Incidental Mutation 'R1984:Myh14'
ID 220331
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 039996-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1984 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44288446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 514 (Y514C)
Ref Sequence ENSEMBL: ENSMUSP00000147115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]
AlphaFold Q6URW6
Predicted Effect probably damaging
Transcript: ENSMUST00000048102
AA Change: Y522C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: Y522C

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: Y514C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: Y514C

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: Y522C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: Y522C

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: Y514C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000208200
AA Change: Y200C
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,324,778 (GRCm39) L81H probably damaging Het
Abca8b A G 11: 109,868,667 (GRCm39) C166R probably damaging Het
Adgrv1 T A 13: 81,671,868 (GRCm39) E2242D probably damaging Het
Agap1 T C 1: 89,694,045 (GRCm39) S448P probably benign Het
Aldh1a2 T C 9: 71,160,334 (GRCm39) L120P probably damaging Het
Alkbh2 T C 5: 114,262,115 (GRCm39) N205S probably benign Het
Anapc1 C A 2: 128,511,608 (GRCm39) G493C possibly damaging Het
Aox3 A T 1: 58,192,220 (GRCm39) I497F possibly damaging Het
Atp2b1 T C 10: 98,850,354 (GRCm39) S826P possibly damaging Het
Atp8b4 T A 2: 126,164,928 (GRCm39) R1129S probably damaging Het
Bche T A 3: 73,609,159 (GRCm39) Q89L probably benign Het
Bche G T 3: 73,609,160 (GRCm39) Q89K probably benign Het
Bcl9 T C 3: 97,121,050 (GRCm39) K171E probably damaging Het
Cacna1b A T 2: 24,538,998 (GRCm39) Y1488N probably damaging Het
Dock8 A G 19: 25,098,545 (GRCm39) N623S probably null Het
Dok6 T C 18: 89,578,234 (GRCm39) E61G probably damaging Het
Duxf4 T A 10: 58,071,785 (GRCm39) Q143L possibly damaging Het
Esf1 A T 2: 139,990,806 (GRCm39) D559E possibly damaging Het
F11r A G 1: 171,289,438 (GRCm39) I254V probably benign Het
Fkrp A G 7: 16,545,802 (GRCm39) V20A probably benign Het
Fscb T C 12: 64,521,457 (GRCm39) E3G unknown Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hspa4l T C 3: 40,714,833 (GRCm39) V156A probably damaging Het
Igfn1 A G 1: 135,889,782 (GRCm39) S2422P probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Isg15 T C 4: 156,284,250 (GRCm39) I93V probably benign Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Marchf6 A T 15: 31,469,792 (GRCm39) L726Q probably damaging Het
Megf6 G T 4: 154,352,124 (GRCm39) G1210C probably damaging Het
Msh2 C T 17: 88,026,724 (GRCm39) T740I probably damaging Het
Myorg C A 4: 41,497,501 (GRCm39) A710S possibly damaging Het
Nedd1 T C 10: 92,550,022 (GRCm39) T88A possibly damaging Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Obox1 A T 7: 15,289,135 (GRCm39) I17L probably benign Het
Or11g24 A T 14: 50,662,848 (GRCm39) I291L possibly damaging Het
Palb2 A C 7: 121,726,303 (GRCm39) H522Q probably damaging Het
Pde4c C T 8: 71,177,191 (GRCm39) T6M probably damaging Het
Plekhg1 A G 10: 3,908,181 (GRCm39) K97E probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Qrich1 T C 9: 108,411,246 (GRCm39) V257A probably damaging Het
Rpl14 A G 9: 120,401,253 (GRCm39) D32G possibly damaging Het
Senp8 A G 9: 59,644,721 (GRCm39) V132A possibly damaging Het
Serac1 A G 17: 6,095,964 (GRCm39) probably null Het
Sh2d3c T A 2: 32,639,256 (GRCm39) C295* probably null Het
Stab1 A G 14: 30,872,605 (GRCm39) F1142L probably benign Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A G 15: 66,554,691 (GRCm39) E702G probably benign Het
Tgif2lx2 A T X: 117,337,690 (GRCm39) K218* probably null Het
Tpp1 C A 7: 105,400,905 (GRCm39) V41L probably benign Het
Tulp3 A T 6: 128,303,769 (GRCm39) S277T probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp683 T C 4: 133,784,766 (GRCm39) F338L 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
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'- TTTTGAGCGGTAGGGAGAAC -3'
(R):5'- GAGATCTTCCAGGTGTGCAC -3'

Sequencing Primer
(F):5'- AACTGAAAGGTGTGTGTCCG -3'
(R):5'- TGCACCGTGGTCTTGCG -3'
Posted On 2014-08-25