Incidental Mutation 'R6187:Myh14'
ID 502232
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 044327-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6187 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44276457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1216 (T1216I)
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: T1183I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: T1183I

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: T1175I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: T1175I

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: T1183I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: T1183I

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: T1216I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208085
Predicted Effect unknown
Transcript: ENSMUST00000208200
AA Change: T861I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209024
Meta Mutation Damage Score 0.3579 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
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
Abca13 T A 11: 9,259,085 (GRCm39) L2937H probably damaging Het
Abca3 A G 17: 24,627,141 (GRCm39) I1281V possibly damaging Het
Adam2 A T 14: 66,306,068 (GRCm39) S138T possibly damaging Het
Adamts4 C T 1: 171,078,562 (GRCm39) P61S probably damaging Het
Adamts6 C T 13: 104,433,933 (GRCm39) P121S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ak1 G A 2: 32,523,489 (GRCm39) V186M probably damaging Het
Alpk1 T C 3: 127,466,991 (GRCm39) Y1096C probably damaging Het
Ankrd29 A C 18: 12,412,747 (GRCm39) Y73* probably null Het
Asah2 A T 19: 32,002,267 (GRCm39) S292R probably damaging Het
Atp6v1b1 A T 6: 83,729,377 (GRCm39) T105S probably damaging Het
Axdnd1 T A 1: 156,193,182 (GRCm39) probably null Het
Bub1b T G 2: 118,461,481 (GRCm39) S678A probably damaging Het
Cdcp3 G A 7: 130,872,328 (GRCm39) probably benign Het
Cenpq T A 17: 41,238,089 (GRCm39) M142L probably benign Het
Ciz1 T A 2: 32,260,063 (GRCm39) V203E possibly damaging Het
Cmklr2 T C 1: 63,222,434 (GRCm39) E267G probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Cyp2c68 A T 19: 39,729,452 (GRCm39) S12T probably benign Het
Cyp4f18 C A 8: 72,747,030 (GRCm39) A322S probably damaging Het
Disp2 A G 2: 118,622,624 (GRCm39) S1119G probably damaging Het
Eif2ak4 C T 2: 118,287,638 (GRCm39) T1081M probably damaging Het
Faxc A G 4: 21,958,445 (GRCm39) T201A possibly damaging Het
Fbxw14 A G 9: 109,105,332 (GRCm39) S278P probably damaging Het
Fpr1 G T 17: 18,097,190 (GRCm39) C266* probably null Het
Fsip2 T C 2: 82,812,798 (GRCm39) I3039T probably benign Het
Gas1 G T 13: 60,324,186 (GRCm39) S190R possibly damaging Het
Gemin2 A G 12: 59,060,371 (GRCm39) T37A probably damaging Het
Gm21370 T C 13: 120,488,403 (GRCm39) I49V probably benign Het
Gm8444 T C 15: 81,727,807 (GRCm39) probably benign Het
Gria1 A G 11: 57,128,936 (GRCm39) D401G possibly damaging Het
Gstk1 G A 6: 42,226,794 (GRCm39) V187I possibly damaging Het
Hmcn1 T C 1: 150,506,479 (GRCm39) D3776G probably damaging Het
Itfg1 A C 8: 86,563,094 (GRCm39) V102G probably damaging Het
Kidins220 A G 12: 25,101,307 (GRCm39) probably null Het
Kif13b A C 14: 64,973,664 (GRCm39) D338A probably damaging Het
Mab21l2 T C 3: 86,454,565 (GRCm39) Y145C probably damaging Het
Magel2 A G 7: 62,027,389 (GRCm39) M98V unknown Het
Mdfic T C 6: 15,721,196 (GRCm39) probably benign Het
Minar1 A G 9: 89,473,220 (GRCm39) I897T probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mycbp2 A G 14: 103,384,453 (GRCm39) L3475P probably damaging Het
Nfatc2 T A 2: 168,322,158 (GRCm39) I914F probably benign Het
Nup58 T C 14: 60,478,256 (GRCm39) probably null Het
Or10ag53 T A 2: 87,083,042 (GRCm39) S254T probably damaging Het
Or10al4 T C 17: 38,037,032 (GRCm39) L48P probably damaging Het
Or13a22 A G 7: 140,072,529 (GRCm39) probably benign Het
Or2y13 G T 11: 49,414,338 (GRCm39) probably benign Het
Or4l15 A G 14: 50,198,526 (GRCm39) M1T probably null Het
Or5p50 A T 7: 107,421,781 (GRCm39) N298K probably benign Het
Or7g20 A C 9: 18,946,689 (GRCm39) Q90P probably benign Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Oxr1 A G 15: 41,689,315 (GRCm39) Q513R probably damaging Het
Padi1 C T 4: 140,554,276 (GRCm39) V310M probably damaging Het
Pard3 T C 8: 127,800,023 (GRCm39) L11S probably benign Het
Pcdhb14 A T 18: 37,581,497 (GRCm39) D201V probably damaging Het
Pcdhb7 A G 18: 37,475,622 (GRCm39) R253G probably benign Het
Plxnb2 C T 15: 89,051,461 (GRCm39) D253N probably damaging Het
Ppp2cb T C 8: 34,105,502 (GRCm39) S171P probably damaging Het
Prr5 C T 15: 84,577,973 (GRCm39) T94M probably damaging Het
Rp1 A G 1: 4,420,092 (GRCm39) F340S probably damaging Het
Rpa1 C G 11: 75,201,062 (GRCm39) G433A probably benign Het
Smg1 A T 7: 117,788,386 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Homo
Svep1 C T 4: 58,072,872 (GRCm39) G2146R probably damaging Het
Tas2r106 A G 6: 131,655,173 (GRCm39) M226T probably damaging Het
Tbk1 T C 10: 121,420,148 (GRCm39) I14V probably benign Het
Tekt4 G C 17: 25,691,197 (GRCm39) V168L probably damaging Het
Tnfaip1 T A 11: 78,418,372 (GRCm39) T232S probably damaging Het
Trio C T 15: 27,744,038 (GRCm39) probably null Het
Ttn T A 2: 76,774,781 (GRCm39) Y2133F unknown Het
Uap1l1 C T 2: 25,252,741 (GRCm39) R433H probably damaging Het
Ugt2b35 T C 5: 87,155,181 (GRCm39) F339L probably damaging Het
Unc5b T C 10: 60,608,003 (GRCm39) Y699C probably damaging Het
Vcpip1 T C 1: 9,795,005 (GRCm39) H1122R probably damaging Het
Vmn2r91 T C 17: 18,326,888 (GRCm39) V391A probably benign Het
Vps13c C T 9: 67,822,939 (GRCm39) R1327W probably damaging Het
Yes1 A G 5: 32,802,385 (GRCm39) Y100C probably damaging Het
Zfp407 A T 18: 84,577,134 (GRCm39) N1326K possibly damaging Het
Zfp518a G A 19: 40,903,890 (GRCm39) C1273Y probably benign Het
Zfr AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA AGCAGCAGCA 15: 12,146,317 (GRCm39) probably benign 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
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'- TCCATTCACACCTTCAGAGC -3'
(R):5'- GTGCCAACCAATTCCCTTG -3'

Sequencing Primer
(F):5'- ATTCACACCTTCAGAGCTGGTG -3'
(R):5'- GGTCCTTGTCACACCCACAG -3'
Posted On 2018-02-27