Incidental Mutation 'IGL01087:Myo1d'
ID52259
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? Possibly non essential (E-score: 0.264) question?
Stock #IGL01087
Quality Score
Status
Chromosome11
Chromosomal Location80482126-80780025 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80682435 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 189 (S189P)
Ref Sequence ENSEMBL: ENSMUSP00000066948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041065] [ENSMUST00000070997]
Predicted Effect probably damaging
Transcript: ENSMUST00000041065
AA Change: S189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: S189P

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 damaging
Transcript: ENSMUST00000070997
AA Change: S189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: S189P

DomainStartEndE-ValueType
MYSc 3 696 N/A SMART
IQ 697 719 1.46e-3 SMART
Pfam:Myosin_TH1 802 913 1.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125944
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,162,788 probably null Het
Abca6 C A 11: 110,191,650 A1166S probably benign Het
Arhgdib C A 6: 136,933,624 K46N probably damaging Het
Ash1l T A 3: 89,063,902 V2507D probably damaging Het
B4galnt1 A T 10: 127,166,191 I63F probably damaging Het
Bclaf1 A G 10: 20,325,310 D394G probably damaging Het
Btbd10 T C 7: 113,316,556 D442G probably damaging Het
Cd44 A T 2: 102,822,262 L492H probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Chsy1 T G 7: 66,172,126 V703G possibly damaging Het
Clrn2 T C 5: 45,463,969 probably benign Het
Crtc3 T C 7: 80,598,739 probably benign Het
Cul1 A G 6: 47,509,044 T342A probably benign Het
Dgki T C 6: 37,012,911 D631G probably damaging Het
Eif3b T C 5: 140,441,107 I706T probably damaging Het
Fam120a A G 13: 48,902,073 L713P probably damaging Het
I830077J02Rik C A 3: 105,928,733 probably null Het
Jmjd8 A C 17: 25,829,171 probably benign Het
Kmt5a T C 5: 124,451,380 probably benign Het
Krt87 C A 15: 101,431,825 C486F probably benign Het
Lrp2 A T 2: 69,524,073 N470K probably damaging Het
Med1 C A 11: 98,180,285 D79Y probably damaging Het
Myo9a T A 9: 59,790,078 Y381N possibly damaging Het
Nipbl C A 15: 8,350,497 S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 noncoding transcript Het
Nutm2 A G 13: 50,469,629 T121A probably damaging Het
Olfr93 C T 17: 37,151,441 C177Y probably damaging Het
Opa1 C T 16: 29,586,997 P127S probably damaging Het
Pcdh15 A T 10: 74,342,632 I574F possibly damaging Het
Pcnx G A 12: 81,995,339 probably benign Het
Prex2 A G 1: 11,068,104 T136A probably benign Het
Prph2 A G 17: 46,911,159 T155A probably damaging Het
Rsl1d1 T C 16: 11,194,675 K296E possibly damaging Het
Syne1 A T 10: 5,425,708 I128N probably damaging Het
Tlk1 A T 2: 70,752,316 N156K possibly damaging Het
Trem2 C T 17: 48,351,928 T222I probably damaging Het
Trip12 A T 1: 84,757,859 F872L probably damaging Het
Trrap T A 5: 144,846,539 S3393T probably damaging Het
Vwa8 T A 14: 78,935,229 S304T probably benign Het
Zc3h7a T C 16: 11,153,182 T328A probably benign Het
Other mutations in Myo1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Myo1d APN 11 80601740 missense probably benign
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
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
Z1088:Myo1d UTSW 11 80674898 missense probably benign 0.01
Posted On2013-06-21