Incidental Mutation 'R9494:Myo1d'
ID 717113
Institutional Source Beutler Lab
Gene Symbol Myo1d
Ensembl Gene ENSMUSG00000035441
Gene Name myosin ID
Synonyms D11Ertd9e, 9930104H07Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 80372952-80670851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80375093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 994 (K994E)
Ref Sequence ENSEMBL: ENSMUSP00000037819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041065] [ENSMUST00000053413]
AlphaFold Q5SYD0
Predicted Effect probably benign
Transcript: ENSMUST00000041065
AA Change: K994E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: K994E

DomainStartEndE-ValueType
MYSc 3 696 N/A SMART
IQ 697 719 1.46e-3 SMART
Pfam:Myosin_TH1 803 1006 4.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053413
SMART Domains Protein: ENSMUSP00000099514
Gene: ENSMUSG00000048895

DomainStartEndE-ValueType
Pfam:CDK5_activator 69 294 1.6e-100 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 T C 1: 59,206,664 (GRCm39) D1593G probably damaging Het
Atad2b C A 12: 5,081,852 (GRCm39) P1254T probably benign Het
Brsk2 C T 7: 141,555,955 (GRCm39) R716C possibly damaging Het
Bzw2 T A 12: 36,184,947 (GRCm39) M1L probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Col6a5 A T 9: 105,822,732 (GRCm39) D208E unknown Het
Cul3 T A 1: 80,255,169 (GRCm39) S544C probably damaging Het
Enpp1 C A 10: 24,527,234 (GRCm39) R651L probably benign Het
Epha10 C T 4: 124,808,649 (GRCm39) A766V Het
Epor A G 9: 21,870,522 (GRCm39) Y453H probably damaging Het
Fam13a T C 6: 58,930,508 (GRCm39) K468R probably benign Het
Ffar4 C T 19: 38,086,083 (GRCm39) A170V probably benign Het
Fhip1a A T 3: 85,583,565 (GRCm39) Y410* probably null Het
Gm10203 A G 6: 149,031,740 (GRCm39) Y15C unknown Het
Kansl1 T C 11: 104,247,566 (GRCm39) T595A probably benign Het
Lmtk2 A T 5: 144,037,338 (GRCm39) probably benign Het
Mybl2 G A 2: 162,917,843 (GRCm39) V69I possibly damaging Het
Or5p75-ps1 C A 7: 108,107,800 (GRCm39) T179K unknown Het
Pcdhga10 A T 18: 37,882,421 (GRCm39) R727S probably benign Het
Pgp T A 17: 24,689,809 (GRCm39) L109Q probably damaging Het
Piwil2 C T 14: 70,660,421 (GRCm39) G68D probably benign Het
Pms2 T A 5: 143,853,214 (GRCm39) I193N probably damaging Het
Pnpla7 T A 2: 24,942,390 (GRCm39) L1236* probably null Het
Pole2 A G 12: 69,249,731 (GRCm39) V489A possibly damaging Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rnf32 T C 5: 29,429,145 (GRCm39) S241P probably damaging Het
Samd9l T A 6: 3,375,830 (GRCm39) K477I possibly damaging Het
Stn1 C T 19: 47,513,125 (GRCm39) probably null Het
Svep1 A G 4: 58,070,577 (GRCm39) V2403A possibly damaging Het
Synrg T C 11: 83,881,747 (GRCm39) M361T probably benign Het
Tbc1d2b A T 9: 90,152,563 (GRCm39) Y68N probably damaging Het
Tbc1d4 A T 14: 101,845,895 (GRCm39) M1K probably null Het
