Incidental Mutation 'R7304:Myh14'
ID 567163
Institutional Source Beutler Lab
Gene Symbol Myh14
Ensembl Gene ENSMUSG00000030739
Gene Name myosin, heavy polypeptide 14
Synonyms NMHC II-C, 2400004E04Rik
MMRRC Submission 045365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44605803-44670843 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44629991 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 922 (T922S)
Ref Sequence ENSEMBL: ENSMUSP00000103531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]
AlphaFold Q6URW6
Predicted Effect probably benign
Transcript: ENSMUST00000048102
AA Change: T930S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: T930S

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: T922S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: T922S

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: T930S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: T930S

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: T963S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,644 (GRCm38) D246G probably damaging Het
Abca13 A G 11: 9,297,203 (GRCm38) S2317G probably benign Het
Acap2 A C 16: 31,108,116 (GRCm38) L502R probably benign Het
Amotl2 A G 9: 102,728,350 (GRCm38) E467G probably damaging Het
Apbb1ip A T 2: 22,853,135 (GRCm38) probably null Het
Armc9 C G 1: 86,162,715 (GRCm38) D77E probably benign Het
Art1 T A 7: 102,106,324 (GRCm38) S8T possibly damaging Het
Asic5 G A 3: 82,009,565 (GRCm38) A321T possibly damaging Het
Astn2 A G 4: 66,185,375 (GRCm38) I267T unknown Het
Bmp8a T C 4: 123,342,389 (GRCm38) N107S probably benign Het
Card14 T A 11: 119,337,747 (GRCm38) L633Q probably damaging Het
Chpf C T 1: 75,479,054 (GRCm38) V18M possibly damaging Het
Cog7 T C 7: 121,937,139 (GRCm38) I493V probably benign Het
Col3a1 A T 1: 45,347,811 (GRCm38) N1394I unknown Het
Crybg1 C T 10: 43,997,258 (GRCm38) D1285N probably benign Het
Depdc7 A G 2: 104,723,118 (GRCm38) V395A possibly damaging Het
Dido1 G A 2: 180,687,493 (GRCm38) L379F probably damaging Het
Dnajc13 G T 9: 104,238,514 (GRCm38) T32N probably benign Het
Dok2 T A 14: 70,776,028 (GRCm38) S133R probably benign Het
Ehbp1l1 C T 19: 5,716,382 (GRCm38) R1311H probably damaging Het
Gm15922 T C 7: 3,737,494 (GRCm38) T243A probably damaging Het
Gm3099 A T 14: 4,000,520 (GRCm38) N118I probably damaging Het
Gtse1 A G 15: 85,871,547 (GRCm38) T471A probably benign Het
Heg1 G A 16: 33,760,790 (GRCm38) A13T possibly damaging Het
Ifi209 A T 1: 173,642,590 (GRCm38) Y248F possibly damaging Het
Itgb3bp C G 4: 99,769,521 (GRCm38) E169Q probably damaging Het
Kcna2 A G 3: 107,104,750 (GRCm38) T216A probably benign Het
Kcnj6 A T 16: 94,941,183 (GRCm38) M10K probably benign Het
Krt17 T G 11: 100,257,337 (GRCm38) Q397P probably benign Het
Lrtm1 T A 14: 29,022,118 (GRCm38) M181K probably damaging Het
Map3k5 A G 10: 20,099,555 (GRCm38) H741R probably damaging Het
