRCm38) H33Q probably damaging Het
Ttc17 A T 2: 94,369,413 (GRCm38) I411K possibly damaging Het
Ttn A C 2: 76,955,024 (GRCm38) V669G possibly damaging Het
Ttn G T 2: 76,751,334 (GRCm38) L23072I possibly damaging Het
Vmn1r60 A T 7: 5,545,027 (GRCm38) F25I possibly damaging Het
Vmn2r9 A G 5: 108,848,131 (GRCm38) I217T probably damaging Het
Other mutations in Myo10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Myo10 APN 15 25,776,380 (GRCm38) missense probably damaging 1.00
IGL01068:Myo10 APN 15 25,739,309 (GRCm38) missense possibly damaging 0.93
IGL01352:Myo10 APN 15 25,701,697 (GRCm38) missense probably damaging 1.00
IGL01388:Myo10 APN 15 25,736,617 (GRCm38) missense possibly damaging 0.55
IGL01460:Myo10 APN 15 25,714,108 (GRCm38) missense probably benign 0.00
IGL01553:Myo10 APN 15 25,776,329 (GRCm38) missense probably damaging 1.00
IGL01732:Myo10 APN 15 25,732,063 (GRCm38) missense probably benign 0.10
IGL01992:Myo10 APN 15 25,799,548 (GRCm38) missense possibly damaging 0.92
IGL02000:Myo10 APN 15 25,808,066 (GRCm38) missense probably damaging 1.00
IGL02045:Myo10 APN 15 25,726,488 (GRCm38) missense probably benign 0.03
IGL02307:Myo10 APN 15 25,776,315 (GRCm38) splice site probably benign
IGL02511:Myo10 APN 15 25,723,889 (GRCm38) missense probably damaging 0.97
IGL03240:Myo10 APN 15 25,701,602 (GRCm38) missense probably damaging 1.00
least UTSW 15 25,726,475 (GRCm38) nonsense probably null
R0037:Myo10 UTSW 15 25,666,532 (GRCm38) intron probably benign
R0153:Myo10 UTSW 15 25,781,238 (GRCm38) missense possibly damaging 0.84
R0282:Myo10 UTSW 15 25,793,167 (GRCm38) missense probably damaging 1.00
R0360:Myo10 UTSW 15 25,804,368 (GRCm38) missense probably damaging 1.00
R0585:Myo10 UTSW 15 25,736,455 (GRCm38) missense probably damaging 1.00
R0617:Myo10 UTSW 15 25,738,005 (GRCm38) missense probably damaging 1.00
R0729:Myo10 UTSW 15 25,722,157 (GRCm38) splice site probably benign
R0771:Myo10 UTSW 15 25,778,178 (GRCm38) missense probably damaging 1.00
R0960:Myo10 UTSW 15 25,801,189 (GRCm38) missense probably damaging 1.00
R1562:Myo10 UTSW 15 25,780,411 (GRCm38) missense possibly damaging 0.81
R1651:Myo10 UTSW 15 25,742,369 (GRCm38) missense probably damaging 1.00
R1789:Myo10 UTSW 15 25,726,525 (GRCm38) critical splice donor site probably null
R1816:Myo10 UTSW 15 25,800,200 (GRCm38) missense probably damaging 1.00
R1835:Myo10 UTSW 15 25,805,587 (GRCm38) missense possibly damaging 0.53
R1908:Myo10 UTSW 15 25,801,222 (GRCm38) missense probably damaging 1.00
R2082:Myo10 UTSW 15 25,785,993 (GRCm38) missense probably damaging 1.00
R2101:Myo10 UTSW 15 25,722,259 (GRCm38) missense probably benign 0.26
R2129:Myo10 UTSW 15 25,781,799 (GRCm38) missense probably benign 0.09
R2141:Myo10 UTSW 15 25,714,108 (GRCm38) missense probably benign
R2142:Myo10 UTSW 15 25,714,108 (GRCm38) missense probably benign
R2920:Myo10 UTSW 15 25,801,140 (GRCm38) missense probably damaging 1.00
R2938:Myo10 UTSW 15 25,795,717 (GRCm38) missense probably damaging 0.99
R3723:Myo10 UTSW 15 25,803,288 (GRCm38) missense probably damaging 1.00
R4162:Myo10 UTSW 15 25,726,415 (GRCm38) splice site probably null
R4163:Myo10 UTSW 15 25,726,415 (GRCm38) splice site probably null
R4164:Myo10 UTSW 15 25,726,415 (GRCm38) splice site probably null
R4177:Myo10 UTSW 15 25,734,051 (GRCm38) missense possibly damaging 0.81
R4409:Myo10 UTSW 15 25,807,869 (GRCm38) missense probably damaging 1.00
