Incidental Mutation 'R1939:Myo15b'
ID 213834
Institutional Source Beutler Lab
Gene Symbol Myo15b
Ensembl Gene ENSMUSG00000034427
Gene Name myosin XVB
Synonyms LOC217328, LOC380737, E330039G21Rik
MMRRC Submission 039957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1939 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115749232-115783429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115778529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1139 (T1139A)
Ref Sequence ENSEMBL: ENSMUSP00000152405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000040703] [ENSMUST00000093911] [ENSMUST00000125835] [ENSMUST00000167507] [ENSMUST00000222123] [ENSMUST00000140174]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021097
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
HELICc 274 355 8.68e-22 SMART
Pfam:RecQ_Zn_bind 366 436 1.8e-12 PFAM
low complexity region 472 499 N/A INTRINSIC
PDB:4BK0|B 516 621 2e-51 PDB
Pfam:RecQ5 626 818 3.1e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040703
SMART Domains Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427

DomainStartEndE-ValueType
low complexity region 93 111 N/A INTRINSIC
low complexity region 179 213 N/A INTRINSIC
low complexity region 250 289 N/A INTRINSIC
low complexity region 345 370 N/A INTRINSIC
low complexity region 497 511 N/A INTRINSIC
low complexity region 532 552 N/A INTRINSIC
Blast:MYSc 587 775 3e-15 BLAST
SH3 778 835 1.15e-7 SMART
Predicted Effect unknown
Transcript: ENSMUST00000093911
AA Change: T2561A
SMART Domains Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: T2561A

DomainStartEndE-ValueType
MYSc 1 640 2.4e-134 SMART
IQ 660 682 1.03e1 SMART
Pfam:MyTH4 837 945 2.1e-23 PFAM
low complexity region 1050 1068 N/A INTRINSIC
low complexity region 1136 1170 N/A INTRINSIC
low complexity region 1207 1246 N/A INTRINSIC
low complexity region 1302 1327 N/A INTRINSIC
low complexity region 1454 1468 N/A INTRINSIC
low complexity region 1489 1509 N/A INTRINSIC
SH3 1735 1792 1.15e-7 SMART
Pfam:MyTH4 1928 2029 8.3e-25 PFAM
B41 2032 2235 6.99e-4 SMART
low complexity region 2243 2253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125835
SMART Domains Protein: ENSMUSP00000144423
Gene: ENSMUSG00000034427

DomainStartEndE-ValueType
SH3 75 132 7e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136774
Predicted Effect probably benign
Transcript: ENSMUST00000167507
AA Change: T35A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427
AA Change: T35A

DomainStartEndE-ValueType
Pfam:MyTH4 100 205 3.1e-24 PFAM
B41 207 410 6.99e-4 SMART
low complexity region 418 428 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141947
Predicted Effect probably benign
Transcript: ENSMUST00000222123
AA Change: T1139A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000140174
SMART Domains Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,130 (GRCm39) W11R probably damaging Het
2700049A03Rik A G 12: 71,207,186 (GRCm39) probably null Het
4933409G03Rik T C 2: 68,419,328 (GRCm39) S26P possibly damaging Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acot3 A G 12: 84,105,325 (GRCm39) N264S probably benign Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam22 A T 5: 8,380,015 (GRCm39) F94L probably damaging Het