Mier1 T A 4: 103,139,402 (GRCm38) Y120* probably null Het
Mrvi1 T C 7: 110,899,724 (GRCm38) T367A possibly damaging Het
Nfkbie A T 17: 45,560,141 (GRCm38) I240F possibly damaging Het
Npas3 C A 12: 54,069,041 (GRCm38) H915Q probably damaging Het
Nrg2 A T 18: 36,045,941 (GRCm38) V314E probably benign Het
Olfr373 T A 8: 72,100,346 (GRCm38) Y195* probably null Het
Pds5a T C 5: 65,619,734 (GRCm38) N28S probably damaging Het
Pkhd1l1 A T 15: 44,498,482 (GRCm38) N517I possibly damaging Het
Plekhb1 T C 7: 100,645,667 (GRCm38) Y99C probably benign Het
Plpp6 T C 19: 28,964,217 (GRCm38) S73P probably benign Het
Polb T C 8: 22,639,959 (GRCm38) N199S probably benign Het
Ppp1r13b T C 12: 111,872,406 (GRCm38) N13D possibly damaging Het
Ptprn2 T A 12: 117,248,544 (GRCm38) V862D probably damaging Het
Rassf4 T C 6: 116,640,317 (GRCm38) I242M probably damaging Het
Rnf19a G A 15: 36,254,452 (GRCm38) T320I probably damaging Het
Sctr A T 1: 120,022,240 (GRCm38) E53V probably damaging Het
Srcin1 T C 11: 97,551,693 (GRCm38) D103G probably benign Het
St3gal3 T C 4: 117,957,436 (GRCm38) Q220R Het
Stk40 G A 4: 126,125,690 (GRCm38) E86K probably benign Het
Tas2r104 T A 6: 131,685,042 (GRCm38) I235F possibly damaging Het
Terf2ip T C 8: 112,011,648 (GRCm38) V56A possibly damaging Het
Thsd7b A G 1: 130,103,153 (GRCm38) N1075S probably benign Het
Trak1 A G 9: 121,416,212 (GRCm38) Y51C probably benign Het
Trav16n T A 14: 53,351,402 (GRCm38) V45E probably benign Het
Ttc6 T C 12: 57,576,051 (GRCm38) S79P probably damaging Het
Unc79 C T 12: 103,063,190 (GRCm38) T484M probably damaging Het
Usp49 T C 17: 47,672,871 (GRCm38) V267A possibly damaging Het
Vldlr T A 19: 27,238,604 (GRCm38) D305E possibly damaging Het
Vmn1r226 G T 17: 20,687,749 (GRCm38) C81F probably damaging Het
Vmn1r73 T C 7: 11,756,897 (GRCm38) V214A probably damaging Het
Vmn2r5 T C 3: 64,504,250 (GRCm38) N299S probably damaging Het
Vwa3b T C 1: 37,164,505 (GRCm38) L55S probably damaging Het
Wdr90 T C 17: 25,851,506 (GRCm38) D1105G probably benign Het
Zbtb38 A G 9: 96,687,427 (GRCm38) S535P probably damaging Het
Zfp329 T C 7: 12,810,899 (GRCm38) I233V probably damaging Het
Zfp579 T A 7: 4,994,583 (GRCm38) T110S probably benign Het
Other mutations in Myh14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Myh14 APN 7 44,606,292 (GRCm38) unclassified probably benign
IGL01431:Myh14 APN 7 44,614,358 (GRCm38) missense probably null 0.00
IGL01722:Myh14 APN 7 44,643,532 (GRCm38) missense probably damaging 1.00
IGL01806:Myh14 APN 7 44,657,939 (GRCm38) missense probably benign 0.19
IGL02034:Myh14 APN 7 44,616,293 (GRCm38) missense possibly damaging 0.58
IGL02260:Myh14 APN 7 44,611,571 (GRCm38) missense probably damaging 1.00
IGL02590:Myh14 APN 7 44,624,079 (GRCm38) missense probably damaging 1.00
IGL02696:Myh14 APN 7 44,665,106 (GRCm38) missense probably damaging 1.00
