Incidental Mutation 'R6243:Myo1h'
ID 505373
Institutional Source Beutler Lab
Gene Symbol Myo1h
Ensembl Gene ENSMUSG00000066952
Gene Name myosin 1H
Synonyms 4631401O15Rik
MMRRC Submission 044365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6243 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114427314-114502637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114500208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 195 (I195K)
Ref Sequence ENSEMBL: ENSMUSP00000144492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001125] [ENSMUST00000102581] [ENSMUST00000124316] [ENSMUST00000196467] [ENSMUST00000196676] [ENSMUST00000199567] [ENSMUST00000202006] [ENSMUST00000169347] [ENSMUST00000134532]
AlphaFold Q9D6A1
Predicted Effect probably benign
Transcript: ENSMUST00000001125
SMART Domains Protein: ENSMUSP00000001125
Gene: ENSMUSG00000001098

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
BTB 32 132 3.21e-19 SMART
low complexity region 287 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102581
SMART Domains Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
BTB 32 132 6.89e-19 SMART
low complexity region 286 302 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123538
Predicted Effect possibly damaging
Transcript: ENSMUST00000124316
AA Change: I931K

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: I931K

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 noncoding transcript
Transcript: ENSMUST00000125230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132646
Predicted Effect probably damaging
Transcript: ENSMUST00000196467
AA Change: I162K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
AA Change: I162K

DomainStartEndE-ValueType
Blast:MYSc 1 52 7e-10 BLAST
Pfam:Myosin_TH1 70 181 1.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196676
AA Change: I186K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
AA Change: I186K

DomainStartEndE-ValueType
Pfam:Myosin_TH1 25 204 7.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199567
AA Change: I195K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
AA Change: I195K

DomainStartEndE-ValueType
Pfam:Myosin_TH1 25 213 4.2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202006
AA Change: I995K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: I995K

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: ENSMUST00000169347
AA Change: I1011K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: I1011K