R4667:Myo10 UTSW 15 25,793,153 (GRCm38) missense possibly damaging 0.91
R4905:Myo10 UTSW 15 25,800,212 (GRCm38) missense probably damaging 0.99
R4933:Myo10 UTSW 15 25,781,118 (GRCm38) missense probably damaging 0.96
R4968:Myo10 UTSW 15 25,808,184 (GRCm38) missense probably damaging 1.00
R5081:Myo10 UTSW 15 25,785,940 (GRCm38) missense probably damaging 1.00
R5123:Myo10 UTSW 15 25,726,483 (GRCm38) missense possibly damaging 0.94
R5310:Myo10 UTSW 15 25,778,078 (GRCm38) splice site probably null
R6073:Myo10 UTSW 15 25,736,642 (GRCm38) missense probably damaging 1.00
R6117:Myo10 UTSW 15 25,805,659 (GRCm38) missense probably benign 0.00
R6185:Myo10 UTSW 15 25,726,510 (GRCm38) missense probably damaging 0.99
R6749:Myo10 UTSW 15 25,714,110 (GRCm38) missense probably damaging 1.00
R6819:Myo10 UTSW 15 25,781,410 (GRCm38) missense possibly damaging 0.80
R6875:Myo10 UTSW 15 25,805,659 (GRCm38) missense probably benign 0.00
R6908:Myo10 UTSW 15 25,804,383 (GRCm38) missense probably damaging 1.00
R6963:Myo10 UTSW 15 25,734,063 (GRCm38) missense probably benign 0.31
R7144:Myo10 UTSW 15 25,723,925 (GRCm38) missense probably damaging 1.00
R7266:Myo10 UTSW 15 25,782,981 (GRCm38) missense probably damaging 1.00
R7380:Myo10 UTSW 15 25,779,620 (GRCm38) missense probably benign 0.01
R7460:Myo10 UTSW 15 25,807,827 (GRCm38) missense probably damaging 1.00
R7614:Myo10 UTSW 15 25,701,623 (GRCm38) missense probably benign 0.00
R7618:Myo10 UTSW 15 25,726,475 (GRCm38) nonsense probably null
R7717:Myo10 UTSW 15 25,731,970 (GRCm38) missense probably benign 0.01
R7811:Myo10 UTSW 15 25,804,524 (GRCm38) missense probably damaging 1.00
R7830:Myo10 UTSW 15 25,737,971 (GRCm38) nonsense probably null
R7862:Myo10 UTSW 15 25,666,436 (GRCm38) missense probably damaging 1.00
R8232:Myo10 UTSW 15 25,804,314 (GRCm38) missense possibly damaging 0.89
R8264:Myo10 UTSW 15 25,800,109 (GRCm38) missense probably damaging 0.99
R8377:Myo10 UTSW 15 25,804,395 (GRCm38) missense possibly damaging 0.94
R8385:Myo10 UTSW 15 25,804,398 (GRCm38) missense probably damaging 1.00
R8426:Myo10 UTSW 15 25,799,490 (GRCm38) missense probably damaging 0.99
R8439:Myo10 UTSW 15 25,725,072 (GRCm38) missense probably benign 0.00
R8696:Myo10 UTSW 15 25,799,486 (GRCm38) missense probably damaging 1.00
R8775:Myo10 UTSW 15 25,800,059 (GRCm38) missense probably damaging 0.97
R8775-TAIL:Myo10 UTSW 15 25,800,059 (GRCm38) missense probably damaging 0.97
R8970:Myo10 UTSW 15 25,803,381 (GRCm38) missense possibly damaging 0.82
R9024:Myo10 UTSW 15 25,793,209 (GRCm38) missense possibly damaging 0.53
R9196:Myo10 UTSW 15 25,805,630 (GRCm38) missense probably damaging 0.96
R9224:Myo10 UTSW 15 25,807,995 (GRCm38) missense probably benign 0.33
R9308:Myo10 UTSW 15 25,781,776 (GRCm38) missense probably damaging 0.99
R9358:Myo10 UTSW 15 25,781,434 (GRCm38) missense possibly damaging 0.69
R9606:Myo10 UTSW 15 25,776,315 (GRCm38) frame shift probably null
R9722:Myo10 UTSW 15 25,801,141 (GRCm38) missense probably damaging 1.00
RF013:Myo10 UTSW 15 25,799,479 (GRCm38) missense probably damaging 0.99
Z1177:Myo10 UTSW 15 25,799,554 (GRCm38) critical splice donor site probably null
Z1177:Myo10 UTSW 15 25,781,401 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCATAATAAGAGACCGGGTCCAAG -3'
(R):5'- TTCTGTTTCAGCCGGCAGAG -3'

Sequencing Primer
(F):5'- AGACCGGGTCCAAGTCTGG -3'
(R):5'- GGCAGAGCACATACCTTTCCTC -3'
Posted On 2015-04-06