Incidental Mutation 'R7380:Myh14'
ID 572635
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 045462-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7380 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44310466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 139 (V139E)
Ref Sequence ENSEMBL: ENSMUSP00000103531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775] [ENSMUST00000208131]
AlphaFold Q6URW6
Predicted Effect probably damaging
Transcript: ENSMUST00000048102
AA Change: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: V139E

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: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: V139E

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: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: V139E

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: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208131
Meta Mutation Damage Score 0.9434 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,700,376 (GRCm39) T9A probably benign Het
Abcc5 A T 16: 20,215,784 (GRCm39) S414R possibly damaging Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Ankib1 G T 5: 3,772,576 (GRCm39) Q487K probably benign Het
BC034090 T G 1: 155,108,229 (GRCm39) S11R probably damaging Het
Car12 A G 9: 66,654,945 (GRCm39) N125S probably benign Het
Casq1 A G 1: 172,044,416 (GRCm39) V137A probably benign Het
Cfap54 C A 10: 92,883,840 (GRCm39) V305F probably damaging Het
Clstn3 T C 6: 124,433,948 (GRCm39) E404G probably benign Het
Copg1 T G 6: 87,870,824 (GRCm39) L209R probably damaging Het
Cpb2 A T 14: 75,493,449 (GRCm39) Q42L possibly damaging Het
Cpd G A 11: 76,693,151 (GRCm39) Q712* probably null Het
Csmd3 T A 15: 47,450,361 (GRCm39) Y2690F Het
Dchs1 G T 7: 105,407,835 (GRCm39) T1999K probably benign Het
Ddx10 T A 9: 53,151,786 (GRCm39) T80S probably damaging Het
Dmtn G A 14: 70,854,768 (GRCm39) T69I probably damaging Het
Dnah5 T A 15: 28,370,524 (GRCm39) H2821Q probably damaging Het
Fam162b T A 10: 51,466,572 (GRCm39) probably benign Het
Fam193b A C 13: 55,690,612 (GRCm39) S717A probably benign Het
Far2 T C 6: 148,082,493 (GRCm39) F500L unknown Het
Focad T A 4: 88,192,435 (GRCm39) V588D unknown Het
Gm12728 T C 4: 105,651,593 (GRCm39) F68L probably damaging Het
Gm1527 T A 3: 28,974,621 (GRCm39) M478K probably benign Het
Gm57858 T A 3: 36,080,070 (GRCm39) D229V possibly damaging Het
Gpd2 A T 2: 57,230,171 (GRCm39) I308F probably damaging Het
Igf2bp3 T C 6: 49,085,933 (GRCm39) T249A probably benign Het
Igfn1 C A 1: 135,889,746 (GRCm39) V2434F probably damaging Het
Inhca G A 9: 103,156,680 (GRCm39) Q127* probably null Het
Kdm5a C A 6: 120,382,879 (GRCm39) Q737K probably benign Het
Khdrbs2 T C 1: 32,372,685 (GRCm39) S120P unknown Het
Lmx1a T C 1: 167,519,609 (GRCm39) F46L probably damaging Het
Lrba C G 3: 86,232,381 (GRCm39) T776R probably damaging Het
Lrrc8c A G 5: 105,755,701 (GRCm39) N492S possibly damaging Het
Mapk3 A T 7: 126,363,967 (GRCm39) I365F Het
Mcee A G 7: 64,061,657 (GRCm39) I153M possibly damaging Het
