Incidental Mutation 'R1917:Myo15b'
ID 212630
Institutional Source Beutler Lab
Gene Symbol Myo15b
Ensembl Gene ENSMUSG00000034427
Gene Name myosin XVB
Synonyms LOC217328, LOC380737, E330039G21Rik
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115749232-115783429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115773080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 1837 (I1837K)
Ref Sequence ENSEMBL: ENSMUSP00000091439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040703] [ENSMUST00000093911] [ENSMUST00000125835] [ENSMUST00000222123]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040703
AA Change: I183K

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427
AA Change: I183K

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 possibly damaging
Transcript: ENSMUST00000093911
AA Change: I1837K

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: I1837K

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: ENSMUST00000151507
Predicted Effect probably benign
Transcript: ENSMUST00000222123
AA Change: I415K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,341 (GRCm39) probably benign Het
Adgre5 A G 8: 84,455,738 (GRCm39) V190A probably damaging Het
Akap6 A G 12: 53,151,395 (GRCm39) N1153S probably benign Het
Aldh1a7 G A 19: 20,704,819 (GRCm39) H20Y probably benign Het
B430306N03Rik A G 17: 48,631,176 (GRCm39) E278G probably benign Het
Cacna1b C A 2: 24,506,891 (GRCm39) R72L probably null Het
Cc2d2a C G 5: 43,863,564 (GRCm39) S675R probably damaging Het
Ccdc88b T A 19: 6,826,594 (GRCm39) E1040D probably damaging Het
Cmtm7 A G 9: 114,592,432 (GRCm39) V55A probably damaging Het
Coq4 A C 2: 29,679,938 (GRCm39) T77P probably damaging Het
Cyp2j11 C A 4: 96,228,211 (GRCm39) W136L probably damaging Het
Dctn2 T A 10: 127,110,918 (GRCm39) Y86* probably null Het
Ddx56 A G 11: 6,213,937 (GRCm39) probably null Het
Dop1b T C 16: 93,513,150 (GRCm39) S30P probably damaging Het
Ep400 T C 5: 110,851,441 (GRCm39) K1347R unknown Het
Fat3 T A 9: 15,908,353 (GRCm39) T2550S possibly damaging Het
Fcrla G T 1: 170,755,095 (GRCm39) C5* probably null Het
Fem1al A G 11: 29,774,039 (GRCm39) S473P probably benign Het
Fermt1 T A 2: 132,764,762 (GRCm39) D365V probably damaging Het
Fhod3 A G 18: 25,123,022 (GRCm39) probably benign Het
Fhod3 A G 18: 25,218,658 (GRCm39) D807G probably benign Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gart T C 16: 91,425,037 (GRCm39) Y662C probably damaging Het
Gda A T 19: 21,375,004 (GRCm39) probably benign Het
Gk A G X: 84,804,186 (GRCm39) I85T probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,607,684 (GRCm39) C2R unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gtf2h4 G A 17: 35,981,090 (GRCm39) L246F possibly damaging Het
Hao1 A T 2: 134,364,980 (GRCm39) S216T probably benign Het
Hnrnpr C A 4: 136,059,799 (GRCm39) S301* probably null Het
Hsd3b2 A G 3: 98,619,342 (GRCm39) I201T probably benign Het
Jade2 T C 11: 51,709,365 (GRCm39) E548G possibly damaging Het
Katnbl1 T C 2: 112,239,524 (GRCm39) I241T probably benign Het
Keap1 G T 9: 21,145,102 (GRCm39) Q299K probably benign Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Lrba G A 3: 86,571,808 (GRCm39) G275R probably damaging Het
Map3k9 C A 12: 81,827,564 (GRCm39) E29* probably null Het
Mat1a G A 14: 40,843,394 (GRCm39) V307I probably damaging Het
Mcm2 A T 6: 88,868,785 (GRCm39) M324K possibly damaging Het
Metap1d T C 2: 71,341,871 (GRCm39) V155A probably damaging Het
Mtbp A G 15: 55,428,073 (GRCm39) probably benign Het
Myh14 T C 7: 44,307,349 (GRCm39) T231A probably benign Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Myo3a T A 2: 22,296,733 (GRCm39) H242Q probably damaging Het
Nxn A G 11: 76,152,498 (GRCm39) probably benign Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Pak3 C A X: 142,574,298 (GRCm39) A553E possibly damaging Het
Pdia2 T A 17: 26,417,079 (GRCm39) T122S possibly damaging Het
Pira12 C T 7: 3,900,637 (GRCm39) V38M probably damaging Het
Plod2 A G 9: 92,463,310 (GRCm39) T132A probably benign Het
Ptprz1 T A 6: 23,035,039 (GRCm39) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Recql4 A T 15: 76,588,037 (GRCm39) Y1142* probably null Het
Rnf216 A G 5: 142,978,561 (GRCm39) V859A probably benign Het
Scnm1 G T 3: 95,037,584 (GRCm39) P161T possibly damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Serpinf1 A G 11: 75,301,833 (GRCm39) I274T possibly damaging Het
Slc28a1 T C 7: 80,819,334 (GRCm39) F641L probably benign Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Smchd1 A G 17: 71,714,232 (GRCm39) I877T possibly damaging Het
Spata31 T C 13: 65,068,679 (GRCm39) Y276H possibly damaging Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Sult2a5 T C 7: 13,404,609 (GRCm39) F282S probably damaging Het
Syk A T 13: 52,776,744 (GRCm39) D248V probably damaging Het
Thoc6 C T 17: 23,888,364 (GRCm39) probably benign Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tll2 T A 19: 41,116,936 (GRCm39) D293V possibly damaging Het
Umodl1 G A 17: 31,203,017 (GRCm39) V457M probably damaging Het
Usp19 T A 9: 108,376,524 (GRCm39) C689* probably null Het
Usp24 T G 4: 106,267,483 (GRCm39) V1955G probably damaging Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r69 C T 7: 85,060,891 (GRCm39) C231Y probably damaging Het
Wdr73 C T 7: 80,543,081 (GRCm39) D176N probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zfhx3 T C 8: 109,682,880 (GRCm39) S3440P unknown Het
Zfp52 T G 17: 21,780,426 (GRCm39) N91K probably benign Het
Zfp930 C A 8: 69,681,357 (GRCm39) Q350K probably benign Het
Zfp949 T C 9: 88,452,115 (GRCm39) S562P 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
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'- TGAATCTCCACAGGCAGCTG -3'
(R):5'- TGCCTTGAGTCCAAACTGGG -3'

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