Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Myo15b'

707319

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, E330039G21Rik, LOC380737

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115858406-115892603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115871412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1186 (L1186P)

Ref Sequence

ENSEMBL: ENSMUSP00000091439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093911]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: L1186P

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam30	G	A	3: 98,162,813	G654D	probably damaging	Het
Cct3	T	C	3: 88,318,399	V343A	probably benign	Het
Col11a2	A	G	17: 34,047,230	T358A	unknown	Het
Cox6a2	T	C	7: 128,205,742	Y94C	probably damaging	Het
Cubn	T	A	2: 13,381,892	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,439,305	A14E	unknown	Het
Dlgap2	T	C	8: 14,179,683		probably null	Het
Dopey2	C	A	16: 93,803,560	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,826,002	S61G	probably null	Het
Ext2	T	A	2: 93,696,258	N678Y	probably damaging	Het
Fgfr2	G	T	7: 130,261,831	C28*	probably null	Het
Gm11487	T	C	4: 73,402,008	E178G	possibly damaging	Het
Gon4l	C	A	3: 88,901,712	D1754E	probably benign	Het
Hivep2	T	A	10: 14,128,949	C430*	probably null	Het
Htr7	C	T	19: 35,964,380		probably null	Het
Idh3b	A	T	2: 130,280,472	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,807,498	F56I	probably benign	Het
Inpp5k	C	T	11: 75,645,585	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,916,493	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,088,806	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536	H158L	probably benign	Het
Mpp2	T	A	11: 102,060,423	T511S	probably benign	Het
Msh4	T	C	3: 153,867,807	I737V	possibly damaging	Het
Nckap1l	A	G	15: 103,471,564	T346A	probably benign	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Npy5r	T	C	8: 66,682,006	N45S	probably benign	Het
Olfr771	T	C	10: 129,160,741	N81S	probably benign	Het
Pde6a	G	A	18: 61,221,037	A145T	probably damaging	Het
Pfkp	A	C	13: 6,584,688	S678A	probably damaging	Het
Phxr2	A	G	10: 99,126,181		probably benign	Het
Pi4ka	C	A	16: 17,317,363	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g4e	T	A	2: 120,189,433	T179S	probably benign	Het
Popdc2	G	A	16: 38,374,147	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,323,346	R113Q		Het
Prmt7	C	T	8: 106,235,033	R193C	unknown	Het
Prph	G	C	15: 99,057,478	R442P	probably damaging	Het
Prrc2b	A	G	2: 32,208,767	Y697C	probably damaging	Het
Ptprm	T	A	17: 66,762,148	R962S	probably damaging	Het
Raph1	A	G	1: 60,490,141	S654P	unknown	Het
Reln	A	G	5: 21,997,939	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,254,742	I553N	probably benign	Het
Rnf168	T	C	16: 32,291,983		probably null	Het
Slamf6	T	A	1: 171,919,590		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Taf4b	C	T	18: 14,821,498	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,208,403	V195A	probably benign	Het
Tomm70a	A	G	16: 57,122,036	M59V	probably benign	Het
Trip12	A	G	1: 84,749,298	S1184P	probably damaging	Het
Trrap	A	G	5: 144,791,115	S549G	probably benign	Het
Unc5d	T	A	8: 29,219,443		probably benign	Het
Ush2a	G	A	1: 188,576,292		probably null	Het
Usp45	T	C	4: 21,784,755	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,811,786	N773K	probably damaging	Het
Vps13c	A	T	9: 67,951,695	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,213,328	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,222,783	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,491,275	T366S	probably benign	Het

