Incidental Mutation 'R8984:Myom3'
ID 683873
Institutional Source Beutler Lab
Gene Symbol Myom3
Ensembl Gene ENSMUSG00000037139
Gene Name myomesin family, member 3
Synonyms 8430427K15Rik
MMRRC Submission 068817-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R8984 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 135487026-135542875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135515255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 716 (N716K)
Ref Sequence ENSEMBL: ENSMUSP00000101480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105854]
AlphaFold A2ABU4
Predicted Effect
SMART Domains Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: N716K

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
low complexity region 53 83 N/A INTRINSIC
coiled coil region 119 150 N/A INTRINSIC
IG 160 248 7.64e-9 SMART
IG 277 364 1.37e-1 SMART
FN3 374 457 4.8e-13 SMART
FN3 502 585 9.99e-11 SMART
FN3 603 684 1.74e-10 SMART
FN3 702 785 2.5e-11 SMART
FN3 804 887 7.73e-17 SMART
Blast:IG_like 904 1098 1e-100 BLAST
PDB:2JTD|A 1000 1105 4e-25 PDB
low complexity region 1107 1119 N/A INTRINSIC
IG 1127 1209 4.46e-1 SMART
IGc2 1349 1416 1.4e-7 SMART
Meta Mutation Damage Score 0.1448 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T A 9: 122,180,880 (GRCm39) V10E probably benign Het
Adss2 A T 1: 177,601,280 (GRCm39) probably benign Het
AI467606 A T 7: 126,691,673 (GRCm39) I83F probably damaging Het
Atn1 A T 6: 124,723,923 (GRCm39) W437R unknown Het
Atxn7l2 T C 3: 108,116,290 (GRCm39) probably benign Het
AU040320 T C 4: 126,734,936 (GRCm39) F750S possibly damaging Het
B3gnt6 A G 7: 97,842,821 (GRCm39) S380P probably benign Het
Bod1l T C 5: 41,946,215 (GRCm39) Q3020R probably damaging Het
Borcs6 A T 11: 68,950,828 (GRCm39) I69F probably benign Het
Brd7 T A 8: 89,081,340 (GRCm39) M170L probably benign Het
Ccdc191 T A 16: 43,710,581 (GRCm39) probably benign Het
Cit C T 5: 116,064,534 (GRCm39) T472I possibly damaging Het
Ddx25 G T 9: 35,468,685 (GRCm39) D57E probably benign Het
Dnah7a A T 1: 53,674,436 (GRCm39) L447* probably null Het
Epb41l3 A G 17: 69,554,641 (GRCm39) D247G probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etaa1 A T 11: 17,890,254 (GRCm39) V869E probably damaging Het
Exoc8 T A 8: 125,622,769 (GRCm39) I533F probably benign Het
Fam117a A G 11: 95,254,823 (GRCm39) probably null Het
Fam222a C T 5: 114,749,092 (GRCm39) T96I possibly damaging Het
Farsa C T 8: 85,594,228 (GRCm39) T326I probably damaging Het
Fkbp1b T A 12: 4,891,401 (GRCm39) D12V probably damaging Het
Garin3 C A 11: 46,295,695 (GRCm39) Y22* probably null Het
Gc C T 5: 89,589,421 (GRCm39) probably null Het
Git2 T C 5: 114,868,256 (GRCm39) E705G probably damaging Het
Gm10318 G A 10: 77,689,078 (GRCm39) C128Y unknown Het
H3c3 C A 13: 23,929,393 (GRCm39) A30S probably benign Het
Hcar2 G A 5: 124,002,571 (GRCm39) R311* probably null Het
Hira A G 16: 18,746,261 (GRCm39) Q468R possibly damaging Het
Hspa1l T C 17: 35,197,092 (GRCm39) V377A probably damaging Het
Igkv2-137 T A 6: 67,532,659 (GRCm39) W14R probably damaging Het
Itga3 A T 11: 94,953,391 (GRCm39) L317Q probably damaging Het
Jade2 A C 11: 51,715,906 (GRCm39) L433W probably damaging Het
Kif21a T C 15: 90,840,559 (GRCm39) T1186A probably benign Het
Krtap28-10 C A 1: 83,019,894 (GRCm39) C82F unknown Het
Ksr1 G A 11: 78,931,709 (GRCm39) T333M probably damaging Het
Msi1 T C 5: 115,573,598 (GRCm39) F132S probably damaging Het
Myo7b C A 18: 32,099,402 (GRCm39) K1673N probably null Het
