Incidental Mutation 'R8260:Myh14'
ID 639996
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 067685-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8260 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44264800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1654 (E1654G)
Ref Sequence ENSEMBL: ENSMUSP00000103531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]
AlphaFold Q6URW6
Predicted Effect probably damaging
Transcript: ENSMUST00000048102
AA Change: E1662G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: E1662G

DomainStartEndE-ValueType
low complexity region 62 80 N/A INTRINSIC
MYSc 95 805 N/A SMART
IQ 806 828 3.91e-4 SMART
Blast:MYSc 839 872 1e-12 BLAST
low complexity region 880 891 N/A INTRINSIC
low complexity region 926 937 N/A INTRINSIC
low complexity region 1005 1013 N/A INTRINSIC
low complexity region 1021 1029 N/A INTRINSIC
low complexity region 1030 1041 N/A INTRINSIC
Pfam:Myosin_tail_1 1094 1951 9.3e-180 PFAM
low complexity region 1955 1966 N/A INTRINSIC
low complexity region 1968 1997 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107899
AA Change: E1654G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: E1654G

DomainStartEndE-ValueType
low complexity region 62 80 N/A INTRINSIC
MYSc 95 797 N/A SMART
IQ 798 820 3.91e-4 SMART
Blast:MYSc 831 864 1e-12 BLAST
low complexity region 872 883 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 997 1005 N/A INTRINSIC
low complexity region 1013 1021 N/A INTRINSIC
low complexity region 1022 1033 N/A INTRINSIC
Pfam:Myosin_tail_1 1086 1943 9e-180 PFAM
low complexity region 1947 1958 N/A INTRINSIC
low complexity region 1960 1989 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107900
AA Change: E1662G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: E1662G

DomainStartEndE-ValueType
low complexity region 62 80 N/A INTRINSIC
MYSc 95 805 N/A SMART
IQ 806 828 3.91e-4 SMART
Pfam:Myosin_tail_1 869 1949 N/A PFAM
low complexity region 1955 1966 N/A INTRINSIC
low complexity region 1968 1997 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000207775
AA Change: E1695G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000208200
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik G C 14: 64,223,633 (GRCm39) L48V probably benign Het
Acbd3 T C 1: 180,566,095 (GRCm39) Y263H probably damaging Het
Acot4 C A 12: 84,088,809 (GRCm39) P219Q possibly damaging Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Ahcyl T C 16: 45,974,786 (GRCm39) E197G probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Arid1b A G 17: 5,382,788 (GRCm39) T1292A probably benign Het
Atp2c1 T A 9: 105,295,778 (GRCm39) I649F probably damaging Het
Bbs10 C T 10: 111,136,104 (GRCm39) Q406* probably null Het
Bcas3 T A 11: 85,400,372 (GRCm39) M447K possibly damaging Het
Bmal1 A T 7: 112,884,258 (GRCm39) I92F probably damaging Het
Cars1 T C 7: 143,139,446 (GRCm39) D214G probably benign Het
Ccdc88a A T 11: 29,443,934 (GRCm39) I1410F probably benign Het
Cd55b A T 1: 130,316,415 (GRCm39) L378H probably damaging Het
Cdh1 G A 8: 107,330,979 (GRCm39) E37K probably benign Het
Cep72 T C 13: 74,206,465 (GRCm39) Y119C probably damaging Het
Ctnnd2 A G 15: 30,634,879 (GRCm39) T176A possibly damaging Het
D630045J12Rik T A 6: 38,119,846 (GRCm39) probably null Het
Ddi1 A T 9: 6,265,524 (GRCm39) C282S probably damaging Het
Ddit4 T C 10: 59,787,277 (GRCm39) T20A probably benign Het