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 benign
Transcript: ENSMUST00000134532
SMART Domains Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:BTB_2 34 89 2.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197773
Meta Mutation Damage Score 0.1983 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,450,809 (GRCm39) S331P probably damaging Het
Akap9 T G 5: 4,115,000 (GRCm39) probably null Het
Ankef1 A G 2: 136,379,077 (GRCm39) E9G probably damaging Het
Ap1g2 T C 14: 55,336,530 (GRCm39) E788G probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asrgl1 A T 19: 9,093,868 (GRCm39) I220K probably damaging Het
Atg16l2 A C 7: 100,941,536 (GRCm39) *404E probably null Het
Atp4a T C 7: 30,415,382 (GRCm39) F334S possibly damaging Het
Atp6v0d1 T C 8: 106,292,495 (GRCm39) E17G probably benign Het
Bcat2 T C 7: 45,237,691 (GRCm39) V279A probably benign Het
Birc6 T G 17: 74,916,382 (GRCm39) M459R probably damaging Het
Bsn T C 9: 107,984,760 (GRCm39) Y3098C unknown Het
Btaf1 T A 19: 36,958,520 (GRCm39) M679K probably benign Het
Cirop T A 14: 54,933,216 (GRCm39) R322S probably damaging Het
Col6a4 T C 9: 105,890,589 (GRCm39) T1902A possibly damaging Het
Crhr1 G A 11: 104,064,740 (GRCm39) C364Y probably damaging Het
Crmp1 T C 5: 37,446,288 (GRCm39) L648P probably damaging Het
Cyfip1 T C 7: 55,550,277 (GRCm39) Y671H probably damaging Het
Cyp2b13 C T 7: 25,761,044 (GRCm39) P34S probably damaging Het
Dnajb6 T A 5: 29,986,131 (GRCm39) V233E probably benign Het
Dnhd1 A T 7: 105,301,216 (GRCm39) H191L probably damaging Het
Dsg3 T A 18: 20,672,781 (GRCm39) D817E probably damaging Het
Dytn T C 1: 63,686,680 (GRCm39) Q330R possibly damaging Het
Fads1 G T 19: 10,163,091 (GRCm39) E123* probably null Het
Fchsd2 T C 7: 100,921,016 (GRCm39) probably benign Het
Fmo9 T C 1: 166,494,938 (GRCm39) E270G probably benign Het
Folr1 T A 7: 101,513,172 (GRCm39) H41L probably damaging Het
Gm7298 A G 6: 121,756,096 (GRCm39) N985S possibly damaging Het
Gp1ba T C 11: 70,530,963 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Igf2bp3 A T 6: 49,084,362 (GRCm39) N285K possibly damaging Het
Lca5l G A 16: 95,980,112 (GRCm39) T6I possibly damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mpeg1 A G 19: 12,439,604 (GRCm39) H354R probably benign Het
Msh6 T A 17: 88,290,999 (GRCm39) V195E possibly damaging Het
Mtfmt C T 9: 65,351,182 (GRCm39) T243I probably benign Het
Nr1h5 T C 3: 102,856,380 (GRCm39) K300E probably benign Het
Nuak2 T C 1: 132,260,105 (GRCm39) S628P probably benign Het
Nup214 G T 2: 31,892,944 (GRCm39) A721S possibly damaging Het
Or12e13 A G 2: 87,663,385 (GRCm39) M1V probably null Het
Or5d47 A G 2: 87,804,931 (GRCm39) V26A probably benign Het
Pclo T C 5: 14,726,457 (GRCm39) probably benign Het
Phf20 A G 2: 156,065,320 (GRCm39) S12G probably benign Het
Pik3r5 T C 11: 68,382,826 (GRCm39) Y289H probably damaging Het
Pld1 T C 3: 28,149,954 (GRCm39) I717T probably damaging Het
Plxdc1 A G 11: 97,846,299 (GRCm39) Y182H probably damaging Het
Ppid A G 3: 79,510,373 (GRCm39) I354V probably benign Het
Prss2 T C 6: 41,501,387 (GRCm39) V152A probably benign Het
Rab28 C T 5: 41,793,223 (GRCm39) A141T probably benign Het
Rabgap1l C T 1: 160,472,877 (GRCm39) probably null Het
Rabl6 T G 2: 25,475,415 (GRCm39) S553R probably damaging Het
Rars1 A G 11: 35,717,374 (GRCm39) F170S possibly damaging Het
Ror2 T A 13: 53,267,116 (GRCm39) M440L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph4a A T 10: 33,785,139 (GRCm39) Q350L probably damaging Het
Serpinb2 T C 1: 107,450,869 (GRCm39) F204L probably damaging Het
Sertad4 T C 1: 192,533,257 (GRCm39) probably null Het
Shisa3 C T 5: 67,768,486 (GRCm39) P129S probably benign Het
Slc13a2 G A 11: 78,295,534 (GRCm39) L111F probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Stab2 T A 10: 86,743,025 (GRCm39) R1195W probably damaging Het
Syna C A 5: 134,588,968 (GRCm39) probably benign Het
Thada A T 17: 84,744,030 (GRCm39) D759E probably benign Het
Thoc5 A G 11: 4,869,753 (GRCm39) Y385C possibly damaging Het
Thsd7a C T 6: 12,327,601 (GRCm39) D1424N probably damaging Het
Thsd7b A T 1: 130,090,599 (GRCm39) Q1204L probably benign Het
Tnfrsf8 T C 4: 145,029,671 (GRCm39) N43S possibly damaging Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ugt2a2 T G 5: 87,610,818 (GRCm39) K339N probably benign Het
Vmn2r8 T C 5: 108,947,211 (GRCm39) T514A probably benign Het
Wrn A T 8: 33,774,682 (GRCm39) M652K possibly damaging Het
Yme1l1 A T 2: 23,083,184 (GRCm39) Y550F probably benign Het
Zfp995 G A 17: 22,099,269 (GRCm39) P322S 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
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
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'- AGGCTGCTCTTATAAATGCATCTG -3'
(R):5'- TTTCAGAATACCAGTTGGGCC -3'

Sequencing Primer
(F):5'- TCGGACTGACTTGAGACCAC -3'
(R):5'- CAGTTGGGCCCGGCTAG -3'
Posted On 2018-02-28