Incidental Mutation 'R5511:Myo1h'
ID 431215
Institutional Source Beutler Lab
Gene Symbol Myo1h
Ensembl Gene ENSMUSG00000066952
Gene Name myosin 1H
Synonyms 4631401O15Rik
MMRRC Submission 043072-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5511 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114427314-114502637 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 114483958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 519 (L519*)
Ref Sequence ENSEMBL: ENSMUSP00000144110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124316] [ENSMUST00000169347] [ENSMUST00000202006]
AlphaFold Q9D6A1
Predicted Effect probably null
Transcript: ENSMUST00000124316
AA Change: L519*
SMART Domains Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: L519*

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 null
Transcript: ENSMUST00000169347
AA Change: L535*
SMART Domains Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: L535*

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 null
Transcript: ENSMUST00000202006
AA Change: L519*
SMART Domains Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: L519*

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 0.9718 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.1%
  • 20x: 90.3%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,654,685 (GRCm39) L173P probably damaging Het
Agl A T 3: 116,582,209 (GRCm39) V271D possibly damaging Het
Alox15 G T 11: 70,240,808 (GRCm39) P191T probably benign Het
Apaf1 T C 10: 90,890,254 (GRCm39) Y583C probably damaging Het
Aqp9 T A 9: 71,070,375 (GRCm39) probably benign Het
Bms1 A G 6: 118,365,848 (GRCm39) F1113L possibly damaging Het
Cap1 A C 4: 122,756,583 (GRCm39) probably benign Het
Car11 T C 7: 45,349,885 (GRCm39) W35R probably damaging Het
Casc3 T A 11: 98,701,740 (GRCm39) Y91* probably null Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cd22 A T 7: 30,569,496 (GRCm39) I540N probably damaging Het
Chad A T 11: 94,456,072 (GRCm39) E50V probably damaging Het
Chd3 C G 11: 69,252,301 (GRCm39) G34R probably damaging Het
Col9a1 T C 1: 24,218,619 (GRCm39) V77A unknown Het
Copg1 G A 6: 87,889,276 (GRCm39) V873M probably damaging Het
Dnhd1 T A 7: 105,363,363 (GRCm39) V3975E probably damaging Het
Dock6 A T 9: 21,728,703 (GRCm39) V1290D possibly damaging Het
Elp2 A T 18: 24,745,507 (GRCm39) K150* probably null Het
Eri3 A C 4: 117,472,386 (GRCm39) Y260S possibly damaging Het
Esrrg C T 1: 187,943,304 (GRCm39) L426F probably damaging Het
Farp1 G T 14: 121,474,584 (GRCm39) V266L probably damaging Het
Flnc A G 6: 29,458,897 (GRCm39) E2459G probably damaging Het
Glis1 G A 4: 107,293,074 (GRCm39) D66N probably damaging Het
Gm14129 T A 2: 148,773,446 (GRCm39) noncoding transcript Het
Gm28051 A G 12: 102,686,415 (GRCm39) *82R probably null Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gne C T 4: 44,041,843 (GRCm39) V485M probably damaging Het
Lcn10 T A 2: 25,572,841 (GRCm39) V15E probably benign Het
Mapk11 T A 15: 89,029,380 (GRCm39) probably null Het
Me3 T G 7: 89,455,876 (GRCm39) Y243D probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myo9a T C 9: 59,687,495 (GRCm39) V200A probably damaging Het
Mzf1 T A 7: 12,785,526 (GRCm39) Q161H possibly damaging Het
Nim1k T G 13: 120,189,130 (GRCm39) H93P probably damaging Het
Nkx6-1 C A 5: 101,811,532 (GRCm39) R190L probably damaging Het
Noc3l A G 19: 38,782,625 (GRCm39) V671A probably benign Het
Nsd1 T C 13: 55,460,543 (GRCm39) S2257P probably benign Het
Nup210 T A 6: 91,003,945 (GRCm39) I648F probably damaging Het
Oplah T C 15: 76,189,944 (GRCm39) E223G possibly damaging Het
Or5b120 T C 19: 13,480,556 (GRCm39) M283T probably benign Het
Plekhs1 A C 19: 56,474,224 (GRCm39) T457P probably damaging Het
Plppr4 G A 3: 117,119,551 (GRCm39) T286I probably benign Het
Prpf4b T C 13: 35,068,037 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,878 (GRCm39) D318E possibly damaging Het
Psap A G 10: 60,134,959 (GRCm39) E289G possibly damaging Het
Rad17 A G 13: 100,764,157 (GRCm39) V438A possibly damaging Het
Raf1 T C 6: 115,597,217 (GRCm39) S28G probably benign Het
Ranbp2 A G 10: 58,329,561 (GRCm39) D2978G probably benign Het
Rnf170 T A 8: 26,631,027 (GRCm39) D213E probably damaging Het
Rsph3a T A 17: 8,164,905 (GRCm39) H88Q possibly damaging Het
Scd1 A G 19: 44,395,198 (GRCm39) I9T probably benign Het
Sgk3 T C 1: 9,968,911 (GRCm39) probably benign Het
Slc14a1 C T 18: 78,145,686 (GRCm39) S416N probably benign Het
Smok4a T C 17: 13,746,474 (GRCm39) noncoding transcript Het
Sostdc1 A T 12: 36,367,165 (GRCm39) I114F probably damaging Het
Spen G A 4: 141,202,375 (GRCm39) T2084I possibly damaging Het
Spen G T 4: 141,244,149 (GRCm39) D295E unknown Het
Sptbn5 T C 2: 119,890,202 (GRCm39) probably benign Het
Srebf1 T C 11: 60,101,184 (GRCm39) probably benign Het
Tcea3 A T 4: 135,998,683 (GRCm39) Y319F probably damaging Het
Timd4 T A 11: 46,710,807 (GRCm39) probably null Het
Tmem88b G A 4: 155,870,002 (GRCm39) P20S probably damaging Het
Tsen2 T A 6: 115,538,365 (GRCm39) C281S probably damaging Het
Vmn2r28 T C 7: 5,487,011 (GRCm39) T551A possibly damaging Het
Vmn2r45 T C 7: 8,474,832 (GRCm39) H732R probably benign Het
Wdr90 A G 17: 26,063,995 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,344,836 (GRCm39) S1072P probably benign Het
Zfp148 A G 16: 33,255,004 (GRCm39) probably benign Het
Zfp2 T A 11: 50,790,851 (GRCm39) E397D probably damaging Het
Zfp729b A G 13: 67,740,499 (GRCm39) F599L 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
R1648:Myo1h UTSW 5 114,474,336 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- GGAAACCCCATGTCACCAGG -3'
(R):5'- AAATCTCAGTCAGCTTTAAAACAGG -3'

Sequencing Primer
(F):5'- TGCTGTGAACAGACACCTTG -3'
(R):5'- CAGTTCCTGGCTGCAAACTGATG -3'
Posted On 2016-10-05