Incidental Mutation 'IGL03223:Myo19'
ID413713
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: 0.185) question?
Stock #IGL03223
Quality Score
Status
Chromosome11
Chromosomal Location84880148-84911226 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84910471 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 948 (T948A)
Ref Sequence ENSEMBL: ENSMUSP00000091502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093969] [ENSMUST00000103195]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093969
AA Change: T948A

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: T948A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156046
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 T A 19: 3,915,329 H394L probably damaging Het
B430306N03Rik G A 17: 48,316,868 V66I probably damaging Het
Btbd10 T C 7: 113,332,670 N175S probably damaging Het
Dock4 C A 12: 40,817,594 Q1390K probably damaging Het
Eea1 A C 10: 96,039,611 E1248A probably damaging Het
Farp2 T A 1: 93,617,602 Y827* probably null Het
Gcc2 A G 10: 58,298,734 Y1510C probably damaging Het
Igfbp7 A C 5: 77,349,471 probably benign Het
Il1rapl1 A C X: 87,300,735 C185G probably damaging Het
Itga7 A G 10: 128,948,811 probably benign Het
Itsn1 T C 16: 91,905,306 V12A probably benign Het
Lrrc4 A T 6: 28,831,470 C49S probably damaging Het
Lrrc49 T A 9: 60,687,845 K5N possibly damaging Het
Myh13 T C 11: 67,350,242 I815T probably benign Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Nhs T A X: 161,841,906 I837F probably damaging Het
Olfr1450 T C 19: 12,953,904 V105A probably benign Het
Olfr1467 G T 19: 13,365,281 V218L probably benign Het
Pfpl A T 19: 12,430,074 Q563L probably damaging Het
Swt1 A G 1: 151,379,419 M809T possibly damaging Het
Tbc1d13 T A 2: 30,148,636 I311N probably damaging Het
Tgs1 T C 4: 3,591,322 probably benign Het
Usf3 C T 16: 44,216,450 T431M probably damaging Het
Vdac1 G A 11: 52,376,655 R93H probably benign Het
Vmn1r234 G A 17: 21,229,391 G189D probably damaging Het
Zfp14 A G 7: 30,038,433 Y376H probably damaging Het
Zfp472 T C 17: 32,977,274 C108R probably benign Het
Zfp658 A G 7: 43,567,311 E35G possibly damaging 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
IGL02708:Myo19 APN 11 84899396 missense possibly damaging 0.89
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 unclassified 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 On2016-08-02