Adarb2 T C 13: 8,253,358 (GRCm39) probably null Het
Aldh1b1 A G 4: 45,802,755 (GRCm39) M98V possibly damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Atf2 G A 2: 73,676,563 (GRCm39) P184S probably damaging Het
Atp8b3 A T 10: 80,361,220 (GRCm39) C785* probably null Het
Birc6 T C 17: 74,977,332 (GRCm39) S4362P probably damaging Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cntnap5b A G 1: 99,895,073 (GRCm39) H115R probably benign Het
Col23a1 A G 11: 51,442,816 (GRCm39) D159G unknown Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Dnase2a G T 8: 85,637,524 (GRCm39) A309S possibly damaging Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Engase T A 11: 118,370,012 (GRCm39) N97K probably damaging Het
Fam83b A T 9: 76,400,362 (GRCm39) M247K probably damaging Het
Fer T C 17: 64,280,123 (GRCm39) S65P probably damaging Het
Fgf10 A G 13: 118,925,688 (GRCm39) R156G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm904 T C 13: 50,798,772 (GRCm39) probably null Het
Gpat2 T A 2: 127,277,879 (GRCm39) *802K probably null Het
Hcfc2 G T 10: 82,538,284 (GRCm39) R107L probably damaging Het
Itga8 T G 2: 12,305,657 (GRCm39) D111A probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lgals8 T G 13: 12,474,069 (GRCm39) I10L probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Mcpt1 A T 14: 56,256,546 (GRCm39) K94I possibly damaging Het
Mpnd T C 17: 56,322,920 (GRCm39) F384S probably damaging Het
Mrgprb5 A T 7: 47,818,686 (GRCm39) N16K probably benign Het
Nat8f5 A C 6: 85,794,801 (GRCm39) I53R possibly damaging Het
Nav1 A T 1: 135,393,636 (GRCm39) L1034Q probably damaging Het
Nudt6 T C 3: 37,459,379 (GRCm39) Y54C probably damaging Het
Or10j3b G T 1: 173,043,499 (GRCm39) A94S probably benign Het
Or5p58 A G 7: 107,694,348 (GRCm39) V143A probably benign Het
Or6c217 A C 10: 129,737,970 (GRCm39) M203R probably damaging Het
Or8b35 A G 9: 37,904,385 (GRCm39) N199S probably benign Het
Or8c15 T A 9: 38,120,725 (GRCm39) Y72* probably null Het
Osbpl8 A T 10: 111,125,672 (GRCm39) H784L probably benign Het
Osr1 T G 12: 9,629,687 (GRCm39) S187A probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pkd1l2 G T 8: 117,772,921 (GRCm39) Y1035* probably null Het
Pla2g15 A G 8: 106,889,927 (GRCm39) T400A probably damaging Het
Pms1 A C 1: 53,236,135 (GRCm39) L715R probably damaging Het
Prkd1 T C 12: 50,441,777 (GRCm39) N254S probably benign Het
Prkdc T C 16: 15,653,777 (GRCm39) V3868A possibly damaging Het
Ptprt T C 2: 161,769,560 (GRCm39) N435S probably benign Het
Purb T C 11: 6,424,943 (GRCm39) E315G unknown Het
Rap1b A T 10: 117,654,491 (GRCm39) N116K probably damaging Het
Rmc1 T C 18: 12,313,562 (GRCm39) L15P probably damaging Het
Rp1l1 A G 14: 64,267,042 (GRCm39) N876S probably benign Het
Rps6ka4 T A 19: 6,816,834 (GRCm39) I114F probably damaging Het
Semp2l1 T C 1: 32,584,627 (GRCm39) I428V probably damaging Het
Sh3bp2 A G 5: 34,708,963 (GRCm39) N19D probably damaging Het
Slc16a4 A G 3: 107,208,317 (GRCm39) M276V probably benign Het
Slc17a1 A G 13: 24,059,864 (GRCm39) T172A probably benign Het