Ndst4 G A 3: 125,515,810 (GRCm39) G312R probably damaging Het
Ndufaf2 A G 13: 108,189,316 (GRCm39) V144A probably benign Het
Omd T C 13: 49,743,576 (GRCm39) S209P possibly damaging Het
Or2n1c A G 17: 38,519,304 (GRCm39) H56R probably damaging Het
Or2t47 G C 11: 58,442,209 (GRCm39) N285K probably damaging Het
Or51b17 G A 7: 103,542,816 (GRCm39) T42I probably benign Het
Or51e1 T A 7: 102,359,219 (GRCm39) I251N possibly damaging Het
Or52a24 T C 7: 103,381,220 (GRCm39) I29T probably damaging Het
Or52e3 T C 7: 102,869,393 (GRCm39) L156P possibly damaging Het
Patl1 T A 19: 11,898,760 (GRCm39) Y152N probably damaging Het
Plaur T A 7: 24,164,577 (GRCm39) M27K probably benign Het
Ppfia2 T A 10: 106,694,439 (GRCm39) probably benign Het
Ppfia3 A G 7: 44,990,100 (GRCm39) V1142A probably damaging Het
Psg28 T A 7: 18,156,981 (GRCm39) N418I probably damaging Het
Ptprd A T 4: 75,863,251 (GRCm39) F1237I probably damaging Het
Ptprj G A 2: 90,270,987 (GRCm39) P1247L probably damaging Het
Rbms3 A T 9: 116,524,886 (GRCm39) probably null Het
Rgs18 A G 1: 144,629,566 (GRCm39) V231A probably benign Het
Rnf112 T C 11: 61,343,277 (GRCm39) R156G possibly damaging Het
Rsad1 A C 11: 94,439,010 (GRCm39) V150G probably damaging Het
Rxrg G A 1: 167,462,005 (GRCm39) V350I possibly damaging Het
Sash1 A G 10: 8,626,808 (GRCm39) I192T possibly damaging Het
Slc25a36 G A 9: 96,961,259 (GRCm39) T259I probably benign Het
Smarcd3 T A 5: 24,798,986 (GRCm39) E324V probably null Het
St3gal4 A G 9: 34,966,944 (GRCm39) V2A possibly damaging Het
Stk17b A C 1: 53,796,784 (GRCm39) S328A probably benign Het
Tbrg1 A G 9: 37,563,949 (GRCm39) Y229H probably damaging Het
Tdg A G 10: 82,484,514 (GRCm39) N409S probably benign Het
Terb1 T C 8: 105,212,036 (GRCm39) E315G possibly damaging Het
Tmem131 A G 1: 36,867,228 (GRCm39) F402L probably benign Het
Trav4-2 T C 14: 53,656,190 (GRCm39) I64T probably benign Het
Trav4-4-dv10 A G 14: 53,921,574 (GRCm39) T91A probably benign Het
Xdh C T 17: 74,228,346 (GRCm39) G352R probably damaging Het
Zfp551 C A 7: 12,156,559 (GRCm39) probably benign Het
Other mutations in Myom3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Myom3 APN 4 135,489,882 (GRCm39) missense possibly damaging 0.66
IGL01490:Myom3 APN 4 135,538,089 (GRCm39) missense possibly damaging 0.79
IGL01931:Myom3 APN 4 135,516,950 (GRCm39) missense probably benign 0.05
IGL01935:Myom3 APN 4 135,515,692 (GRCm39) missense probably damaging 1.00
IGL01939:Myom3 APN 4 135,492,900 (GRCm39) missense possibly damaging 0.95
IGL01981:Myom3 APN 4 135,513,160 (GRCm39) nonsense probably null
IGL01985:Myom3 APN 4 135,493,013 (GRCm39) critical splice donor site probably null
IGL02043:Myom3 APN 4 135,497,986 (GRCm39) missense probably damaging 1.00
IGL02477:Myom3 APN 4 135,506,679 (GRCm39) missense probably benign 0.22
IGL02733:Myom3 APN 4 135,541,614 (GRCm39) nonsense probably null
IGL03253:Myom3 APN 4 135,510,408 (GRCm39) missense possibly damaging 0.85
BB008:Myom3 UTSW 4 135,516,947 (GRCm39) missense probably benign
BB018:Myom3 UTSW 4 135,516,947 (GRCm39) missense probably benign
R0359:Myom3 UTSW 4 135,505,454 (GRCm39) missense probably damaging 1.00
R0525:Myom3 UTSW 4 135,492,237 (GRCm39) missense possibly damaging 0.69
R0665:Myom3 UTSW 4 135,492,237 (GRCm39) missense possibly damaging 0.69
R0668:Myom3 UTSW 4 135,492,237 (GRCm39) missense possibly damaging 0.69
R0690:Myom3 UTSW 4 135,515,737 (GRCm39) splice site probably benign
R1235:Myom3 UTSW 4 135,516,854 (GRCm39) missense probably benign 0.09
