Incidental Mutation 'R1933:Myh14'
ID 215563
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 039951-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1933 (G1)
Quality Score 174
Status Not validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44264772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1671 (M1671I)
Ref Sequence ENSEMBL: ENSMUSP00000103532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]
AlphaFold Q6URW6
Predicted Effect probably benign
Transcript: ENSMUST00000048102
AA Change: M1671I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: M1671I

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 benign
Transcript: ENSMUST00000107899
AA Change: M1663I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: M1663I

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 benign
Transcript: ENSMUST00000107900
AA Change: M1671I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: M1671I

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 benign
Transcript: ENSMUST00000207775
AA Change: M1704I

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208044
Predicted Effect probably benign
Transcript: ENSMUST00000208200
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Btaf1 T A 19: 36,950,357 (GRCm39) I529K probably damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Slc25a13 C T 6: 6,109,262 (GRCm39) V367M probably damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Ube3c T C 5: 29,824,657 (GRCm39) Y561H probably damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Wnt5a C T 14: 28,233,802 (GRCm39) P10L probably benign Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R 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
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'- GCATTTTCCAAGGCCACTAG -3'
(R):5'- TGGGTGCCATGACCTCTAAC -3'

Sequencing Primer
(F):5'- GCATTTTCCAAGGCCACTAGCTAATC -3'
(R):5'- GGTGCCATGACCTCTAACCTCTC -3'
Posted On 2014-07-14