Slc4a7 C T 14: 14,748,581 (GRCm38) A320V probably damaging Het
Slco1a6 T A 6: 142,078,956 (GRCm39) Y113F probably damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
St3gal6 A T 16: 58,293,924 (GRCm39) probably null Het
Tdp2 A G 13: 25,025,260 (GRCm39) D343G probably benign Het
Tecpr2 T A 12: 110,899,603 (GRCm39) L657Q probably damaging Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Trappc6a T A 7: 19,248,426 (GRCm39) F28I probably damaging Het
Trim32 G A 4: 65,532,303 (GRCm39) V287I probably benign Het
Trpd52l3 T C 19: 29,981,289 (GRCm39) S15P probably damaging Het
Tsnaxip1 A G 8: 106,566,670 (GRCm39) I169V probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttll11 T A 2: 35,830,765 (GRCm39) Q18L probably null Het
Ttll8 A T 15: 88,799,689 (GRCm39) I584N probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ucp3 T C 7: 100,129,871 (GRCm39) V171A probably benign Het
Vmn1r174 T A 7: 23,453,532 (GRCm39) I66N probably damaging Het
Vmn2r13 T C 5: 109,339,852 (GRCm39) D41G possibly damaging Het
Vmn2r4 T C 3: 64,305,976 (GRCm39) D393G probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp976 C A 7: 42,263,105 (GRCm39) C244F unknown Het
Zmym5 A G 14: 57,036,577 (GRCm39) V190A probably damaging Het
Other mutations in Myo15b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Myo15b APN 11 115,782,742 (GRCm39) missense possibly damaging 0.69
IGL01409:Myo15b APN 11 115,760,330 (GRCm39) nonsense probably null
IGL01539:Myo15b APN 11 115,754,299 (GRCm39) missense probably benign 0.43
IGL01895:Myo15b APN 11 115,774,324 (GRCm39) missense possibly damaging 0.77
IGL02254:Myo15b APN 11 115,777,109 (GRCm39) missense probably damaging 1.00
IGL02343:Myo15b APN 11 115,764,226 (GRCm39) unclassified probably benign
IGL02349:Myo15b APN 11 115,753,931 (GRCm39) splice site probably benign
IGL02368:Myo15b APN 11 115,767,828 (GRCm39) missense probably benign 0.13
IGL02576:Myo15b APN 11 115,780,879 (GRCm39) missense probably null 0.97
IGL02650:Myo15b APN 11 115,777,337 (GRCm39) critical splice donor site probably null
IGL02661:Myo15b APN 11 115,774,895 (GRCm39) missense probably benign 0.01
IGL02716:Myo15b APN 11 115,774,535 (GRCm39) missense probably benign 0.06
IGL02733:Myo15b APN 11 115,775,076 (GRCm39) missense probably benign 0.00
IGL02951:Myo15b APN 11 115,772,127 (GRCm39) missense probably damaging 1.00
IGL03017:Myo15b APN 11 115,778,743 (GRCm39) missense possibly damaging 0.91
IGL03029:Myo15b APN 11 115,762,469 (GRCm39) missense probably benign 0.08
ANU74:Myo15b UTSW 11 115,769,239 (GRCm39) missense probably damaging 1.00
R0092:Myo15b UTSW 11 115,753,812 (GRCm39) missense possibly damaging 0.90
R0255:Myo15b UTSW 11 115,777,109 (GRCm39) missense probably damaging 1.00
R0325:Myo15b UTSW 11 115,775,091 (GRCm39) missense probably damaging 1.00
R0614:Myo15b UTSW 11 115,773,739 (GRCm39) missense probably damaging 1.00
R0652:Myo15b UTSW 11 115,755,468 (GRCm39) missense probably benign 0.07
R0711:Myo15b UTSW 11 115,774,664 (GRCm39) missense probably damaging 1.00
R0815:Myo15b UTSW 11 115,757,162 (GRCm39) splice site probably benign
R0961:Myo15b UTSW 11 115,773,280 (GRCm39) missense probably benign 0.15
