Incidental Mutation 'R4255:Myo1h'
ID 321775
Institutional Source Beutler Lab
Gene Symbol Myo1h
Ensembl Gene ENSMUSG00000066952
Gene Name myosin 1H
Synonyms 4631401O15Rik
MMRRC Submission 041068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4255 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114427314-114502637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114468198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 331 (I331T)
Ref Sequence ENSEMBL: ENSMUSP00000144110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124316] [ENSMUST00000169347] [ENSMUST00000202006]
AlphaFold Q9D6A1
Predicted Effect possibly damaging
Transcript: ENSMUST00000124316
AA Change: I331T

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: I331T

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 benign
Transcript: ENSMUST00000169347
AA Change: I347T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: I347T

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 possibly damaging
Transcript: ENSMUST00000202006
AA Change: I331T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: I331T

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 0.1086 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 93% (50/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,136,949 (GRCm39) I171V probably benign Het
Actc1 T C 2: 113,879,697 (GRCm39) N254S probably benign Het
Adgrg1 T G 8: 95,732,530 (GRCm39) probably null Het
Ankrd7 T A 6: 18,869,880 (GRCm39) probably null Het
Baz2b T C 2: 59,750,916 (GRCm39) probably benign Het
Brca2 A G 5: 150,464,634 (GRCm39) E1466G possibly damaging Het
Dagla G A 19: 10,234,316 (GRCm39) R332* probably null Het
Dnah5 T A 15: 28,438,248 (GRCm39) S3960T probably benign Het
Dnhd1 T A 7: 105,362,205 (GRCm39) L3689M probably damaging Het
Epn1 T A 7: 5,100,637 (GRCm39) L530Q probably damaging Het
Fgf17 C A 14: 70,879,162 (GRCm39) probably null Het
Fgfr4 G A 13: 55,314,064 (GRCm39) V593M probably damaging Het
Fmo4 A G 1: 162,621,895 (GRCm39) C439R probably benign Het
Fndc3b T C 3: 27,555,556 (GRCm39) K333E possibly damaging Het
Gpc6 A G 14: 118,188,553 (GRCm39) T396A probably benign Het
Igkv3-2 T A 6: 70,676,045 (GRCm39) V118D probably benign Het
Mtbp C A 15: 55,484,081 (GRCm39) S470R possibly damaging Het
Myh8 A G 11: 67,190,560 (GRCm39) D1295G probably benign Het
Myo7a T G 7: 97,721,171 (GRCm39) M1265L probably damaging Het
Or13a18 C A 7: 140,190,500 (GRCm39) Y132* probably null Het
Or2ak7 A T 11: 58,574,791 (GRCm39) I31F probably damaging Het
Or2o1 G A 11: 49,051,262 (GRCm39) W140* probably null Het
Pak1ip1 A G 13: 41,164,632 (GRCm39) probably benign Het
Pcdha11 A G 18: 37,145,843 (GRCm39) T645A probably benign Het
Peg12 A G 7: 62,113,479 (GRCm39) I206T possibly damaging Het
Pkhd1 A G 1: 20,664,158 (GRCm39) V140A probably damaging Het
Pramel29 T A 4: 143,934,054 (GRCm39) D351V possibly damaging Het
Prrc2c C A 1: 162,533,895 (GRCm39) probably benign Het
Ptprk A G 10: 28,082,241 (GRCm39) E70G probably benign Het
Rabl6 C T 2: 25,474,791 (GRCm39) E640K possibly damaging Het
Rasd2 G A 8: 75,948,538 (GRCm39) E155K probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sdf4 A G 4: 156,085,214 (GRCm39) H183R probably benign Het
Slc12a9 C T 5: 137,319,694 (GRCm39) R607H probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc4a10 A G 2: 62,112,280 (GRCm39) N657S probably benign Het
Spata31d1c C G 13: 65,183,502 (GRCm39) S348* probably null Het
Spata31d1c T C 13: 65,183,531 (GRCm39) F358L probably benign Het
Srbd1 A T 17: 86,410,350 (GRCm39) S527R possibly damaging Het
Stag3 T C 5: 138,289,143 (GRCm39) V243A probably damaging Het
Tefm A T 11: 80,031,075 (GRCm39) S54T probably damaging Het
Terf1 T C 1: 15,875,903 (GRCm39) M1T probably null Het
Thsd7b G A 1: 129,688,024 (GRCm39) S645N possibly damaging Het
Trmt13 G T 3: 116,376,337 (GRCm39) S285* probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ush2a C T 1: 188,492,040 (GRCm39) R3110* probably null Het
Vnn3 T C 10: 23,741,720 (GRCm39) Y342H probably benign 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
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 PCR Primer
(F):5'- ATGGCTGTCCTTATGGCAC -3'
(R):5'- TCACAGGCACAATATGATGATCG -3'

Sequencing Primer
(F):5'- CAGGACTTGGATGTCTCCTTAG -3'
(R):5'- CGTAAGACATTACCACTTCAATGAG -3'
Posted On 2015-06-20