Incidental Mutation 'IGL02708:Myo19'
ID304436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo19
Ensembl Gene ENSMUSG00000020527
Gene Namemyosin XIX
SynonymsMyohd1, 1110055A02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL02708
Quality Score
Status
Chromosome11
Chromosomal Location84880148-84911226 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84899396 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 393 (S393P)
Ref Sequence ENSEMBL: ENSMUSP00000091502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093969]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093969
AA Change: S393P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: S393P

DomainStartEndE-ValueType
MYSc 29 759 4.07e-219 SMART
IQ 760 782 1.74e1 SMART
IQ 783 804 1.97e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141705
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,500,801 V1104D probably damaging Het
Adgrl2 A T 3: 148,826,525 V1024E probably damaging Het
Agbl2 A G 2: 90,801,342 H348R probably benign Het
Aifm2 T C 10: 61,738,575 probably benign Het
Ankrd26 T C 6: 118,518,418 probably benign Het
Avpr1b A G 1: 131,600,651 D304G probably damaging Het
Duox1 A G 2: 122,326,017 D475G possibly damaging Het
E2f8 T C 7: 48,867,234 probably null Het
Fat2 T A 11: 55,282,385 I2501F probably damaging Het
Gm13119 T A 4: 144,363,413 L341H probably damaging Het
Gm4181 A G 14: 51,633,232 C91R probably benign Het
Gm5424 T A 10: 62,071,611 noncoding transcript Het
Gnai3 A G 3: 108,118,344 F140L probably benign Het
Htra1 A T 7: 130,962,035 D212V probably damaging Het
Irgm2 T C 11: 58,220,524 V347A probably benign Het
Itch A G 2: 155,174,044 T150A probably benign Het
Itgb3 A C 11: 104,637,829 I261L possibly damaging Het
Kalrn C T 16: 34,392,050 V31M probably damaging Het
Klra7 C T 6: 130,226,500 C181Y probably damaging Het
Klrb1 A G 6: 128,713,585 L58S probably benign Het
Kndc1 A G 7: 139,901,181 E61G probably damaging Het
Krt78 T A 15: 101,953,407 T135S possibly damaging Het
Mpdz A G 4: 81,284,571 probably null Het
Mphosph6 A G 8: 117,792,786 probably benign Het
Olfr586 A G 7: 103,121,820 probably benign Het
Olfr968 T C 9: 39,771,918 N294S probably damaging Het
Pkdrej T C 15: 85,820,787 Y316C probably damaging Het
Pkp3 A T 7: 141,089,768 probably benign Het
Ppil2 A T 16: 17,106,008 V59D probably benign Het
Psmb8 A G 17: 34,201,243 K270E probably benign Het
Ptprq T C 10: 107,652,700 N959D probably damaging Het
Rab6b T G 9: 103,160,875 probably null Het
Rhobtb3 T C 13: 75,917,724 D180G probably damaging Het
Sccpdh G A 1: 179,680,509 C238Y probably benign Het
Srm C T 4: 148,593,346 S147L probably benign Het
Synj1 A T 16: 90,991,462 S173T probably damaging Het
Tas1r1 T C 4: 152,028,340 E752G possibly damaging Het
Tmem151a G T 19: 5,082,847 Y110* probably null Het
Ttn A G 2: 76,726,613 V30016A probably damaging Het
Txnrd2 A G 16: 18,468,840 E331G probably benign Het
Vldlr T C 19: 27,238,085 C161R possibly damaging Het
Vmn1r91 T A 7: 20,101,490 S111R probably damaging Het
Vmn2r66 T A 7: 85,006,588 I407F probably benign Het
Vps13d T C 4: 145,128,280 M2258V probably benign Het
Other mutations in Myo19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Myo19 APN 11 84909498 missense probably benign 0.00
IGL01120:Myo19 APN 11 84907278 missense probably damaging 0.96
IGL01542:Myo19 APN 11 84909546 missense probably damaging 0.96
IGL02341:Myo19 APN 11 84888045 splice site probably benign
IGL03223:Myo19 APN 11 84910471 missense possibly damaging 0.57
BB004:Myo19 UTSW 11 84900220 missense probably damaging 1.00
BB014:Myo19 UTSW 11 84900220 missense probably damaging 1.00
R0009:Myo19 UTSW 11 84888169 critical splice donor site probably null
R0125:Myo19 UTSW 11 84888175 splice site probably benign
R0142:Myo19 UTSW 11 84894603 missense probably damaging 1.00
R0226:Myo19 UTSW 11 84897732 splice site probably benign
R0230:Myo19 UTSW 11 84893333 missense possibly damaging 0.91
R0482:Myo19 UTSW 11 84909419 missense probably benign 0.00
R1981:Myo19 UTSW 11 84892170 missense possibly damaging 0.46
R2035:Myo19 UTSW 11 84897608 missense probably benign
R2185:Myo19 UTSW 11 84892221 missense probably benign 0.00
R3176:Myo19 UTSW 11 84892175 missense probably benign 0.01
R3276:Myo19 UTSW 11 84892175 missense probably benign 0.01
R3824:Myo19 UTSW 11 84885679 missense probably damaging 0.98
R3914:Myo19 UTSW 11 84894603 missense probably damaging 1.00
R4333:Myo19 UTSW 11 84908288 missense probably benign 0.00
R4335:Myo19 UTSW 11 84908288 missense probably benign 0.00
R4647:Myo19 UTSW 11 84894642 missense probably damaging 1.00
R4968:Myo19 UTSW 11 84901502 missense probably damaging 1.00
R4971:Myo19 UTSW 11 84892197 missense probably damaging 1.00
R5083:Myo19 UTSW 11 84903211 missense possibly damaging 0.60
R5284:Myo19 UTSW 11 84885272 splice site probably null
R5558:Myo19 UTSW 11 84910448 missense probably damaging 1.00
R5739:Myo19 UTSW 11 84897624 missense probably damaging 1.00
R5982:Myo19 UTSW 11 84899400 missense probably damaging 0.97
R6093:Myo19 UTSW 11 84885709 missense probably damaging 1.00
R6444:Myo19 UTSW 11 84895308 missense probably benign
R6657:Myo19 UTSW 11 84897196 missense probably benign
R6945:Myo19 UTSW 11 84897560 missense probably benign 0.06
R7022:Myo19 UTSW 11 84900547 missense probably damaging 0.99
R7058:Myo19 UTSW 11 84907368 missense possibly damaging 0.89
R7150:Myo19 UTSW 11 84905613 missense probably benign
R7155:Myo19 UTSW 11 84900586 missense probably damaging 1.00
R7478:Myo19 UTSW 11 84885800 missense probably benign 0.41
R7486:Myo19 UTSW 11 84905637 missense probably benign
R7833:Myo19 UTSW 11 84909267 missense probably benign
R7921:Myo19 UTSW 11 84908238 missense possibly damaging 0.55
R7923:Myo19 UTSW 11 84885710 missense possibly damaging 0.87
R7927:Myo19 UTSW 11 84900220 missense probably damaging 1.00
X0053:Myo19 UTSW 11 84897715 nonsense probably null
Z1176:Myo19 UTSW 11 84885278 missense probably benign 0.05
Z1176:Myo19 UTSW 11 84909350 frame shift probably null
Posted On2015-04-16