IGL02705:Myh14 APN 7 44,608,536 (GRCm38) missense possibly damaging 0.66
IGL03193:Myh14 APN 7 44,629,945 (GRCm38) missense possibly damaging 0.91
PIT4581001:Myh14 UTSW 7 44,613,482 (GRCm38) missense probably benign 0.04
R0067:Myh14 UTSW 7 44,623,127 (GRCm38) missense probably benign 0.05
R0083:Myh14 UTSW 7 44,634,519 (GRCm38) missense probably damaging 0.98
R0108:Myh14 UTSW 7 44,634,519 (GRCm38) missense probably damaging 0.98
R0152:Myh14 UTSW 7 44,623,181 (GRCm38) missense probably damaging 1.00
R0369:Myh14 UTSW 7 44,660,950 (GRCm38) missense probably damaging 1.00
R0552:Myh14 UTSW 7 44,613,681 (GRCm38) missense probably damaging 1.00
R0699:Myh14 UTSW 7 44,624,971 (GRCm38) missense possibly damaging 0.67
R0763:Myh14 UTSW 7 44,665,367 (GRCm38) missense probably damaging 0.98
R1079:Myh14 UTSW 7 44,630,002 (GRCm38) missense probably damaging 1.00
R1388:Myh14 UTSW 7 44,665,122 (GRCm38) missense probably damaging 0.98
R1432:Myh14 UTSW 7 44,616,299 (GRCm38) missense probably damaging 1.00
R1568:Myh14 UTSW 7 44,611,698 (GRCm38) nonsense probably null
R1579:Myh14 UTSW 7 44,655,694 (GRCm38) splice site probably null
R1598:Myh14 UTSW 7 44,638,394 (GRCm38) missense probably damaging 0.96
R1848:Myh14 UTSW 7 44,632,429 (GRCm38) missense probably damaging 0.98
R1869:Myh14 UTSW 7 44,611,643 (GRCm38) missense possibly damaging 0.95
R1917:Myh14 UTSW 7 44,657,925 (GRCm38) missense probably benign
R1933:Myh14 UTSW 7 44,615,348 (GRCm38) missense probably benign 0.09
R1984:Myh14 UTSW 7 44,639,022 (GRCm38) missense probably damaging 1.00
R2154:Myh14 UTSW 7 44,652,429 (GRCm38) critical splice donor site probably null
R2190:Myh14 UTSW 7 44,661,063 (GRCm38) missense probably damaging 1.00
R2217:Myh14 UTSW 7 44,634,376 (GRCm38) missense probably damaging 1.00
R2239:Myh14 UTSW 7 44,665,183 (GRCm38) missense probably damaging 1.00
R2918:Myh14 UTSW 7 44,616,263 (GRCm38) missense possibly damaging 0.91
R4091:Myh14 UTSW 7 44,632,991 (GRCm38) missense possibly damaging 0.93
R4110:Myh14 UTSW 7 44,628,550 (GRCm38) missense probably benign 0.00
R4199:Myh14 UTSW 7 44,615,503 (GRCm38) nonsense probably null
R4507:Myh14 UTSW 7 44,629,991 (GRCm38) missense probably benign 0.00
R4539:Myh14 UTSW 7 44,627,054 (GRCm38) missense probably damaging 1.00
R4550:Myh14 UTSW 7 44,634,433 (GRCm38) missense probably damaging 1.00
R4673:Myh14 UTSW 7 44,624,330 (GRCm38) missense probably damaging 1.00
R4768:Myh14 UTSW 7 44,613,675 (GRCm38) missense probably benign 0.19
R4832:Myh14 UTSW 7 44,625,142 (GRCm38) missense probably benign 0.31
R4853:Myh14 UTSW 7 44,608,448 (GRCm38) missense probably damaging 1.00
R4901:Myh14 UTSW 7 44,661,040 (GRCm38) missense probably damaging 1.00
R4928:Myh14 UTSW 7 44,635,502 (GRCm38) missense probably benign 0.00
R5070:Myh14 UTSW 7 44,616,248 (GRCm38) missense possibly damaging 0.91
R5166:Myh14 UTSW 7 44,628,855 (GRCm38) missense probably damaging 0.99