R1692:Myom3 UTSW 4 135,502,862 (GRCm39) missense probably benign 0.00
R1793:Myom3 UTSW 4 135,538,066 (GRCm39) missense probably benign 0.42
R1859:Myom3 UTSW 4 135,506,707 (GRCm39) missense probably benign 0.01
R1863:Myom3 UTSW 4 135,505,348 (GRCm39) missense probably benign
R1876:Myom3 UTSW 4 135,506,711 (GRCm39) missense probably benign 0.01
R2103:Myom3 UTSW 4 135,503,723 (GRCm39) missense probably benign 0.05
R2152:Myom3 UTSW 4 135,530,544 (GRCm39) missense probably benign 0.05
R4633:Myom3 UTSW 4 135,503,010 (GRCm39) missense probably benign 0.00
R4726:Myom3 UTSW 4 135,534,586 (GRCm39) splice site probably null
R4884:Myom3 UTSW 4 135,510,366 (GRCm39) missense possibly damaging 0.90
R4943:Myom3 UTSW 4 135,541,585 (GRCm39) missense possibly damaging 0.73
R5040:Myom3 UTSW 4 135,516,970 (GRCm39) missense probably damaging 1.00
R5151:Myom3 UTSW 4 135,516,883 (GRCm39) missense probably benign 0.01
R5158:Myom3 UTSW 4 135,492,897 (GRCm39) missense probably damaging 0.99
R5169:Myom3 UTSW 4 135,502,889 (GRCm39) missense probably benign 0.01
R5239:Myom3 UTSW 4 135,528,303 (GRCm39) splice site probably benign
R6130:Myom3 UTSW 4 135,489,882 (GRCm39) missense probably benign
R6253:Myom3 UTSW 4 135,528,314 (GRCm39) missense probably benign 0.00
R6253:Myom3 UTSW 4 135,513,203 (GRCm39) missense probably benign 0.07
R6331:Myom3 UTSW 4 135,503,688 (GRCm39) missense possibly damaging 0.46
R6346:Myom3 UTSW 4 135,533,362 (GRCm39) missense probably benign 0.00
R6502:Myom3 UTSW 4 135,489,824 (GRCm39) start gained probably benign
R6613:Myom3 UTSW 4 135,539,770 (GRCm39) missense possibly damaging 0.80
R6899:Myom3 UTSW 4 135,530,603 (GRCm39) missense probably damaging 1.00
R6969:Myom3 UTSW 4 135,528,371 (GRCm39) missense probably damaging 0.98
R7088:Myom3 UTSW 4 135,530,589 (GRCm39) missense probably damaging 1.00
R7159:Myom3 UTSW 4 135,536,162 (GRCm39) missense probably damaging 1.00
R7203:Myom3 UTSW 4 135,522,490 (GRCm39) missense possibly damaging 0.92
R7397:Myom3 UTSW 4 135,510,429 (GRCm39) missense probably damaging 0.98
R7453:Myom3 UTSW 4 135,528,346 (GRCm39) missense probably damaging 1.00
R7815:Myom3 UTSW 4 135,528,674 (GRCm39) missense possibly damaging 0.67
R7931:Myom3 UTSW 4 135,516,947 (GRCm39) missense probably benign
R7939:Myom3 UTSW 4 135,534,589 (GRCm39) critical splice donor site probably null
R8024:Myom3 UTSW 4 135,529,059 (GRCm39) missense probably benign 0.02
R8167:Myom3 UTSW 4 135,534,504 (GRCm39) missense possibly damaging 0.48
R8188:Myom3 UTSW 4 135,507,231 (GRCm39) missense probably damaging 1.00
R8709:Myom3 UTSW 4 135,523,607 (GRCm39) missense possibly damaging 0.81
R8745:Myom3 UTSW 4 135,522,509 (GRCm39) critical splice donor site probably null
R8890:Myom3 UTSW 4 135,541,565 (GRCm39) missense probably benign 0.30
R8922:Myom3 UTSW 4 135,492,222 (GRCm39) missense probably damaging 1.00
R9090:Myom3 UTSW 4 135,505,479 (GRCm39) missense probably benign 0.00
R9178:Myom3 UTSW 4 135,506,710 (GRCm39) missense probably benign 0.00
R9235:Myom3 UTSW 4 135,541,653 (GRCm39) missense probably damaging 1.00
R9271:Myom3 UTSW 4 135,505,479 (GRCm39) missense probably benign 0.00
R9396:Myom3 UTSW 4 135,513,199 (GRCm39) missense probably benign 0.01
Z1176:Myom3 UTSW 4 135,492,131 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTCTGGCTCAGAGAAGACTCC -3'
(R):5'- GAGCTTCCAATATGGCTGTTC -3'

Sequencing Primer
(F):5'- TCTGGCTCAGAGAAGACTCCTAGATC -3'
(R):5'- CACTGGGTGGCAGAGCTTG -3'
Posted On 2021-10-11