Incidental Mutation 'R7222:Myo1h'
ID 561874
Institutional Source Beutler Lab
Gene Symbol Myo1h
Ensembl Gene ENSMUSG00000066952
Gene Name myosin 1H
Synonyms 4631401O15Rik
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114427314-114502637 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 114493322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124316] [ENSMUST00000169347] [ENSMUST00000196467] [ENSMUST00000196676] [ENSMUST00000199567] [ENSMUST00000202006]
AlphaFold Q9D6A1
Predicted Effect probably null
Transcript: ENSMUST00000124316
SMART Domains Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952

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
SMART Domains Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952

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: ENSMUST00000196467
SMART Domains Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952

DomainStartEndE-ValueType
Blast:MYSc 1 52 7e-10 BLAST
Pfam:Myosin_TH1 70 181 1.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196676
SMART Domains Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952

DomainStartEndE-ValueType
Pfam:Myosin_TH1 25 204 7.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199567
SMART Domains Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952

DomainStartEndE-ValueType
Pfam:Myosin_TH1 25 213 4.2e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000202006
SMART Domains Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952

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 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L 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
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
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'- GAATGGTTACACTGCAGGCTC -3'
(R):5'- CTCCAAAGGAGTTAAGTGATGTG -3'

Sequencing Primer
(F):5'- TCTGGAGGCCCGCACTC -3'
(R):5'- AGGAAAGTGCTTCACTCTGC -3'
Posted On 2019-06-26