Incidental Mutation 'R4335:Myo19'
ID 323744
Institutional Source Beutler Lab
Gene Symbol Myo19
Ensembl Gene ENSMUSG00000020527
Gene Name myosin XIX
Synonyms Myohd1, 1110055A02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R4335 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 84770996-84802052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84799114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 816 (A816T)
Ref Sequence ENSEMBL: ENSMUSP00000091502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093969] [ENSMUST00000103195]
AlphaFold Q5SV80
Predicted Effect probably benign
Transcript: ENSMUST00000093969
AA Change: A816T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: A816T

DomainStartEndE-ValueType
MYSc 29 759 4.07e-219 SMART
IQ 760 782 1.74e1 SMART
IQ 783 804 1.97e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103195
SMART Domains Protein: ENSMUSP00000099484
Gene: ENSMUSG00000020526

DomainStartEndE-ValueType
Pfam:zf-HIT 7 36 9.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144552
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G A 11: 110,042,843 (GRCm39) T402M probably damaging Het
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Armh1 A T 4: 117,071,660 (GRCm39) I308N probably damaging Het
Ceacam5 G A 7: 17,486,054 (GRCm39) R517Q probably benign Het
Clic4 C T 4: 134,945,916 (GRCm39) S167N probably benign Het
Ehbp1l1 A T 19: 5,758,797 (GRCm39) L1644Q probably damaging Het
Erh A G 12: 80,689,615 (GRCm39) L3P probably benign Het
Fbxw7 T C 3: 84,879,802 (GRCm39) C375R probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fsd2 A T 7: 81,191,813 (GRCm39) S521R probably damaging Het
Garin2 T C 12: 78,759,006 (GRCm39) S109P possibly damaging Het
Hace1 A G 10: 45,586,057 (GRCm39) Y865C probably damaging Het
Iqca1l A G 5: 24,749,368 (GRCm39) L710P probably damaging Het
Iqcf1 G A 9: 106,379,072 (GRCm39) R62H possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Leng8 T C 7: 4,150,037 (GRCm39) Y781H probably damaging Het
Med8 G T 4: 118,266,567 (GRCm39) probably null Het
Nat8f2 A G 6: 85,845,233 (GRCm39) L43P probably damaging Het
Omd A C 13: 49,743,712 (GRCm39) D254A probably benign Het
Psd2 G T 18: 36,140,583 (GRCm39) A622S probably damaging Het
Rnf207 G A 4: 152,400,062 (GRCm39) probably benign Het
Rsbn1l T C 5: 21,113,191 (GRCm39) I444V probably null Het
Rxfp1 A G 3: 79,594,105 (GRCm39) probably null Het
Selenot C A 3: 58,492,722 (GRCm39) R70S possibly damaging Het
Sox6 A G 7: 115,111,959 (GRCm39) S557P probably benign Het
Sp9 G A 2: 73,104,633 (GRCm39) V396M probably damaging Het
Ston1 T C 17: 88,943,125 (GRCm39) F177S probably damaging Het
Syne2 A G 12: 76,074,866 (GRCm39) E4602G probably damaging Het
Tbc1d19 A G 5: 54,029,619 (GRCm39) T327A possibly damaging Het
Tsga13 T C 6: 30,876,980 (GRCm39) D179G probably damaging Het
Wdr27 T A 17: 15,141,018 (GRCm39) probably null Het
Other mutations in Myo19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Myo19 APN 11 84,800,324 (GRCm39) missense probably benign 0.00
IGL01120:Myo19 APN 11 84,798,104 (GRCm39) missense probably damaging 0.96
IGL01542:Myo19 APN 11 84,800,372 (GRCm39) missense probably damaging 0.96
IGL02341:Myo19 APN 11 84,778,871 (GRCm39) splice site probably benign
IGL02708:Myo19 APN 11 84,790,222 (GRCm39) missense possibly damaging 0.89
