Incidental Mutation 'R8088:Myh14'
ID 629788
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 067521-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8088 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 44314920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000103531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775] [ENSMUST00000208131]
AlphaFold Q6URW6
Predicted Effect probably null
Transcript: ENSMUST00000048102
AA Change: M1K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: M1K

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 null
Transcript: ENSMUST00000107899
AA Change: M1K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: M1K

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 null
Transcript: ENSMUST00000107900
AA Change: M1K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: M1K

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 null
Transcript: ENSMUST00000207775
AA Change: M1K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably null
Transcript: ENSMUST00000208131
AA Change: M1K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 100% (69/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2c1 A T 9: 105,329,768 (GRCm39) probably null Het
Ccdc134 T A 15: 82,015,990 (GRCm39) probably benign Het
Ccdc162 G T 10: 41,499,410 (GRCm39) H1066Q possibly damaging Het
Ccna1 A G 3: 54,958,492 (GRCm39) S64P probably benign Het
Cplane1 A G 15: 8,215,802 (GRCm39) M453V probably benign Het
Defb12 T C 8: 19,162,837 (GRCm39) probably null Het
Dhx9 C A 1: 153,338,443 (GRCm39) V738L probably benign Het
Dnah10 A G 5: 124,831,330 (GRCm39) N843S probably benign Het
Dspp A G 5: 104,325,122 (GRCm39) D495G unknown Het
Dus2 A G 8: 106,757,073 (GRCm39) M88V probably benign Het
Dusp13b A G 14: 21,791,305 (GRCm39) V49A probably benign Het
Efcab3 A T 11: 104,889,072 (GRCm39) I4163L probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Entpd3 A C 9: 120,383,239 (GRCm39) R91S probably benign Het
Fam83c C A 2: 155,673,559 (GRCm39) V210F probably damaging Het
Flot1 G A 17: 36,140,870 (GRCm39) A287T probably damaging Het
Gm19410 A G 8: 36,273,995 (GRCm39) K1412E probably benign Het
Gsn G A 2: 35,182,659 (GRCm39) V241M possibly damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Heatr5a T C 12: 51,994,779 (GRCm39) D451G possibly damaging Het
Hmcn2 G A 2: 31,316,915 (GRCm39) W3831* probably null Het
Il3 A G 11: 54,156,375 (GRCm39) V119A probably benign Het
Jam3 T C 9: 27,010,156 (GRCm39) K276R probably benign Het
Kcnt1 G A 2: 25,784,326 (GRCm39) G277D possibly damaging Het
Kif28 T A 1: 179,527,919 (GRCm39) D744V probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Loxhd1 T C 18: 77,429,709 (GRCm39) I535T possibly damaging Het
Lzts1 A C 8: 69,588,474 (GRCm39) L494R probably benign Het
Mettl4 A G 17: 95,042,795 (GRCm39) V347A probably damaging Het
Mff A G 1: 82,729,370 (GRCm39) E270G probably damaging Het
Mroh2b A T 15: 4,929,985 (GRCm39) I24F possibly damaging Het
Muc16 A T 9: 18,430,596 (GRCm39) Y8102* probably null Het
Myo18b T A 5: 113,027,376 (GRCm39) probably benign Het
Neurl1a C A 19: 47,245,873 (GRCm39) P502T probably damaging Het
Nrp1 G A 8: 129,194,997 (GRCm39) W484* probably null Het
Or2y3 T A 17: 38,393,452 (GRCm39) H139L possibly damaging Het
Or4f47 T A 2: 111,972,602 (GRCm39) I104N probably benign Het
Pcdhac1 T C 18: 37,224,807 (GRCm39) V540A possibly damaging Het
Pcdhga9 A G 18: 37,870,007 (GRCm39) probably benign Het
Pm20d1 A C 1: 131,729,501 (GRCm39) N176T probably benign Het
Pnldc1 T C 17: 13,116,189 (GRCm39) D271G probably damaging Het
Pold3 A G 7: 99,761,508 (GRCm39) V63A probably damaging Het
Rbm18 A C 2: 36,017,196 (GRCm39) S61A probably benign Het
Rdh14 T C 12: 10,444,551 (GRCm39) L134P probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rtel1 A G 2: 180,964,138 (GRCm39) T46A probably damaging Het
Rtn3 T C 19: 7,412,363 (GRCm39) I823V probably damaging Het
S1pr1 A G 3: 115,505,683 (GRCm39) S304P probably damaging Het
Scfd2 A G 5: 74,692,024 (GRCm39) V86A probably benign Het
Scgb1a1 C T 19: 9,062,599 (GRCm39) V66M probably damaging Het
Sec31a A T 5: 100,526,721 (GRCm39) M46K Het
Sgsm1 A G 5: 113,403,134 (GRCm39) M971T probably damaging Het
Slc5a11 T C 7: 122,864,951 (GRCm39) I419T probably benign Het
Slco6d1 A T 1: 98,394,431 (GRCm39) T372S possibly damaging Het
Slx9 T C 10: 77,350,229 (GRCm39) N53S probably benign Het
Spata31 T A 13: 65,068,679 (GRCm39) Y276N probably benign Het
Sprr2k C T 3: 92,340,796 (GRCm39) R49W unknown Het
Sspo G A 6: 48,434,547 (GRCm39) C1013Y probably damaging Het
Ssr2 A G 3: 88,487,190 (GRCm39) R2G possibly damaging Het
St18 C A 1: 6,898,229 (GRCm39) T677K probably benign Het
Thap11 A T 8: 106,582,527 (GRCm39) I179F probably damaging Het
Trf C A 9: 103,089,130 (GRCm39) G586C probably damaging Het
Umodl1 A G 17: 31,192,770 (GRCm39) N299S probably benign Het
Xrcc5 C A 1: 72,351,595 (GRCm39) A55E probably damaging 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
R8164:Myh14 UTSW 7 44,274,457 (GRCm39) missense probably benign 0.01
R8260:Myh14 UTSW 7 44,264,800 (GRCm39) missense probably damaging 1.00
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'- TTCATGCGCTGGATCTGGTC -3'
(R):5'- TCTCTGAGATCAAGGACAGCC -3'

Sequencing Primer
(F):5'- TCGAACCCATGCAGTTCCGAG -3'
(R):5'- CTGAGATCAAGGACAGCCTGGTC -3'
Posted On 2020-06-30