R1066:Myo15b UTSW 11 115,770,577 (GRCm39) missense probably benign 0.03
R1221:Myo15b UTSW 11 115,777,546 (GRCm39) missense possibly damaging 0.75
R1240:Myo15b UTSW 11 115,771,327 (GRCm39) missense possibly damaging 0.70
R1275:Myo15b UTSW 11 115,774,318 (GRCm39) small deletion probably benign
R1313:Myo15b UTSW 11 115,775,955 (GRCm39) missense probably damaging 1.00
R1313:Myo15b UTSW 11 115,775,955 (GRCm39) missense probably damaging 1.00
R1317:Myo15b UTSW 11 115,774,460 (GRCm39) missense probably null 0.14
R1491:Myo15b UTSW 11 115,777,683 (GRCm39) splice site probably null
R1552:Myo15b UTSW 11 115,757,461 (GRCm39) missense probably benign 0.08
R1731:Myo15b UTSW 11 115,782,386 (GRCm39) missense possibly damaging 0.57
R1800:Myo15b UTSW 11 115,771,335 (GRCm39) critical splice donor site probably null
R1843:Myo15b UTSW 11 115,760,412 (GRCm39) missense probably benign 0.04
R1888:Myo15b UTSW 11 115,777,899 (GRCm39) missense probably damaging 1.00
R1888:Myo15b UTSW 11 115,777,899 (GRCm39) missense probably damaging 1.00
R1894:Myo15b UTSW 11 115,777,899 (GRCm39) missense probably damaging 1.00
R1917:Myo15b UTSW 11 115,773,080 (GRCm39) missense possibly damaging 0.51
R1934:Myo15b UTSW 11 115,754,310 (GRCm39) missense probably benign 0.30
R1945:Myo15b UTSW 11 115,769,224 (GRCm39) missense probably damaging 1.00
R1986:Myo15b UTSW 11 115,773,701 (GRCm39) missense probably benign 0.31
R2130:Myo15b UTSW 11 115,762,469 (GRCm39) missense probably benign 0.08
R2138:Myo15b UTSW 11 115,774,633 (GRCm39) missense probably benign 0.00
R2176:Myo15b UTSW 11 115,757,398 (GRCm39) missense probably damaging 1.00
R2415:Myo15b UTSW 11 115,770,390 (GRCm39) missense probably benign 0.00
R2483:Myo15b UTSW 11 115,755,565 (GRCm39) missense probably benign 0.04
R3620:Myo15b UTSW 11 115,762,013 (GRCm39) missense possibly damaging 0.46
R3716:Myo15b UTSW 11 115,754,239 (GRCm39) missense probably benign 0.01
R4013:Myo15b UTSW 11 115,762,282 (GRCm39) nonsense probably null
R4021:Myo15b UTSW 11 115,764,331 (GRCm39) missense probably benign 0.07
R4119:Myo15b UTSW 11 115,764,318 (GRCm39) missense probably benign 0.07
R4120:Myo15b UTSW 11 115,764,318 (GRCm39) missense probably benign 0.07
R4499:Myo15b UTSW 11 115,781,778 (GRCm39) missense probably benign 0.00
R4653:Myo15b UTSW 11 115,770,813 (GRCm39) critical splice donor site probably null
R4655:Myo15b UTSW 11 115,781,523 (GRCm39) missense probably damaging 1.00
R4700:Myo15b UTSW 11 115,752,761 (GRCm39) missense possibly damaging 0.55
R4702:Myo15b UTSW 11 115,774,834 (GRCm39) missense probably benign 0.01
R4777:Myo15b UTSW 11 115,770,478 (GRCm39) missense probably damaging 0.99
R4833:Myo15b UTSW 11 115,778,428 (GRCm39) missense possibly damaging 0.51
R5083:Myo15b UTSW 11 115,757,482 (GRCm39) missense probably benign 0.01
R5121:Myo15b UTSW 11 115,776,880 (GRCm39) missense probably damaging 1.00
R5146:Myo15b UTSW 11 115,782,024 (GRCm39) missense probably benign 0.00
R5535:Myo15b UTSW 11 115,772,127 (GRCm39) missense probably damaging 1.00
R5647:Myo15b UTSW 11 115,762,337 (GRCm39) missense probably damaging 0.99
R5849:Myo15b UTSW 11 115,772,759 (GRCm39) missense probably damaging 1.00