Thsd1 C T 8: 22,733,268 (GRCm39) P105L probably benign Het
Tnxb T C 17: 34,904,796 (GRCm39) L1187P probably damaging Het
Trio T C 15: 27,846,843 (GRCm39) T1057A probably benign Het
Tubg1 T C 11: 101,011,724 (GRCm39) I77T probably damaging Het
Txndc11 A G 16: 10,952,156 (GRCm39) L73P probably damaging Het
Uck1 G A 2: 32,148,179 (GRCm39) R182* probably null Het
Vangl1 T C 3: 102,070,665 (GRCm39) S424G probably damaging Het
Vmn2r69 A G 7: 85,056,084 (GRCm39) W685R probably benign Het
Vmn2r69 G A 7: 85,060,768 (GRCm39) S272L probably damaging Het
Zbtb18 A T 1: 177,275,648 (GRCm39) D327V probably benign Het
Zfp607b T C 7: 27,403,092 (GRCm39) F516S probably damaging Het
Zzz3 A G 3: 152,133,468 (GRCm39) I175M possibly damaging Het
Other mutations in Myo1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Myo1d APN 11 80,492,566 (GRCm39) missense probably benign
IGL01087:Myo1d APN 11 80,573,261 (GRCm39) missense probably damaging 1.00
IGL01326:Myo1d APN 11 80,575,147 (GRCm39) splice site probably benign
IGL01431:Myo1d APN 11 80,565,665 (GRCm39) missense probably damaging 1.00
IGL01595:Myo1d APN 11 80,566,936 (GRCm39) missense probably benign 0.00
IGL01811:Myo1d APN 11 80,583,823 (GRCm39) missense probably damaging 0.96
IGL02301:Myo1d APN 11 80,567,679 (GRCm39) missense probably benign 0.23
IGL02388:Myo1d APN 11 80,528,823 (GRCm39) nonsense probably null
IGL02485:Myo1d APN 11 80,557,407 (GRCm39) missense probably damaging 1.00
IGL03017:Myo1d APN 11 80,492,452 (GRCm39) missense probably benign 0.26
horton UTSW 11 80,565,534 (GRCm39) missense probably damaging 1.00
multifaceted UTSW 11 80,583,898 (GRCm39) missense probably damaging 1.00
whisper UTSW 11 80,375,158 (GRCm39) missense probably damaging 0.99
whisper2 UTSW 11 80,557,404 (GRCm39) missense probably damaging 1.00
whisper3 UTSW 11 80,448,347 (GRCm39) missense probably damaging 1.00
R0069:Myo1d UTSW 11 80,528,779 (GRCm39) missense probably damaging 1.00
R0069:Myo1d UTSW 11 80,528,779 (GRCm39) missense probably damaging 1.00
R0081:Myo1d UTSW 11 80,448,349 (GRCm39) missense probably benign 0.00
R0096:Myo1d UTSW 11 80,375,158 (GRCm39) missense probably damaging 0.99
R0096:Myo1d UTSW 11 80,375,158 (GRCm39) missense probably damaging 0.99
R0244:Myo1d UTSW 11 80,565,534 (GRCm39) missense probably damaging 1.00
R0711:Myo1d UTSW 11 80,375,158 (GRCm39) missense probably damaging 0.99
R0746:Myo1d UTSW 11 80,477,705 (GRCm39) missense possibly damaging 0.94
R1084:Myo1d UTSW 11 80,575,221 (GRCm39) missense probably damaging 1.00
R1514:Myo1d UTSW 11 80,576,734 (GRCm39) missense probably damaging 0.97
R1676:Myo1d UTSW 11 80,575,247 (GRCm39) missense probably damaging 1.00
R1862:Myo1d UTSW 11 80,553,874 (GRCm39) missense probably damaging 1.00
R2497:Myo1d UTSW 11 80,565,647 (GRCm39) missense probably damaging 1.00
R2512:Myo1d UTSW 11 80,670,543 (GRCm39) missense probably benign 0.00
