Incidental Mutation 'R6253:Myom3'
ID 506317
Institutional Source Beutler Lab
Gene Symbol Myom3
Ensembl Gene ENSMUSG00000037139
Gene Name myomesin family, member 3
Synonyms 8430427K15Rik
MMRRC Submission 044370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 135487026-135542875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135513203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 627 (D627V)
Ref Sequence ENSEMBL: ENSMUSP00000101480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105854]
AlphaFold A2ABU4
Predicted Effect probably benign
Transcript: ENSMUST00000105854
AA Change: D627V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: D627V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,528,929 (GRCm39) Y151H possibly damaging Het
Aasdh A G 5: 77,034,105 (GRCm39) I482T possibly damaging Het
Abca3 G A 17: 24,616,526 (GRCm39) M989I probably benign Het
Acvr2b C T 9: 119,257,627 (GRCm39) P220L probably damaging Het
Aqr T C 2: 113,986,758 (GRCm39) D204G possibly damaging Het
Arpp19 G T 9: 74,964,016 (GRCm39) D123Y probably damaging Het
Bod1l A G 5: 41,983,881 (GRCm39) I554T probably damaging Het
Bpifa5 A G 2: 154,005,420 (GRCm39) M1V probably null Het
Cdh3 T A 8: 107,263,695 (GRCm39) probably null Het
Cep170 A T 1: 176,607,960 (GRCm39) D165E possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Cog3 A G 14: 75,957,152 (GRCm39) L627P probably damaging Het
Col23a1 C T 11: 51,464,995 (GRCm39) L453F probably damaging Het
Cyp2a22 T A 7: 26,633,657 (GRCm39) Q351L probably benign Het
Ddx4 T G 13: 112,772,557 (GRCm39) K77N probably benign Het
Ddx4 C A 13: 112,772,556 (GRCm39) E78* probably null Het
Decr1 A T 4: 15,931,179 (GRCm39) N92K probably benign Het
Dnm2 T C 9: 21,411,571 (GRCm39) L600P probably damaging Het
Ece2 A C 16: 20,457,932 (GRCm39) N356H probably damaging Het
Ern1 A T 11: 106,317,734 (GRCm39) I130N possibly damaging Het
Fat2 G A 11: 55,187,097 (GRCm39) R1250C probably damaging Het
Fat4 T A 3: 39,005,505 (GRCm39) V1968D probably damaging Het
Frmd6 A G 12: 70,923,987 (GRCm39) K82E probably damaging Het
Gm5431 A G 11: 48,785,826 (GRCm39) V183A probably benign Het
Golgb1 T C 16: 36,735,984 (GRCm39) S1744P possibly damaging Het
Hnrnpa3 C G 2: 75,492,914 (GRCm39) Q213E possibly damaging Het
Hspa1a A G 17: 35,189,526 (GRCm39) F459S probably damaging Het
Ice1 A G 13: 70,751,283 (GRCm39) L1601P probably damaging Het
Igkv19-93 T A 6: 68,713,323 (GRCm39) D102V probably damaging Het
Kansl1 G A 11: 104,248,352 (GRCm39) T534I probably benign Het
Lpin2 T A 17: 71,538,264 (GRCm39) S303R probably damaging Het
Lrpprc T A 17: 85,048,065 (GRCm39) I845F probably benign Het
Mdn1 A G 4: 32,749,593 (GRCm39) T4259A probably benign Het
Mtcl2 T C 2: 156,863,339 (GRCm39) S1197G probably benign Het
Mtss1 A G 15: 58,815,568 (GRCm39) I664T probably benign Het
Myh8 A G 11: 67,192,793 (GRCm39) E1528G probably benign Het
Myo5c A T 9: 75,152,319 (GRCm39) E69V probably damaging Het
Or10a4 G A 7: 106,697,464 (GRCm39) R264H possibly damaging Het
Or2d2b A T 7: 106,705,145 (GRCm39) S308T probably benign Het
Or6z3 T C 7: 6,463,547 (GRCm39) V13A probably benign Het
Phactr1 T A 13: 43,248,247 (GRCm39) S399T probably benign Het
Plch2 T A 4: 155,091,558 (GRCm39) Y84F probably damaging Het
Ppp1r13b A G 12: 111,802,160 (GRCm39) S278P probably benign Het
Prol1 A G 5: 88,475,736 (GRCm39) Y42C probably damaging Het
Pum2 A G 12: 8,798,205 (GRCm39) E906G probably damaging Het
Pwwp3a T A 10: 80,068,848 (GRCm39) C331S probably benign Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rbp4 G A 19: 38,113,428 (GRCm39) T30M probably benign Het
Selenbp1 T C 3: 94,851,157 (GRCm39) L351P possibly damaging Het
Serpinb6b T C 13: 33,156,255 (GRCm39) F115S probably damaging Het
Tigd3 A T 19: 5,942,870 (GRCm39) Y87N probably damaging Het
Tigd5 T A 15: 75,782,871 (GRCm39) L411H probably damaging Het
Ttc3 T C 16: 94,258,272 (GRCm39) probably null Het
Uhmk1 T C 1: 170,027,449 (GRCm39) Q416R probably damaging Het
Zfand4 T C 6: 116,250,575 (GRCm39) F2L probably damaging Het
Zfhx3 C T 8: 109,682,020 (GRCm39) T3153M possibly damaging Het
Zfp697 T G 3: 98,334,855 (GRCm39) C207G possibly damaging Het
Zfp935 T C 13: 62,602,685 (GRCm39) T172A probably benign Het
Znrf3 G T 11: 5,230,865 (GRCm39) L883I 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
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
R8984:Myom3 UTSW 4 135,515,255 (GRCm39) missense
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'- TGCCTCGACTGCTGTGAAAG -3'
(R):5'- AGCTAGCCTGGTGTACACAG -3'

Sequencing Primer
(F):5'- CGACTGCTGTGAAAGTCCTC -3'
(R):5'- GGACCGACATTAAAGGTTGTCCTC -3'
Posted On 2018-03-15