Other mutations in Myo15b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Myo15b	APN	11	115891916	missense	possibly damaging	0.69
IGL01409:Myo15b	APN	11	115869504	nonsense	probably null
IGL01539:Myo15b	APN	11	115863473	missense	probably benign	0.43
IGL01895:Myo15b	APN	11	115883498	missense	possibly damaging	0.77
IGL02254:Myo15b	APN	11	115886283	missense	probably damaging	1.00
IGL02343:Myo15b	APN	11	115873400	unclassified	probably benign
IGL02349:Myo15b	APN	11	115863105	splice site	probably benign
IGL02368:Myo15b	APN	11	115877002	missense	probably benign	0.13
IGL02576:Myo15b	APN	11	115890053	missense	probably null	0.97
IGL02650:Myo15b	APN	11	115886511	critical splice donor site	probably null
IGL02661:Myo15b	APN	11	115884069	missense	probably benign	0.01
IGL02716:Myo15b	APN	11	115883709	missense	probably benign	0.06
IGL02733:Myo15b	APN	11	115884250	missense	probably benign	0.00
IGL02951:Myo15b	APN	11	115881301	missense	probably damaging	1.00
IGL03017:Myo15b	APN	11	115887917	missense	possibly damaging	0.91
IGL03029:Myo15b	APN	11	115871643	missense	probably benign	0.08
ANU74:Myo15b	UTSW	11	115878413	missense	probably damaging	1.00
R0092:Myo15b	UTSW	11	115862986	missense	possibly damaging	0.90
R0255:Myo15b	UTSW	11	115886283	missense	probably damaging	1.00
R0325:Myo15b	UTSW	11	115884265	missense	probably damaging	1.00
R0614:Myo15b	UTSW	11	115882913	missense	probably damaging	1.00
R0652:Myo15b	UTSW	11	115864642	missense	probably benign	0.07
R0711:Myo15b	UTSW	11	115883838	missense	probably damaging	1.00
R0815:Myo15b	UTSW	11	115866336	splice site	probably benign
R0961:Myo15b	UTSW	11	115882454	missense	probably benign	0.15
R1066:Myo15b	UTSW	11	115879751	missense	probably benign	0.03
R1221:Myo15b	UTSW	11	115886720	missense	possibly damaging	0.75
R1240:Myo15b	UTSW	11	115880501	missense	possibly damaging	0.70
R1275:Myo15b	UTSW	11	115883492	small deletion	probably benign
R1313:Myo15b	UTSW	11	115885129	missense	probably damaging	1.00
R1313:Myo15b	UTSW	11	115885129	missense	probably damaging	1.00
R1317:Myo15b	UTSW	11	115883634	missense	probably null	0.14
R1491:Myo15b	UTSW	11	115886857	splice site	probably null
R1552:Myo15b	UTSW	11	115866635	missense	probably benign	0.08
R1731:Myo15b	UTSW	11	115891560	missense	possibly damaging	0.57
R1800:Myo15b	UTSW	11	115880509	critical splice donor site	probably null
R1843:Myo15b	UTSW	11	115869586	missense	probably benign	0.04
R1888:Myo15b	UTSW	11	115887073	missense	probably damaging	1.00
R1888:Myo15b	UTSW	11	115887073	missense	probably damaging	1.00
R1894:Myo15b	UTSW	11	115887073	missense	probably damaging	1.00
R1917:Myo15b	UTSW	11	115882254	missense	possibly damaging	0.51
R1934:Myo15b	UTSW	11	115863484	missense	probably benign	0.30
R1939:Myo15b	UTSW	11	115887703	missense	probably benign	0.00
R1945:Myo15b	UTSW	11	115878398	missense	probably damaging	1.00
R1986:Myo15b	UTSW	11	115882875	missense	probably benign	0.31
R2130:Myo15b	UTSW	11	115871643	missense	probably benign	0.08
R2138:Myo15b	UTSW	11	115883807	missense	probably benign	0.00
R2176:Myo15b	UTSW	11	115866572	missense	probably damaging	1.00
R2415:Myo15b	UTSW	11	115879564	missense	probably benign	0.00
R2483:Myo15b	UTSW	11	115864739	missense	probably benign	0.04