Dpp10 T A 1: 123,614,024 (GRCm39) T102S probably benign Het
Ep400 T A 5: 110,903,478 (GRCm39) K374* probably null Het
Epha3 A G 16: 63,403,917 (GRCm39) L728P probably damaging Het
Fbxw21 C A 9: 108,975,614 (GRCm39) probably null Het
Frmpd1 A G 4: 45,244,638 (GRCm39) E109G probably damaging Het
Ggt1 C T 10: 75,417,245 (GRCm39) P332L probably damaging Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Gm5431 A T 11: 48,785,556 (GRCm39) I273K probably benign Het
Gon4l A G 3: 88,799,937 (GRCm39) N861D probably damaging Het
Grm5 T C 7: 87,724,340 (GRCm39) probably null Het
Helt T C 8: 46,745,745 (GRCm39) N84S possibly damaging Het
Hnrnpa0 G T 13: 58,275,228 (GRCm39) Y300* probably null Het
Ints1 T C 5: 139,750,968 (GRCm39) T810A Het
Irf2bp1 C T 7: 18,740,079 (GRCm39) A573V possibly damaging Het
Itgbl1 C A 14: 124,065,246 (GRCm39) D133E probably benign Het
Kctd15 A G 7: 34,344,267 (GRCm39) F128S possibly damaging Het
Klra17 T A 6: 129,808,421 (GRCm39) N271Y probably damaging Het
Kmt2c T A 5: 25,610,514 (GRCm39) E197D possibly damaging Het
Larp1 C A 11: 57,949,515 (GRCm39) T1048K probably benign Het
Macf1 A G 4: 123,365,863 (GRCm39) V2966A probably benign Het
Magi3 A G 3: 103,922,625 (GRCm39) L1364P probably benign Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Med13l C T 5: 118,886,794 (GRCm39) T1565I possibly damaging Het
Mov10l1 A G 15: 88,896,313 (GRCm39) D719G probably benign Het
Mtcl3 T A 10: 29,024,270 (GRCm39) H395Q possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Myo1c C T 11: 75,546,942 (GRCm39) probably benign Het
Myo9a A G 9: 59,817,961 (GRCm39) T2343A probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2ag18 A T 7: 106,405,234 (GRCm39) V145E possibly damaging Het
Or2d2b A T 7: 106,706,062 (GRCm39) M2K probably benign Het
Or4m1 T C 14: 50,557,615 (GRCm39) K226E probably benign Het
Or52m2 T A 7: 102,263,432 (GRCm39) I255F possibly damaging Het
Or52n5 T A 7: 104,587,879 (GRCm39) Y49N probably damaging Het
Or6c2 T A 10: 129,362,957 (GRCm39) I287N possibly damaging Het
Or8k53 T A 2: 86,177,276 (GRCm39) Y278F possibly damaging Het
Or9g3 A T 2: 85,589,820 (GRCm39) L300Q probably damaging Het
Osmr A T 15: 6,844,897 (GRCm39) D957E probably benign Het
Pappa T A 4: 65,234,419 (GRCm39) V1408E probably damaging Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Pdcd6ip A T 9: 113,501,865 (GRCm39) D464E probably benign Het
Pde1c T C 6: 56,114,404 (GRCm39) Y503C probably benign Het
Potefam3d A T 8: 69,972,400 (GRCm39) D116E possibly damaging Het
Prob1 T A 18: 35,787,210 (GRCm39) E348V possibly damaging Het
Rnls A G 19: 33,180,048 (GRCm39) L134S probably damaging Het
Scrn3 T C 2: 73,166,202 (GRCm39) Y412H probably damaging Het
Serpina3g T C 12: 104,205,362 (GRCm39) S34P probably benign Het
Sertad3 G A 7: 27,175,784 (GRCm39) A73T probably benign Het
Sez6l C T 5: 112,609,122 (GRCm39) A576T probably benign Het
Sh3tc2 G A 18: 62,146,137 (GRCm39) R1172H probably damaging Het
Sirt3 A G 7: 140,456,319 (GRCm39) V110A Het
Smpd3 A T 8: 106,984,047 (GRCm39) D557E probably benign Het
Sptssb A T 3: 69,728,305 (GRCm39) M44K probably damaging Het
Tars2 A G 3: 95,662,132 (GRCm39) W7R probably damaging Het
Tbc1d9b A G 11: 50,055,013 (GRCm39) D964G probably benign Het
Tiam2 A T 17: 3,568,594 (GRCm39) D1580V possibly damaging Het
Tmeff2 T A 1: 50,977,478 (GRCm39) V130D probably damaging Het
Top2a T A 11: 98,891,595 (GRCm39) E1176V probably null Het
Trappc9 C A 15: 72,813,758 (GRCm39) E680* probably null Het