Mllt3 T C 4: 87,710,180 (GRCm39) D415G possibly damaging Het
Muc4 A T 16: 32,575,740 (GRCm39) T1747S unknown Het
Myo10 A T 15: 25,779,706 (GRCm39) I772L probably benign Het
Naa15 T G 3: 51,367,268 (GRCm39) probably null Het
Nbeal1 T A 1: 60,283,969 (GRCm39) I841N probably damaging Het
Nf1 C T 11: 79,437,102 (GRCm39) T2006I probably damaging Het
Npr2 T A 4: 43,641,254 (GRCm39) W427R probably damaging Het
Nr1h3 A T 2: 91,020,540 (GRCm39) F324L possibly damaging Het
Obscn T C 11: 58,947,740 (GRCm39) K4430E Het
Or1e1d-ps1 T A 11: 73,819,013 (GRCm39) Y61N possibly damaging Het
Or5ac21 A G 16: 59,124,391 (GRCm39) R292G probably damaging Het
Or6c2 A T 10: 129,362,530 (GRCm39) T145S probably benign Het
Or6d13 T C 6: 116,517,894 (GRCm39) L160P probably benign Het
Osgin1 T A 8: 120,172,170 (GRCm39) H321Q probably benign Het
P4ha1 A G 10: 59,186,273 (GRCm39) I251V probably benign Het
Padi2 G A 4: 140,644,997 (GRCm39) W77* probably null Het
Pkd1 T A 17: 24,800,616 (GRCm39) I3086N probably damaging Het
Plk3 T C 4: 116,988,350 (GRCm39) N360S probably benign Het
Prr14 A T 7: 127,075,614 (GRCm39) S541C probably null Het
Ptch2 C A 4: 116,971,843 (GRCm39) Q1122K possibly damaging Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rad50 T C 11: 53,586,223 (GRCm39) I258V probably benign Het
Rapgef3 G T 15: 97,664,672 (GRCm39) R64S probably benign Het
Rbm44 A G 1: 91,079,938 (GRCm39) N42S possibly damaging Het
Ring1 T C 17: 34,240,694 (GRCm39) Y361C probably damaging Het
Robo3 T C 9: 37,329,852 (GRCm39) T1155A probably damaging Het
Rsf1 GGCGG GGCGGTGGCCGCGG 7: 97,229,122 (GRCm39) probably benign Het
Ryr3 T C 2: 112,470,502 (GRCm39) T4682A probably damaging Het
Scart1 A T 7: 139,804,790 (GRCm39) N598Y possibly damaging Het
Sema7a T C 9: 57,868,847 (GRCm39) V653A unknown Het
Slc16a13 T C 11: 70,110,105 (GRCm39) Y132C probably damaging Het
Slc24a1 A G 9: 64,855,815 (GRCm39) V364A unknown Het
Slc8a2 C T 7: 15,868,278 (GRCm39) A170V probably damaging Het
Slfn8 C T 11: 82,894,566 (GRCm39) R691Q not run Het
Snx2 T C 18: 53,327,640 (GRCm39) V122A probably benign Het
Sstr1 A T 12: 58,260,066 (GRCm39) M230L probably benign Het
Themis2 C T 4: 132,513,528 (GRCm39) V233I possibly damaging Het
Tmem106b T C 6: 13,078,167 (GRCm39) S121P probably damaging Het
Tmem63c A G 12: 87,124,722 (GRCm39) I529V probably benign Het
Tmem94 T C 11: 115,686,971 (GRCm39) probably null Het
Trmt10c A T 16: 55,854,619 (GRCm39) W339R probably damaging Het
Ugt2b1 A T 5: 87,065,578 (GRCm39) F487Y not run Het
Vmn2r91 T A 17: 18,356,838 (GRCm39) L835* probably null Het
Vps52 C A 17: 34,177,283 (GRCm39) N108K possibly damaging Het
Wdpcp T A 11: 21,661,585 (GRCm39) C286S possibly damaging Het
Zfp959 T A 17: 56,205,551 (GRCm39) H529Q 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
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
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'- TACCAAGTCATTACTCAAGCCTAGC -3'
(R):5'- ACCAAGAGAACAAAGTAGCTTTATG -3'

Sequencing Primer
(F):5'- ATTACTCAAGCCTAGCCCTGG -3'
(R):5'- AACAAAGTAGCTTTATGTTGTCTGGG -3'
Posted On 2019-09-13