Incidental Mutation 'R8054:Myh14'
ID 619256
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms 2400004E04Rik, NMHC II-C
MMRRC Submission 067491-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8054 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44255227-44320267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44274551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1246 (V1246M)
Ref Sequence ENSEMBL: ENSMUSP00000103531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]
AlphaFold Q6URW6
Predicted Effect probably damaging
Transcript: ENSMUST00000048102
AA Change: V1254M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: V1254M

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: V1246M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: V1246M

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: V1254M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: V1254M

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: V1287M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,874,272 (GRCm39) N399S probably benign Het
Akap9 T C 5: 4,088,707 (GRCm39) probably null Het
Ankrd17 A G 5: 90,438,914 (GRCm39) I483T probably benign Het
Arl13b T C 16: 62,626,960 (GRCm39) D247G probably benign Het
Brca2 A G 5: 150,459,969 (GRCm39) I415V probably benign Het
Brpf3 C A 17: 29,055,571 (GRCm39) S1173R probably damaging Het
Cby2 A G 14: 75,821,339 (GRCm39) Y129H probably benign Het
Ccar1 A G 10: 62,583,215 (GRCm39) L966P unknown Het
Cfap61 A G 2: 145,815,438 (GRCm39) N249S probably damaging Het
Clip4 T A 17: 72,141,268 (GRCm39) Y541N possibly damaging Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Cyp2c23 T G 19: 43,995,555 (GRCm39) E404A probably damaging Het
Cyp2e1 A G 7: 140,350,871 (GRCm39) E281G possibly damaging Het
Cyp2r1 T A 7: 114,151,319 (GRCm39) probably null Het
D430041D05Rik T A 2: 103,985,390 (GRCm39) I1226F possibly damaging Het
Dbx1 A T 7: 49,282,498 (GRCm39) W236R probably damaging Het
Dcp2 T G 18: 44,538,774 (GRCm39) N251K probably benign Het
Disp1 A T 1: 182,869,812 (GRCm39) Y869* probably null Het
Dnajc8 T A 4: 132,272,068 (GRCm39) probably benign Het
Efcab3 A G 11: 104,621,226 (GRCm39) N822D probably benign Het
Ehhadh A G 16: 21,592,243 (GRCm39) probably null Het
Eml3 A T 19: 8,916,414 (GRCm39) T670S possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 A T 2: 125,187,938 (GRCm39) D1530E possibly damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hsd3b3 A T 3: 98,649,331 (GRCm39) Y331N probably damaging Het
Ino80d T C 1: 63,097,837 (GRCm39) R791G possibly damaging Het
Itprid1 A T 6: 55,953,424 (GRCm39) K913N probably damaging Het
Jade2 T C 11: 51,709,441 (GRCm39) R523G probably benign Het
Kmt2d A T 15: 98,741,806 (GRCm39) D4451E unknown Het
Lax1 T C 1: 133,611,345 (GRCm39) T76A probably benign Het
Map4k1 A G 7: 28,689,181 (GRCm39) probably benign Het
Mcu G A 10: 59,290,817 (GRCm39) T121M probably damaging Het
Mepce T A 5: 137,783,004 (GRCm39) K441* probably null Het
Mettl21e C A 1: 44,245,815 (GRCm39) V144F probably damaging Het
Muc6 T A 7: 141,231,748 (GRCm39) S1049C probably damaging Het
Myo3a A T 2: 22,464,329 (GRCm39) Q1128L probably benign Het
Nat8f2 T C 6: 85,844,754 (GRCm39) S203G probably benign Het
Npas2 A G 1: 39,326,652 (GRCm39) T46A possibly damaging Het
Nup133 T C 8: 124,675,956 (GRCm39) probably benign Het
Oplah C T 15: 76,190,457 (GRCm39) R102H probably benign Het
Or1x6 T A 11: 50,939,090 (GRCm39) I52N probably benign Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or5g29 A T 2: 85,421,184 (GRCm39) Q100L probably damaging Het
Or6d13 A G 6: 116,517,960 (GRCm39) H182R probably damaging Het
Or8g20 C A 9: 39,396,033 (GRCm39) C172F probably damaging Het
Osgep C T 14: 51,162,128 (GRCm39) probably benign Het
Pam A T 1: 97,768,114 (GRCm39) D705E probably damaging Het
Pkd1l3 C G 8: 110,373,008 (GRCm39) N1284K probably damaging Het
Plekhg2 A G 7: 28,064,741 (GRCm39) F407S probably damaging Het
Pygl A G 12: 70,274,113 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rhobtb1 A G 10: 69,084,720 (GRCm39) N37S probably damaging Het
Sema6a T A 18: 47,424,972 (GRCm39) D213V probably damaging Het
Skint11 A T 4: 114,101,806 (GRCm39) Q273L possibly damaging Het
Skint7 A T 4: 111,839,426 (GRCm39) H240L probably benign Het
Slc12a2 C T 18: 58,054,944 (GRCm39) Q862* probably null Het
Smox A G 2: 131,364,100 (GRCm39) S468G probably benign Het
Spc25 A G 2: 69,035,257 (GRCm39) S50P probably damaging Het
Srrm1 A T 4: 135,052,326 (GRCm39) S683T unknown Het
Syne1 T C 10: 5,220,970 (GRCm39) E3103G probably benign Het
Tenm4 C A 7: 96,378,553 (GRCm39) probably benign Het
Tent4b T A 8: 88,974,186 (GRCm39) I294N probably damaging Het
Tmem123 T C 9: 7,791,064 (GRCm39) S122P possibly damaging Het
Trav18 A T 14: 54,068,572 (GRCm39) K4I probably benign Het
Triml1 T C 8: 43,583,420 (GRCm39) S394G probably damaging Het
Ubr4 A T 4: 139,195,413 (GRCm39) S1212C unknown Het
Usp34 G A 11: 23,311,295 (GRCm39) R442Q Het
Usp43 G A 11: 67,782,284 (GRCm39) P378L probably damaging Het
Vmn1r212 A G 13: 23,067,935 (GRCm39) F133L probably benign Het
Vmn1r213 A G 13: 23,195,910 (GRCm39) I164M possibly damaging Het
Vmn2r19 C T 6: 123,292,998 (GRCm39) P347S probably damaging Het
Zfp106 A T 2: 120,355,000 (GRCm39) V1280E possibly damaging Het
Zfp317 T C 9: 19,553,265 (GRCm39) S13P probably benign Het
Zfp608 C A 18: 55,032,618 (GRCm39) A441S probably benign Het
Zup1 T C 10: 33,816,248 (GRCm39) D232G 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
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
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'- CCCACAGGGTTTGTCACATG -3'
(R):5'- CTCTGGGATATAGCCTTGAATAAGTG -3'

Sequencing Primer
(F):5'- TCACATGACGCCCCGTGAC -3'
(R):5'- AGCCTTGAATAAGTGTTCATTGC -3'
Posted On 2020-01-23