Incidental Mutation 'R1731:Myo15b'
ID 199334
Institutional Source Beutler Lab
Gene Symbol Myo15b
Ensembl Gene ENSMUSG00000034427
Gene Name myosin XVB
Synonyms LOC217328, LOC380737, E330039G21Rik
MMRRC Submission 039763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1731 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115749232-115783429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115782386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 372 (I372T)
Ref Sequence ENSEMBL: ENSMUSP00000129226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000040703] [ENSMUST00000093911] [ENSMUST00000125835] [ENSMUST00000131578] [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: I2894T
SMART Domains Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: I2894T

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 probably benign
Transcript: ENSMUST00000131578
SMART Domains Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
HELICc 1 82 8.68e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132447
Predicted Effect possibly damaging
Transcript: ENSMUST00000167507
AA Change: I372T

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427
AA Change: I372T

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: ENSMUST00000136774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144824
Predicted Effect probably benign
Transcript: ENSMUST00000222123
AA Change: I1472T

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
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: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,762,805 (GRCm39) Y140F probably damaging Het
Adgrl4 T G 3: 151,246,623 (GRCm39) I641S possibly damaging Het
Aqp9 A G 9: 71,030,250 (GRCm39) I205T possibly damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf2 C T 2: 73,675,853 (GRCm39) G123E probably damaging Het
Baz1a T C 12: 54,965,330 (GRCm39) D708G possibly damaging Het
Calcrl A G 2: 84,175,512 (GRCm39) probably null Het
Capzb T A 4: 139,007,341 (GRCm39) W110R probably damaging Het
Casp8ap2 A T 4: 32,641,442 (GRCm39) N832I possibly damaging Het
Cecr2 T A 6: 120,735,141 (GRCm39) H764Q possibly damaging Het
Cep131 T C 11: 119,967,742 (GRCm39) probably null Het
Ces2e T C 8: 105,656,208 (GRCm39) V173A probably damaging Het
Clstn3 T C 6: 124,408,591 (GRCm39) D944G probably benign Het
Cyb5rl C A 4: 106,938,110 (GRCm39) A189E probably damaging Het
Cyp2c40 A G 19: 39,801,133 (GRCm39) S41P probably damaging Het
Dscam A G 16: 96,621,076 (GRCm39) L544P probably damaging Het
Epha2 A G 4: 141,049,063 (GRCm39) K640E possibly damaging Het
Erap1 T A 13: 74,814,241 (GRCm39) C8* probably null Het
Fat3 A G 9: 15,907,233 (GRCm39) V2923A probably benign Het
Fat4 A T 3: 38,945,459 (GRCm39) I1451F probably damaging Het
Fcsk A T 8: 111,621,455 (GRCm39) I163N probably damaging Het
Fzd6 G A 15: 38,894,722 (GRCm39) G296D probably damaging Het
Gm3486 T A 14: 41,206,492 (GRCm39) M194L probably benign Het
Gm5592 C T 7: 40,937,837 (GRCm39) A373V probably damaging Het
Hectd3 T A 4: 116,853,652 (GRCm39) probably null Het
Hira T A 16: 18,751,764 (GRCm39) V521E probably benign Het
Hsd17b6 A G 10: 127,830,348 (GRCm39) L141S possibly damaging Het
Idua A G 5: 108,829,538 (GRCm39) D467G probably benign Het
Ikzf4 G A 10: 128,470,401 (GRCm39) P373L probably benign Het
Kcng1 T C 2: 168,110,609 (GRCm39) E185G probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lpcat4 T C 2: 112,074,188 (GRCm39) L250P probably damaging Het
Lrrc49 A G 9: 60,528,914 (GRCm39) Y281H probably damaging Het
Mta2 C A 19: 8,925,088 (GRCm39) probably null Het
Myocd T A 11: 65,091,714 (GRCm39) N76I probably benign Het
Nav2 T A 7: 49,197,922 (GRCm39) Y1123N probably damaging Het
Otogl A T 10: 107,652,972 (GRCm39) C1127S probably damaging Het
Pcdhb8 A G 18: 37,488,891 (GRCm39) K190E probably damaging Het
Pcnx1 A G 12: 82,037,478 (GRCm39) H1918R probably damaging Het
Pde2a T A 7: 101,150,867 (GRCm39) Y272N probably damaging Het
Phldb3 T C 7: 24,318,660 (GRCm39) V313A probably benign Het
Plch2 C T 4: 155,091,451 (GRCm39) V116I possibly damaging Het
Plod2 G A 9: 92,466,657 (GRCm39) probably null Het
Ppfibp2 T C 7: 107,339,796 (GRCm39) Y730H probably damaging Het
Ptprh T C 7: 4,604,912 (GRCm39) E44G probably benign Het
Rab11fip1 T C 8: 27,642,438 (GRCm39) E787G probably damaging Het
Rabep2 T A 7: 126,043,444 (GRCm39) L448Q probably damaging Het
Rbfox3 A G 11: 118,387,762 (GRCm39) probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf125 A G 18: 21,110,873 (GRCm39) T44A probably benign Het
Rusc2 G T 4: 43,426,046 (GRCm39) A1384S probably benign Het
Selp T A 1: 163,969,009 (GRCm39) C536* probably null Het
Serpinb3c G A 1: 107,199,504 (GRCm39) T339I probably damaging Het
Slc4a5 C T 6: 83,273,617 (GRCm39) R986C probably damaging Het
Slc8b1 T C 5: 120,659,180 (GRCm39) I208T probably benign Het
Sp3 G A 2: 72,776,999 (GRCm39) H533Y probably damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tiam2 A G 17: 3,568,698 (GRCm39) R1615G probably damaging Het
Tie1 T C 4: 118,333,460 (GRCm39) E802G probably damaging Het
Tinagl1 A G 4: 130,061,842 (GRCm39) V164A probably benign Het
Vmn1r68 A G 7: 10,261,802 (GRCm39) Y99H probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r56 T C 7: 12,466,972 (GRCm39) T21A probably benign Het
Zfp108 C A 7: 23,957,964 (GRCm39) H34Q possibly damaging Het
Zfp267 T A 3: 36,218,620 (GRCm39) F214L probably benign Het
Zfp456 C T 13: 67,514,674 (GRCm39) S344N probably benign Het
Zscan22 T C 7: 12,640,907 (GRCm39) C384R 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
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
R1939:Myo15b UTSW 11 115,778,529 (GRCm39) missense probably benign 0.00
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'- GAACAAGGCCCCAGGGTCATTATC -3'
(R):5'- CAGCTTACTCACTCTCAGCACTACG -3'

Sequencing Primer
(F):5'- GGCATTATCTGGCACTGCAT -3'
(R):5'- CTTTACCATGCAAGATAGAGGC -3'
Posted On 2014-05-23