Trip10 A G 17: 57,564,314 (GRCm39) N355S probably benign Het
Ttn T C 2: 76,596,337 (GRCm39) E20192G probably damaging Het
Vmn2r96 A G 17: 18,804,243 (GRCm39) M306V probably benign Het
Wdr90 A T 17: 26,064,141 (GRCm39) H1860Q probably damaging Het
Wrnip1 A G 13: 32,989,339 (GRCm39) I276V possibly damaging Het
Zfp608 T C 18: 55,030,821 (GRCm39) K1040E possibly damaging Het
Zfp808 T A 13: 62,320,552 (GRCm39) C594S probably benign Het
Other mutations in Myh14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Myh14 APN 7 44,255,716 (GRCm39) unclassified probably benign
IGL01431:Myh14 APN 7 44,263,782 (GRCm39) missense probably null 0.00
IGL01722:Myh14 APN 7 44,292,956 (GRCm39) missense probably damaging 1.00
IGL01806:Myh14 APN 7 44,307,363 (GRCm39) missense probably benign 0.19
IGL02034:Myh14 APN 7 44,265,717 (GRCm39) missense possibly damaging 0.58
IGL02260:Myh14 APN 7 44,260,995 (GRCm39) missense probably damaging 1.00
IGL02590:Myh14 APN 7 44,273,503 (GRCm39) missense probably damaging 1.00
IGL02696:Myh14 APN 7 44,314,530 (GRCm39) missense probably damaging 1.00
IGL02705:Myh14 APN 7 44,257,960 (GRCm39) missense possibly damaging 0.66
IGL03193:Myh14 APN 7 44,279,369 (GRCm39) missense possibly damaging 0.91
PIT4581001:Myh14 UTSW 7 44,262,906 (GRCm39) missense probably benign 0.04
R0067:Myh14 UTSW 7 44,272,551 (GRCm39) missense probably benign 0.05
R0083:Myh14 UTSW 7 44,283,943 (GRCm39) missense probably damaging 0.98
R0108:Myh14 UTSW 7 44,283,943 (GRCm39) missense probably damaging 0.98
R0152:Myh14 UTSW 7 44,272,605 (GRCm39) missense probably damaging 1.00
R0369:Myh14 UTSW 7 44,310,374 (GRCm39) missense probably damaging 1.00
R0552:Myh14 UTSW 7 44,263,105 (GRCm39) missense probably damaging 1.00
R0699:Myh14 UTSW 7 44,274,395 (GRCm39) missense possibly damaging 0.67
R0763:Myh14 UTSW 7 44,314,791 (GRCm39) missense probably damaging 0.98
R1079:Myh14 UTSW 7 44,279,426 (GRCm39) missense probably damaging 1.00
R1388:Myh14 UTSW 7 44,314,546 (GRCm39) missense probably damaging 0.98
R1432:Myh14 UTSW 7 44,265,723 (GRCm39) missense probably damaging 1.00
R1568:Myh14 UTSW 7 44,261,122 (GRCm39) nonsense probably null
R1579:Myh14 UTSW 7 44,305,118 (GRCm39) splice site probably null
R1598:Myh14 UTSW 7 44,287,818 (GRCm39) missense probably damaging 0.96
R1848:Myh14 UTSW 7 44,281,853 (GRCm39) missense probably damaging 0.98
R1869:Myh14 UTSW 7 44,261,067 (GRCm39) missense possibly damaging 0.95
R1917:Myh14 UTSW 7 44,307,349 (GRCm39) missense probably benign
R1933:Myh14 UTSW 7 44,264,772 (GRCm39) missense probably benign 0.09
R1984:Myh14 UTSW 7 44,288,446 (GRCm39) missense probably damaging 1.00
R2154:Myh14 UTSW 7 44,301,853 (GRCm39) critical splice donor site probably null
R2190:Myh14 UTSW 7 44,310,487 (GRCm39) missense probably damaging 1.00
R2217:Myh14 UTSW 7 44,283,800 (GRCm39) missense probably damaging 1.00
R2239:Myh14 UTSW 7 44,314,607 (GRCm39) missense probably damaging 1.00
R2918:Myh14 UTSW 7 44,265,687 (GRCm39) missense possibly damaging 0.91
R4091:Myh14 UTSW 7 44,282,415 (GRCm39) missense possibly damaging 0.93
R4110:Myh14 UTSW 7 44,277,974 (GRCm39) missense probably benign 0.00
R4199:Myh14 UTSW 7 44,264,927 (GRCm39) nonsense probably null
R4507:Myh14 UTSW 7 44,279,415 (GRCm39) missense probably benign 0.00
R4539:Myh14 UTSW 7 44,276,478 (GRCm39) missense probably damaging 1.00
R4550:Myh14 UTSW 7 44,283,857 (GRCm39) missense probably damaging 1.00
