Incidental Mutation 'R1579:Myh14'
ID 171287
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 039616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1579 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 44305118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000107900] [ENSMUST00000207775] [ENSMUST00000207775]
AlphaFold Q6URW6
Predicted Effect probably null
Transcript: ENSMUST00000048102
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739

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
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739

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
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739

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: ENSMUST00000107900
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739

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: ENSMUST00000182648
SMART Domains Protein: ENSMUSP00000138739
Gene: ENSMUSG00000030739

DomainStartEndE-ValueType
low complexity region 62 80 N/A INTRINSIC
MYSc 95 838 N/A SMART
IQ 839 861 3.91e-4 SMART
Blast:MYSc 872 905 1e-12 BLAST
low complexity region 913 924 N/A INTRINSIC
low complexity region 959 970 N/A INTRINSIC
low complexity region 1038 1046 N/A INTRINSIC
low complexity region 1054 1062 N/A INTRINSIC
low complexity region 1063 1074 N/A INTRINSIC
Pfam:Myosin_tail_1 1127 1984 9.1e-180 PFAM
low complexity region 1988 1999 N/A INTRINSIC
low complexity region 2001 2030 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000207775
Predicted Effect probably null
Transcript: ENSMUST00000207775
Predicted Effect probably benign
Transcript: ENSMUST00000208200
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,724,039 (GRCm39) R162G probably benign Het
Adamtsl4 T A 3: 95,592,807 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,711,898 (GRCm39) L306H probably damaging Het
Aknad1 T A 3: 108,659,452 (GRCm39) Y155* probably null Het
Aldh6a1 C T 12: 84,488,622 (GRCm39) R88H possibly damaging Het
Apc2 G C 10: 80,147,179 (GRCm39) K715N probably damaging Het
Arhgap45 G A 10: 79,864,811 (GRCm39) V798M probably damaging Het
Calcrl T C 2: 84,163,881 (GRCm39) T437A probably benign Het
Cdan1 A G 2: 120,561,220 (GRCm39) F183L probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntnap4 A G 8: 113,608,462 (GRCm39) E1294G possibly damaging Het
Crybg3 C A 16: 59,350,561 (GRCm39) G2607V probably damaging Het
Dhx29 G T 13: 113,072,132 (GRCm39) probably null Het
Dmrtb1 T A 4: 107,541,322 (GRCm39) H13L probably damaging Het
Echdc2 A G 4: 108,031,006 (GRCm39) M162V probably benign Het
Entpd8 A G 2: 24,974,986 (GRCm39) D439G possibly damaging Het
Fastkd2 C G 1: 63,785,046 (GRCm39) H477Q probably null Het
Fbrs A G 7: 127,084,529 (GRCm39) E517G probably damaging Het
Gchfr A G 2: 119,002,502 (GRCm39) T71A possibly damaging Het
Hecw1 A T 13: 14,552,492 (GRCm39) C35S probably damaging Het
Izumo1r C T 9: 14,813,098 (GRCm39) R58H probably benign Het
Kif13a T C 13: 46,906,332 (GRCm39) E537G possibly damaging Het
Kif13b G A 14: 65,019,790 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lnpk A T 2: 74,378,340 (GRCm39) D140E probably damaging Het
Ltbp1 A G 17: 75,559,362 (GRCm39) M284V probably benign Het
Me3 A T 7: 89,495,050 (GRCm39) T323S possibly damaging Het
Mtus1 A G 8: 41,535,895 (GRCm39) V607A probably damaging Het
Myo1h T A 5: 114,485,496 (GRCm39) C545* probably null Het
Nbn T A 4: 15,964,289 (GRCm39) D121E probably damaging Het
Nox4 A G 7: 87,019,231 (GRCm39) Y408C probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or10q1b A G 19: 13,682,566 (GRCm39) D125G probably damaging Het
Or52d3 T A 7: 104,229,268 (GRCm39) Y138* probably null Het
Or5w20 G A 2: 87,727,286 (GRCm39) A248T probably benign Het
Osbpl5 T C 7: 143,262,939 (GRCm39) T150A possibly damaging Het
Pgap3 C A 11: 98,280,879 (GRCm39) M265I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd2l2 A T 18: 34,560,446 (GRCm39) N351I possibly damaging Het
Prkdc T A 16: 15,493,192 (GRCm39) Y700N probably benign Het
Pzp A G 6: 128,500,931 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptor A T 11: 119,786,827 (GRCm39) Q1264L probably benign Het
Scnn1a T C 6: 125,299,103 (GRCm39) F61S probably damaging Het
Tenm2 C A 11: 35,997,610 (GRCm39) W825C probably damaging Het
Tex264 A T 9: 106,559,116 (GRCm39) I70N possibly damaging Het
Tns2 G T 15: 102,019,645 (GRCm39) D504Y probably damaging Het
Trappc14 T C 5: 138,260,128 (GRCm39) I338V probably benign Het
Trpc2 T A 7: 101,733,447 (GRCm39) F132Y probably damaging Het
Trpm4 A G 7: 44,958,021 (GRCm39) F816S probably damaging Het
Uqcc1 G A 2: 155,763,641 (GRCm39) Q5* probably null Het
Usp36 G T 11: 118,175,771 (GRCm39) T130N probably damaging Het
Vav1 A G 17: 57,604,252 (GRCm39) M165V probably benign Het
Vmn1r64 A T 7: 5,886,803 (GRCm39) F247I probably damaging Het
Vmn2r26 G C 6: 124,016,706 (GRCm39) R390P probably benign Het
Vmn2r57 G T 7: 41,049,548 (GRCm39) H734N probably benign Het
Wfdc16 G T 2: 164,477,843 (GRCm39) H69N possibly damaging Het
Zfp316 C T 5: 143,239,317 (GRCm39) E901K probably damaging Het
Zfp334 T C 2: 165,223,719 (GRCm39) E108G probably damaging Het
Zfp407 T C 18: 84,227,763 (GRCm39) S1949G probably benign Het
Zfp408 A G 2: 91,476,473 (GRCm39) L227P probably benign Het
Zfp560 T C 9: 20,259,287 (GRCm39) H525R possibly damaging Het
Zfp609 G A 9: 65,611,754 (GRCm39) A403V possibly 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
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
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'- TCCAGACAACTTTGCTGAGACACC -3'
(R):5'- ATGGGAACACGACTGGTTCTGC -3'

Sequencing Primer
(F):5'- TTGCTGAGACACCAGCAGTTAG -3'
(R):5'- ACGACTGGTTCTGCAACATTTTTC -3'
Posted On 2014-04-13