Incidental Mutation 'IGL00432:Myo1d'
ID4532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo1d
Ensembl Gene ENSMUSG00000035441
Gene Namemyosin ID
Synonyms9930104H07Rik, D11Ertd9e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00432
Quality Score
Status
Chromosome11
Chromosomal Location80482126-80780025 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80601740 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 730 (Y730H)
Ref Sequence ENSEMBL: ENSMUSP00000066948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041065] [ENSMUST00000070997]
Predicted Effect probably benign
Transcript: ENSMUST00000041065
AA Change: Y730H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: Y730H

DomainStartEndE-ValueType
MYSc 3 696 N/A SMART
IQ 697 719 1.46e-3 SMART
Pfam:Myosin_TH1 803 1006 4.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070997
AA Change: Y730H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: Y730H

DomainStartEndE-ValueType
MYSc 3 696 N/A SMART
IQ 697 719 1.46e-3 SMART
Pfam:Myosin_TH1 802 913 1.8e-26 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A T 1: 130,742,836 Q265L possibly damaging Het
Akr1c18 T A 13: 4,137,233 H168L probably damaging Het
Arid3b A G 9: 57,833,924 S80P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brd1 A C 15: 88,730,158 V178G probably benign Het
Brd2 C T 17: 34,114,423 R26Q probably damaging Het
Ddr2 T C 1: 169,997,958 M358V probably benign Het
Dnajc14 A G 10: 128,806,332 D41G probably damaging Het
Erap1 T G 13: 74,673,659 V711G probably benign Het
Gchfr A G 2: 119,169,748 R37G probably damaging Het
Gm20518 T A 16: 17,858,498 N136I probably damaging Het
Grm6 A T 11: 50,863,297 probably benign Het
Hydin T A 8: 110,601,252 V4797E probably damaging Het
Iws1 C A 18: 32,084,688 N448K probably benign Het
Lin7c T C 2: 109,896,453 probably benign Het
Lrrc40 T A 3: 158,048,450 L196Q probably damaging Het
Lrrtm2 C T 18: 35,213,268 G327D probably benign Het
Masp1 C T 16: 23,513,851 C78Y probably damaging Het
Mmd C T 11: 90,264,534 R101W probably damaging Het
Pcdh15 A G 10: 74,291,082 probably benign Het
Pglyrp4 G A 3: 90,739,028 V290M probably damaging Het
Plxna2 G A 1: 194,644,096 V113I probably benign Het
Prkch T A 12: 73,702,589 probably benign Het
Rabgef1 G T 5: 130,208,724 E213* probably null Het
Rdh16f2 T A 10: 127,866,664 C37S probably damaging Het
Reln A G 5: 22,010,127 Y1109H probably damaging Het
Scn7a A T 2: 66,741,982 L215* probably null Het
Slc25a33 A T 4: 149,744,919 L261H probably damaging Het
Slc28a3 A T 13: 58,569,411 probably null Het
Slc38a6 T C 12: 73,351,803 I369T probably benign Het
Tgm4 A T 9: 123,062,382 probably benign Het
Tnr A G 1: 159,861,245 I426V probably benign Het
Vmn1r216 A G 13: 23,099,404 I86V probably benign Het
Wwc1 G A 11: 35,844,202 P949S possibly damaging Het
Zfp326 A T 5: 105,896,533 I286F probably damaging Het
Other mutations in Myo1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Myo1d APN 11 80682435 missense probably damaging 1.00
IGL01326:Myo1d APN 11 80684321 splice site probably benign
IGL01431:Myo1d APN 11 80674839 missense probably damaging 1.00
IGL01595:Myo1d APN 11 80676110 missense probably benign 0.00
IGL01811:Myo1d APN 11 80692997 missense probably damaging 0.96
IGL02301:Myo1d APN 11 80676853 missense probably benign 0.23