R3425:Myo1d UTSW 11 80,492,464 (GRCm39) missense probably benign
R3429:Myo1d UTSW 11 80,573,236 (GRCm39) missense probably damaging 1.00
R3917:Myo1d UTSW 11 80,557,404 (GRCm39) missense probably damaging 1.00
R3928:Myo1d UTSW 11 80,375,087 (GRCm39) missense probably benign 0.09
R4706:Myo1d UTSW 11 80,557,467 (GRCm39) missense probably damaging 0.96
R4723:Myo1d UTSW 11 80,670,667 (GRCm39) utr 5 prime probably benign
R4924:Myo1d UTSW 11 80,565,504 (GRCm39) missense probably damaging 1.00
R5042:Myo1d UTSW 11 80,448,347 (GRCm39) missense probably damaging 1.00
R5320:Myo1d UTSW 11 80,575,149 (GRCm39) critical splice donor site probably null
R5481:Myo1d UTSW 11 80,553,921 (GRCm39) missense possibly damaging 0.79
R6214:Myo1d UTSW 11 80,670,617 (GRCm39) start codon destroyed probably null 0.98
R6235:Myo1d UTSW 11 80,583,770 (GRCm39) missense probably benign 0.23
R6282:Myo1d UTSW 11 80,448,338 (GRCm39) missense probably damaging 0.99
R6468:Myo1d UTSW 11 80,448,300 (GRCm39) missense probably benign 0.00
R6668:Myo1d UTSW 11 80,474,701 (GRCm39) intron probably benign
R6954:Myo1d UTSW 11 80,565,783 (GRCm39) missense probably benign 0.21
R7077:Myo1d UTSW 11 80,565,460 (GRCm39) missense probably damaging 1.00
R7078:Myo1d UTSW 11 80,565,460 (GRCm39) missense probably damaging 1.00
R7080:Myo1d UTSW 11 80,565,460 (GRCm39) missense probably damaging 1.00
R7172:Myo1d UTSW 11 80,483,621 (GRCm39) missense probably benign 0.16
R7276:Myo1d UTSW 11 80,583,898 (GRCm39) missense probably damaging 1.00
R7467:Myo1d UTSW 11 80,477,743 (GRCm39) missense probably damaging 1.00
R7650:Myo1d UTSW 11 80,492,510 (GRCm39) missense probably benign
R7678:Myo1d UTSW 11 80,567,719 (GRCm39) missense possibly damaging 0.80
R7859:Myo1d UTSW 11 80,575,203 (GRCm39) missense probably damaging 1.00
R8324:Myo1d UTSW 11 80,448,347 (GRCm39) missense probably damaging 1.00
R8329:Myo1d UTSW 11 80,528,900 (GRCm39) missense probably benign 0.21
R8474:Myo1d UTSW 11 80,561,745 (GRCm39) missense possibly damaging 0.93
R8799:Myo1d UTSW 11 80,575,205 (GRCm39) missense probably damaging 1.00
R8810:Myo1d UTSW 11 80,567,758 (GRCm39) missense probably benign 0.30
R8810:Myo1d UTSW 11 80,565,758 (GRCm39) missense probably damaging 1.00
R8823:Myo1d UTSW 11 80,492,571 (GRCm39) missense possibly damaging 0.91
R9221:Myo1d UTSW 11 80,565,744 (GRCm39) missense probably damaging 1.00
R9625:Myo1d UTSW 11 80,448,296 (GRCm39) missense possibly damaging 0.95
R9626:Myo1d UTSW 11 80,448,296 (GRCm39) missense possibly damaging 0.95
R9628:Myo1d UTSW 11 80,448,296 (GRCm39) missense possibly damaging 0.95
Z1088:Myo1d UTSW 11 80,565,724 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTACAAGCTGATTTCTAGTGGC -3'
(R):5'- GTTGCCAAGGAAACCACAGC -3'

Sequencing Primer
(F):5'- CAAGCTGATTTCTAGTGGCATTAGAG -3'
(R):5'- ACAGCACTGTGTCTGCC -3'
Posted On 2022-07-18