R4673:Myh14 UTSW 7 44,273,754 (GRCm39) missense probably damaging 1.00
R4768:Myh14 UTSW 7 44,263,099 (GRCm39) missense probably benign 0.19
R4832:Myh14 UTSW 7 44,274,566 (GRCm39) missense probably benign 0.31
R4853:Myh14 UTSW 7 44,257,872 (GRCm39) missense probably damaging 1.00
R4901:Myh14 UTSW 7 44,310,464 (GRCm39) missense probably damaging 1.00
R4928:Myh14 UTSW 7 44,284,926 (GRCm39) missense probably benign 0.00
R5070:Myh14 UTSW 7 44,265,672 (GRCm39) missense possibly damaging 0.91
R5166:Myh14 UTSW 7 44,278,279 (GRCm39) missense probably damaging 0.99
R5726:Myh14 UTSW 7 44,292,886 (GRCm39) critical splice donor site probably null
R5786:Myh14 UTSW 7 44,262,887 (GRCm39) missense probably benign 0.23
R5895:Myh14 UTSW 7 44,256,133 (GRCm39) missense probably damaging 1.00
R5961:Myh14 UTSW 7 44,272,518 (GRCm39) missense probably damaging 0.96
R6014:Myh14 UTSW 7 44,274,502 (GRCm39) missense probably null
R6080:Myh14 UTSW 7 44,305,035 (GRCm39) missense probably damaging 1.00
R6187:Myh14 UTSW 7 44,276,457 (GRCm39) missense probably damaging 1.00
R6657:Myh14 UTSW 7 44,287,270 (GRCm39) missense probably damaging 1.00
R6833:Myh14 UTSW 7 44,273,803 (GRCm39) nonsense probably null
R6894:Myh14 UTSW 7 44,282,936 (GRCm39) missense probably damaging 1.00
R6916:Myh14 UTSW 7 44,278,737 (GRCm39) missense probably damaging 0.96
R6962:Myh14 UTSW 7 44,307,363 (GRCm39) missense probably benign 0.36
R7066:Myh14 UTSW 7 44,280,179 (GRCm39) missense possibly damaging 0.69
R7261:Myh14 UTSW 7 44,273,761 (GRCm39) nonsense probably null
R7303:Myh14 UTSW 7 44,261,125 (GRCm39) missense probably damaging 1.00
R7304:Myh14 UTSW 7 44,279,415 (GRCm39) missense probably benign 0.00
R7327:Myh14 UTSW 7 44,260,977 (GRCm39) missense possibly damaging 0.53
R7380:Myh14 UTSW 7 44,310,466 (GRCm39) missense probably damaging 1.00
R7570:Myh14 UTSW 7 44,281,850 (GRCm39) missense probably benign 0.37
R7622:Myh14 UTSW 7 44,281,846 (GRCm39) missense probably benign 0.25
R7681:Myh14 UTSW 7 44,273,572 (GRCm39) missense possibly damaging 0.81
R7718:Myh14 UTSW 7 44,310,464 (GRCm39) missense probably damaging 1.00
R7910:Myh14 UTSW 7 44,281,819 (GRCm39) missense probably damaging 1.00
R8054:Myh14 UTSW 7 44,274,551 (GRCm39) missense probably damaging 0.97
R8088:Myh14 UTSW 7 44,314,920 (GRCm39) start codon destroyed probably null 0.94
R8164:Myh14 UTSW 7 44,274,457 (GRCm39) missense probably benign 0.01
R8299:Myh14 UTSW 7 44,276,472 (GRCm39) missense probably damaging 1.00
R8410:Myh14 UTSW 7 44,282,907 (GRCm39) missense probably damaging 1.00
R8723:Myh14 UTSW 7 44,272,407 (GRCm39) missense probably damaging 1.00
R8853:Myh14 UTSW 7 44,265,678 (GRCm39) missense probably benign 0.08
R8934:Myh14 UTSW 7 44,306,852 (GRCm39) missense probably benign
R9169:Myh14 UTSW 7 44,271,281 (GRCm39) missense possibly damaging 0.73
R9395:Myh14 UTSW 7 44,274,584 (GRCm39) missense possibly damaging 0.66
R9451:Myh14 UTSW 7 44,273,743 (GRCm39) critical splice donor site probably null
X0026:Myh14 UTSW 7 44,263,818 (GRCm39) missense probably benign 0.00
X0063:Myh14 UTSW 7 44,273,557 (GRCm39) missense probably damaging 1.00
Z1176:Myh14 UTSW 7 44,287,733 (GRCm39) missense probably damaging 0.98
Z1176:Myh14 UTSW 7 44,257,939 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCAAGGCCACTAGCTAATCC -3'
(R):5'- GAAATCTGGGTGCCATGACC -3'

Sequencing Primer
(F):5'- GTGATGAGACCAGACCTCCGATC -3'
(R):5'- AATCTGGGTGCCATGACCTCTAAC -3'
Posted On 2020-07-28