Incidental Mutation 'R1648:Myo1h'
ID 174012
Institutional Source Beutler Lab
Gene Symbol Myo1h
Ensembl Gene ENSMUSG00000066952
Gene Name myosin 1H
Synonyms 4631401O15Rik
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114427314-114502637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114474336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 458 (L458F)
Ref Sequence ENSEMBL: ENSMUSP00000132905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124316] [ENSMUST00000169347] [ENSMUST00000202006]
AlphaFold Q9D6A1
Predicted Effect probably damaging
Transcript: ENSMUST00000124316
AA Change: L442F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: L442F

DomainStartEndE-ValueType
MYSc 5 692 N/A SMART
IQ 693 715 1.21e1 SMART
IQ 716 738 6.6e-2 SMART
Pfam:Myosin_TH1 833 1015 5.8e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169347
AA Change: L458F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: L458F

DomainStartEndE-ValueType
MYSc 5 692 N/A SMART
IQ 693 715 1.21e1 SMART
IQ 716 738 6.6e-2 SMART
Pfam:Myosin_TH1 834 1013 2.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202006
AA Change: L442F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: L442F

DomainStartEndE-ValueType
MYSc 5 692 N/A SMART
IQ 693 715 1.21e1 SMART
IQ 716 738 6.6e-2 SMART
Pfam:Myosin_TH1 834 1013 2.3e-28 PFAM
Meta Mutation Damage Score 0.1968 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably damaging Het
Other mutations in Myo1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Myo1h APN 5 114,453,132 (GRCm39) splice site probably benign
IGL00922:Myo1h APN 5 114,498,546 (GRCm39) missense probably damaging 1.00
IGL01022:Myo1h APN 5 114,474,361 (GRCm39) missense possibly damaging 0.67
IGL01364:Myo1h APN 5 114,486,500 (GRCm39) missense probably damaging 1.00
IGL01469:Myo1h APN 5 114,499,330 (GRCm39) missense probably damaging 1.00
IGL01626:Myo1h APN 5 114,453,027 (GRCm39) missense probably damaging 1.00
IGL02026:Myo1h APN 5 114,461,505 (GRCm39) missense probably null 0.07
IGL02156:Myo1h APN 5 114,491,972 (GRCm39) splice site probably benign
IGL02164:Myo1h APN 5 114,472,157 (GRCm39) missense probably damaging 1.00
IGL02429:Myo1h APN 5 114,497,799 (GRCm39) splice site probably benign
IGL02562:Myo1h APN 5 114,496,053 (GRCm39) missense probably benign 0.06
IGL02938:Myo1h APN 5 114,497,000 (GRCm39) missense probably damaging 1.00
R0056:Myo1h UTSW 5 114,468,273 (GRCm39) missense probably damaging 1.00
R0172:Myo1h UTSW 5 114,467,225 (GRCm39) splice site probably null
R0346:Myo1h UTSW 5 114,493,270 (GRCm39) missense probably benign 0.19
R0464:Myo1h UTSW 5 114,498,571 (GRCm39) missense probably damaging 1.00
R0556:Myo1h UTSW 5 114,457,852 (GRCm39) missense probably damaging 1.00
R0723:Myo1h UTSW 5 114,457,741 (GRCm39) missense probably benign 0.20
R0751:Myo1h UTSW 5 114,458,747 (GRCm39) missense probably damaging 1.00
R1470:Myo1h UTSW 5 114,457,765 (GRCm39) missense probably damaging 0.99
R1470:Myo1h UTSW 5 114,457,765 (GRCm39) missense probably damaging 0.99
R1579:Myo1h UTSW 5 114,485,496 (GRCm39) nonsense probably null
R1646:Myo1h UTSW 5 114,455,693 (GRCm39) missense possibly damaging 0.90
R1981:Myo1h UTSW 5 114,491,898 (GRCm39) missense probably damaging 1.00
R2006:Myo1h UTSW 5 114,499,140 (GRCm39) missense probably damaging 1.00
R2697:Myo1h UTSW 5 114,493,274 (GRCm39) missense probably damaging 1.00
R3124:Myo1h UTSW 5 114,466,860 (GRCm39) missense probably benign 0.04
R3195:Myo1h UTSW 5 114,466,801 (GRCm39) missense probably benign
R4255:Myo1h UTSW 5 114,468,198 (GRCm39) missense possibly damaging 0.89
R4613:Myo1h UTSW 5 114,489,737 (GRCm39) missense probably benign 0.02
R4613:Myo1h UTSW 5 114,486,440 (GRCm39) missense possibly damaging 0.73
R4758:Myo1h UTSW 5 114,487,643 (GRCm39) missense probably damaging 1.00
R4784:Myo1h UTSW 5 114,498,660 (GRCm39) missense possibly damaging 0.46
R4785:Myo1h UTSW 5 114,498,660 (GRCm39) missense possibly damaging 0.46
R5511:Myo1h UTSW 5 114,483,958 (GRCm39) nonsense probably null
R5663:Myo1h UTSW 5 114,472,155 (GRCm39) missense probably damaging 1.00
R6186:Myo1h UTSW 5 114,457,864 (GRCm39) missense possibly damaging 0.90
R6243:Myo1h UTSW 5 114,500,208 (GRCm39) missense probably damaging 1.00
R6344:Myo1h UTSW 5 114,466,776 (GRCm39) missense probably damaging 1.00
R6345:Myo1h UTSW 5 114,489,769 (GRCm39) missense probably damaging 1.00
R6383:Myo1h UTSW 5 114,474,325 (GRCm39) missense probably damaging 1.00
R6444:Myo1h UTSW 5 114,453,017 (GRCm39) missense possibly damaging 0.63
R6787:Myo1h UTSW 5 114,458,714 (GRCm39) missense probably damaging 1.00
R6891:Myo1h UTSW 5 114,487,673 (GRCm39) missense probably damaging 1.00
R6990:Myo1h UTSW 5 114,468,221 (GRCm39) missense probably damaging 0.97
R7040:Myo1h UTSW 5 114,497,805 (GRCm39) missense possibly damaging 0.67
R7101:Myo1h UTSW 5 114,480,258 (GRCm39) missense
R7121:Myo1h UTSW 5 114,476,290 (GRCm39) missense
R7206:Myo1h UTSW 5 114,457,836 (GRCm39) nonsense probably null
R7222:Myo1h UTSW 5 114,493,322 (GRCm39) critical splice donor site probably null
R7838:Myo1h UTSW 5 114,466,872 (GRCm39) splice site probably null
R7896:Myo1h UTSW 5 114,474,372 (GRCm39) splice site probably null
R8004:Myo1h UTSW 5 114,458,769 (GRCm39) missense
R8323:Myo1h UTSW 5 114,480,200 (GRCm39) missense
R8874:Myo1h UTSW 5 114,472,163 (GRCm39) missense
R8945:Myo1h UTSW 5 114,470,784 (GRCm39) missense probably damaging 1.00
R9432:Myo1h UTSW 5 114,499,366 (GRCm39) missense possibly damaging 0.92
R9518:Myo1h UTSW 5 114,497,588 (GRCm39) missense probably damaging 0.99
R9527:Myo1h UTSW 5 114,453,098 (GRCm39) missense
R9548:Myo1h UTSW 5 114,499,154 (GRCm39) missense probably benign 0.16
R9687:Myo1h UTSW 5 114,458,769 (GRCm39) missense
R9803:Myo1h UTSW 5 114,483,997 (GRCm39) missense
Z1177:Myo1h UTSW 5 114,472,217 (GRCm39) missense
Predicted Primers
Posted On 2014-04-24