IGL02388:Myo1d APN 11 80637997 nonsense probably null
IGL02485:Myo1d APN 11 80666581 missense probably damaging 1.00
IGL03017:Myo1d APN 11 80601626 missense probably benign 0.26
horton UTSW 11 80674708 missense probably damaging 1.00
multifaceted UTSW 11 80693072 missense probably damaging 1.00
whisper UTSW 11 80484332 missense probably damaging 0.99
whisper2 UTSW 11 80666578 missense probably damaging 1.00
whisper3 UTSW 11 80557521 missense probably damaging 1.00
R0069:Myo1d UTSW 11 80637953 missense probably damaging 1.00
R0069:Myo1d UTSW 11 80637953 missense probably damaging 1.00
R0081:Myo1d UTSW 11 80557523 missense probably benign 0.00
R0096:Myo1d UTSW 11 80484332 missense probably damaging 0.99
R0096:Myo1d UTSW 11 80484332 missense probably damaging 0.99
R0244:Myo1d UTSW 11 80674708 missense probably damaging 1.00
R0711:Myo1d UTSW 11 80484332 missense probably damaging 0.99
R0746:Myo1d UTSW 11 80586879 missense possibly damaging 0.94
R1084:Myo1d UTSW 11 80684395 missense probably damaging 1.00
R1514:Myo1d UTSW 11 80685908 missense probably damaging 0.97
R1676:Myo1d UTSW 11 80684421 missense probably damaging 1.00
R1862:Myo1d UTSW 11 80663048 missense probably damaging 1.00
R2497:Myo1d UTSW 11 80674821 missense probably damaging 1.00
R2512:Myo1d UTSW 11 80779717 missense probably benign 0.00
R3425:Myo1d UTSW 11 80601638 missense probably benign
R3429:Myo1d UTSW 11 80682410 missense probably damaging 1.00
R3917:Myo1d UTSW 11 80666578 missense probably damaging 1.00
R3928:Myo1d UTSW 11 80484261 missense probably benign 0.09
R4706:Myo1d UTSW 11 80666641 missense probably damaging 0.96
R4723:Myo1d UTSW 11 80779841 utr 5 prime probably benign
R4924:Myo1d UTSW 11 80674678 missense probably damaging 1.00
R5042:Myo1d UTSW 11 80557521 missense probably damaging 1.00
R5320:Myo1d UTSW 11 80684323 critical splice donor site probably null
R5481:Myo1d UTSW 11 80663095 missense possibly damaging 0.79
R6214:Myo1d UTSW 11 80779791 start codon destroyed probably null 0.98
R6235:Myo1d UTSW 11 80692944 missense probably benign 0.23
R6282:Myo1d UTSW 11 80557512 missense probably damaging 0.99
R6468:Myo1d UTSW 11 80557474 missense probably benign 0.00
R6668:Myo1d UTSW 11 80583875 intron probably benign
R6954:Myo1d UTSW 11 80674957 missense probably benign 0.21
R7077:Myo1d UTSW 11 80674634 missense probably damaging 1.00
R7078:Myo1d UTSW 11 80674634 missense probably damaging 1.00
R7080:Myo1d UTSW 11 80674634 missense probably damaging 1.00
R7172:Myo1d UTSW 11 80592795 missense probably benign 0.16
R7276:Myo1d UTSW 11 80693072 missense probably damaging 1.00
R7467:Myo1d UTSW 11 80586917 missense probably damaging 1.00
R7650:Myo1d UTSW 11 80601684 missense probably benign
R7678:Myo1d UTSW 11 80676893 missense possibly damaging 0.80
R7859:Myo1d UTSW 11 80684377 missense probably damaging 1.00
R8324:Myo1d UTSW 11 80557521 missense probably damaging 1.00
R8329:Myo1d UTSW 11 80638074 missense probably benign 0.21
R8474:Myo1d UTSW 11 80670919 missense possibly damaging 0.93
R8799:Myo1d UTSW 11 80684379 missense probably damaging 1.00
R8810:Myo1d UTSW 11 80674932 missense probably damaging 1.00
R8810:Myo1d UTSW 11 80676932 missense probably benign 0.30
R8823:Myo1d UTSW 11 80601745 missense possibly damaging 0.91
Z1088:Myo1d UTSW 11 80674898 missense probably benign 0.01
Posted On2012-04-20