IGL03223:Myo19 APN 11 84,801,297 (GRCm39) missense possibly damaging 0.57
BB004:Myo19 UTSW 11 84,791,046 (GRCm39) missense probably damaging 1.00
BB014:Myo19 UTSW 11 84,791,046 (GRCm39) missense probably damaging 1.00
R0009:Myo19 UTSW 11 84,778,995 (GRCm39) critical splice donor site probably null
R0125:Myo19 UTSW 11 84,779,001 (GRCm39) splice site probably benign
R0142:Myo19 UTSW 11 84,785,429 (GRCm39) missense probably damaging 1.00
R0226:Myo19 UTSW 11 84,788,558 (GRCm39) splice site probably benign
R0230:Myo19 UTSW 11 84,784,159 (GRCm39) missense possibly damaging 0.91
R0482:Myo19 UTSW 11 84,800,245 (GRCm39) missense probably benign 0.00
R1981:Myo19 UTSW 11 84,782,996 (GRCm39) missense possibly damaging 0.46
R2035:Myo19 UTSW 11 84,788,434 (GRCm39) missense probably benign
R2185:Myo19 UTSW 11 84,783,047 (GRCm39) missense probably benign 0.00
R3176:Myo19 UTSW 11 84,783,001 (GRCm39) missense probably benign 0.01
R3276:Myo19 UTSW 11 84,783,001 (GRCm39) missense probably benign 0.01
R3824:Myo19 UTSW 11 84,776,505 (GRCm39) missense probably damaging 0.98
R3914:Myo19 UTSW 11 84,785,429 (GRCm39) missense probably damaging 1.00
R4333:Myo19 UTSW 11 84,799,114 (GRCm39) missense probably benign 0.00
R4647:Myo19 UTSW 11 84,785,468 (GRCm39) missense probably damaging 1.00
R4968:Myo19 UTSW 11 84,792,328 (GRCm39) missense probably damaging 1.00
R4971:Myo19 UTSW 11 84,783,023 (GRCm39) missense probably damaging 1.00
R5083:Myo19 UTSW 11 84,794,037 (GRCm39) missense possibly damaging 0.60
R5284:Myo19 UTSW 11 84,776,098 (GRCm39) splice site probably null
R5558:Myo19 UTSW 11 84,801,274 (GRCm39) missense probably damaging 1.00
R5739:Myo19 UTSW 11 84,788,450 (GRCm39) missense probably damaging 1.00
R5982:Myo19 UTSW 11 84,790,226 (GRCm39) missense probably damaging 0.97
R6093:Myo19 UTSW 11 84,776,535 (GRCm39) missense probably damaging 1.00
R6444:Myo19 UTSW 11 84,786,134 (GRCm39) missense probably benign
R6657:Myo19 UTSW 11 84,788,022 (GRCm39) missense probably benign
R6945:Myo19 UTSW 11 84,788,386 (GRCm39) missense probably benign 0.06
R7022:Myo19 UTSW 11 84,791,373 (GRCm39) missense probably damaging 0.99
R7058:Myo19 UTSW 11 84,798,194 (GRCm39) missense possibly damaging 0.89
R7150:Myo19 UTSW 11 84,796,439 (GRCm39) missense probably benign
R7155:Myo19 UTSW 11 84,791,412 (GRCm39) missense probably damaging 1.00
R7478:Myo19 UTSW 11 84,776,626 (GRCm39) missense probably benign 0.41
R7486:Myo19 UTSW 11 84,796,463 (GRCm39) missense probably benign
R7833:Myo19 UTSW 11 84,800,093 (GRCm39) missense probably benign
R7921:Myo19 UTSW 11 84,799,064 (GRCm39) missense possibly damaging 0.55
R7923:Myo19 UTSW 11 84,776,536 (GRCm39) missense possibly damaging 0.87
R7927:Myo19 UTSW 11 84,791,046 (GRCm39) missense probably damaging 1.00
R9105:Myo19 UTSW 11 84,794,029 (GRCm39) missense probably damaging 0.99
R9714:Myo19 UTSW 11 84,773,542 (GRCm39) start codon destroyed probably null 0.18
X0053:Myo19 UTSW 11 84,788,541 (GRCm39) nonsense probably null
Z1176:Myo19 UTSW 11 84,800,176 (GRCm39) frame shift probably null
Z1176:Myo19 UTSW 11 84,776,104 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CAGGAATGACTTTGTACTGACAG -3'
(R):5'- CTGAACTAGACAGACAGGCTC -3'

Sequencing Primer
(F):5'- ACTGACAGAGTGTATCCCTGG -3'
(R):5'- AAACTGAAGCGCCTTGGC -3'
Posted On 2015-06-24