R5726:Myh14 UTSW 7 44,643,462 (GRCm38) critical splice donor site probably null
R5786:Myh14 UTSW 7 44,613,463 (GRCm38) missense probably benign 0.23
R5895:Myh14 UTSW 7 44,606,709 (GRCm38) missense probably damaging 1.00
R5961:Myh14 UTSW 7 44,623,094 (GRCm38) missense probably damaging 0.96
R6014:Myh14 UTSW 7 44,625,078 (GRCm38) missense probably null
R6080:Myh14 UTSW 7 44,655,611 (GRCm38) missense probably damaging 1.00
R6187:Myh14 UTSW 7 44,627,033 (GRCm38) missense probably damaging 1.00
R6657:Myh14 UTSW 7 44,637,846 (GRCm38) missense probably damaging 1.00
R6833:Myh14 UTSW 7 44,624,379 (GRCm38) nonsense probably null
R6894:Myh14 UTSW 7 44,633,512 (GRCm38) missense probably damaging 1.00
R6916:Myh14 UTSW 7 44,629,313 (GRCm38) missense probably damaging 0.96
R6962:Myh14 UTSW 7 44,657,939 (GRCm38) missense probably benign 0.36
R7066:Myh14 UTSW 7 44,630,755 (GRCm38) missense possibly damaging 0.69
R7261:Myh14 UTSW 7 44,624,337 (GRCm38) nonsense probably null
R7303:Myh14 UTSW 7 44,611,701 (GRCm38) missense probably damaging 1.00
R7327:Myh14 UTSW 7 44,611,553 (GRCm38) missense possibly damaging 0.53
R7380:Myh14 UTSW 7 44,661,042 (GRCm38) missense probably damaging 1.00
R7570:Myh14 UTSW 7 44,632,426 (GRCm38) missense probably benign 0.37
R7622:Myh14 UTSW 7 44,632,422 (GRCm38) missense probably benign 0.25
R7681:Myh14 UTSW 7 44,624,148 (GRCm38) missense possibly damaging 0.81
R7718:Myh14 UTSW 7 44,661,040 (GRCm38) missense probably damaging 1.00
R7910:Myh14 UTSW 7 44,632,395 (GRCm38) missense probably damaging 1.00
R8054:Myh14 UTSW 7 44,625,127 (GRCm38) missense probably damaging 0.97
R8088:Myh14 UTSW 7 44,665,496 (GRCm38) start codon destroyed probably null 0.94
R8164:Myh14 UTSW 7 44,625,033 (GRCm38) missense probably benign 0.01
R8260:Myh14 UTSW 7 44,615,376 (GRCm38) missense probably damaging 1.00
R8299:Myh14 UTSW 7 44,627,048 (GRCm38) missense probably damaging 1.00
R8410:Myh14 UTSW 7 44,633,483 (GRCm38) missense probably damaging 1.00
R8723:Myh14 UTSW 7 44,622,983 (GRCm38) missense probably damaging 1.00
R8853:Myh14 UTSW 7 44,616,254 (GRCm38) missense probably benign 0.08
R8934:Myh14 UTSW 7 44,657,428 (GRCm38) missense probably benign
R9169:Myh14 UTSW 7 44,621,857 (GRCm38) missense possibly damaging 0.73
R9395:Myh14 UTSW 7 44,625,160 (GRCm38) missense possibly damaging 0.66
R9451:Myh14 UTSW 7 44,624,319 (GRCm38) critical splice donor site probably null
X0026:Myh14 UTSW 7 44,614,394 (GRCm38) missense probably benign 0.00
X0063:Myh14 UTSW 7 44,624,133 (GRCm38) missense probably damaging 1.00
Z1176:Myh14 UTSW 7 44,638,309 (GRCm38) missense probably damaging 0.98
Z1176:Myh14 UTSW 7 44,608,515 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTATCTGTGCTTTGGACCCTC -3'
(R):5'- CAACAGCAAGGTTACGGGTG -3'

Sequencing Primer
(F):5'- TTTGGACCCTCGGAGCTGAG -3'
(R):5'- GCTCAAGGGACAGGGTCTG -3'
Posted On 2019-06-26