R5882:Myo15b UTSW 11 115,760,422 (GRCm39) missense probably damaging 1.00
R5956:Myo15b UTSW 11 115,764,583 (GRCm39) missense probably benign 0.34
R6273:Myo15b UTSW 11 115,753,625 (GRCm39) missense possibly damaging 0.63
R6302:Myo15b UTSW 11 115,777,065 (GRCm39) missense possibly damaging 0.88
R6318:Myo15b UTSW 11 115,781,657 (GRCm39) missense probably damaging 1.00
R6462:Myo15b UTSW 11 115,750,268 (GRCm39) missense probably benign 0.01
R6792:Myo15b UTSW 11 115,775,923 (GRCm39) missense probably damaging 1.00
R6963:Myo15b UTSW 11 115,781,540 (GRCm39) splice site probably null
R7015:Myo15b UTSW 11 115,762,670 (GRCm39) missense
R7020:Myo15b UTSW 11 115,757,493 (GRCm39) nonsense probably null
R7096:Myo15b UTSW 11 115,782,324 (GRCm39) splice site probably null
R7219:Myo15b UTSW 11 115,767,921 (GRCm39) critical splice donor site probably null
R7400:Myo15b UTSW 11 115,750,939 (GRCm39) missense
R7413:Myo15b UTSW 11 115,768,970 (GRCm39) missense
R7483:Myo15b UTSW 11 115,749,570 (GRCm39) missense
R7523:Myo15b UTSW 11 115,781,684 (GRCm39) missense unknown
R7737:Myo15b UTSW 11 115,778,749 (GRCm39) missense unknown
R7784:Myo15b UTSW 11 115,752,166 (GRCm39) missense
R7842:Myo15b UTSW 11 115,762,321 (GRCm39) missense
R7921:Myo15b UTSW 11 115,778,004 (GRCm39) nonsense probably null
R8065:Myo15b UTSW 11 115,778,769 (GRCm39) critical splice donor site probably null
R8183:Myo15b UTSW 11 115,773,843 (GRCm39) splice site probably null
R8193:Myo15b UTSW 11 115,775,973 (GRCm39) missense probably damaging 1.00
R8237:Myo15b UTSW 11 115,767,827 (GRCm39) missense
R8430:Myo15b UTSW 11 115,773,049 (GRCm39) missense probably benign 0.02
R8482:Myo15b UTSW 11 115,774,083 (GRCm39) nonsense probably null
R8515:Myo15b UTSW 11 115,749,610 (GRCm39) missense
R8798:Myo15b UTSW 11 115,754,232 (GRCm39) missense
R8937:Myo15b UTSW 11 115,773,127 (GRCm39) missense probably benign 0.00
R8975:Myo15b UTSW 11 115,781,780 (GRCm39) missense unknown
R9045:Myo15b UTSW 11 115,783,178 (GRCm39) makesense probably null
R9117:Myo15b UTSW 11 115,778,743 (GRCm39) missense possibly damaging 0.91
R9185:Myo15b UTSW 11 115,771,255 (GRCm39) missense unknown
R9226:Myo15b UTSW 11 115,750,924 (GRCm39) missense
R9302:Myo15b UTSW 11 115,776,238 (GRCm39) missense possibly damaging 0.83
R9318:Myo15b UTSW 11 115,775,965 (GRCm39) missense probably benign 0.26
R9336:Myo15b UTSW 11 115,771,064 (GRCm39) missense
R9337:Myo15b UTSW 11 115,749,861 (GRCm39) missense
R9338:Myo15b UTSW 11 115,762,238 (GRCm39) missense
R9498:Myo15b UTSW 11 115,770,784 (GRCm39) missense
R9500:Myo15b UTSW 11 115,777,466 (GRCm39) missense probably damaging 0.98
R9602:Myo15b UTSW 11 115,769,269 (GRCm39) critical splice donor site probably null
R9642:Myo15b UTSW 11 115,772,335 (GRCm39) missense possibly damaging 0.67
X0020:Myo15b UTSW 11 115,762,625 (GRCm39) critical splice acceptor site probably null
Z1176:Myo15b UTSW 11 115,778,751 (GRCm39) missense unknown
Z1176:Myo15b UTSW 11 115,774,278 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CAGGGCCTGAGAGTGAGTATTG -3'
(R):5'- GTCTCTACTCATCTGGGTCAGC -3'

Sequencing Primer
(F):5'- CCTGAGAGTGAGTATTGGGCCTC -3'
(R):5'- ACTCATCTGGGTCAGCCTGTAG -3'
Posted On 2014-07-14