R3620:Myo15b	UTSW	11	115871187	missense	possibly damaging	0.46
R3716:Myo15b	UTSW	11	115863413	missense	probably benign	0.01
R4013:Myo15b	UTSW	11	115871456	nonsense	probably null
R4021:Myo15b	UTSW	11	115873505	missense	probably benign	0.07
R4119:Myo15b	UTSW	11	115873492	missense	probably benign	0.07
R4120:Myo15b	UTSW	11	115873492	missense	probably benign	0.07
R4499:Myo15b	UTSW	11	115890952	missense	probably benign	0.00
R4653:Myo15b	UTSW	11	115879987	critical splice donor site	probably null
R4655:Myo15b	UTSW	11	115890697	missense	probably damaging	1.00
R4700:Myo15b	UTSW	11	115861935	missense	possibly damaging	0.55
R4702:Myo15b	UTSW	11	115884008	missense	probably benign	0.01
R4777:Myo15b	UTSW	11	115879652	missense	probably damaging	0.99
R4833:Myo15b	UTSW	11	115887602	missense	possibly damaging	0.51
R5083:Myo15b	UTSW	11	115866656	missense	probably benign	0.01
R5121:Myo15b	UTSW	11	115886054	missense	probably damaging	1.00
R5146:Myo15b	UTSW	11	115891198	missense	probably benign	0.00
R5535:Myo15b	UTSW	11	115881301	missense	probably damaging	1.00
R5647:Myo15b	UTSW	11	115871511	missense	probably damaging	0.99
R5849:Myo15b	UTSW	11	115881933	missense	probably damaging	1.00
R5882:Myo15b	UTSW	11	115869596	missense	probably damaging	1.00
R5956:Myo15b	UTSW	11	115873757	missense	probably benign	0.34
R6273:Myo15b	UTSW	11	115862799	missense	possibly damaging	0.63
R6302:Myo15b	UTSW	11	115886239	missense	possibly damaging	0.88
R6318:Myo15b	UTSW	11	115890831	missense	probably damaging	1.00
R6462:Myo15b	UTSW	11	115859442	missense	probably benign	0.01
R6792:Myo15b	UTSW	11	115885097	missense	probably damaging	1.00
R6963:Myo15b	UTSW	11	115890714	splice site	probably null
R7015:Myo15b	UTSW	11	115871844	missense
R7020:Myo15b	UTSW	11	115866667	nonsense	probably null
R7096:Myo15b	UTSW	11	115891498	splice site	probably null
R7219:Myo15b	UTSW	11	115877095	critical splice donor site	probably null
R7400:Myo15b	UTSW	11	115860113	missense
R7413:Myo15b	UTSW	11	115878144	missense
R7483:Myo15b	UTSW	11	115858744	missense
R7523:Myo15b	UTSW	11	115890858	missense	unknown
R7737:Myo15b	UTSW	11	115887923	missense	unknown
R7784:Myo15b	UTSW	11	115861340	missense
R7842:Myo15b	UTSW	11	115871495	missense
R7921:Myo15b	UTSW	11	115887178	nonsense	probably null
R8065:Myo15b	UTSW	11	115887943	critical splice donor site	probably null
R8183:Myo15b	UTSW	11	115883017	splice site	probably null
R8193:Myo15b	UTSW	11	115885147	missense	probably damaging	1.00
R8237:Myo15b	UTSW	11	115877001	missense
R8430:Myo15b	UTSW	11	115882223	missense	probably benign	0.02
R8482:Myo15b	UTSW	11	115883257	nonsense	probably null
R8515:Myo15b	UTSW	11	115858784	missense
R8798:Myo15b	UTSW	11	115863406	missense
R8937:Myo15b	UTSW	11	115882301	missense	probably benign	0.00
R8975:Myo15b	UTSW	11	115890954	missense	unknown
R9045:Myo15b	UTSW	11	115892352	makesense	probably null
R9117:Myo15b	UTSW	11	115887917	missense	possibly damaging	0.91
R9185:Myo15b	UTSW	11	115880429	missense	unknown
R9226:Myo15b	UTSW	11	115860098	missense
R9302:Myo15b	UTSW	11	115885412	missense	possibly damaging	0.83
R9318:Myo15b	UTSW	11	115885139	missense	probably benign	0.26
R9336:Myo15b	UTSW	11	115880238	missense
R9337:Myo15b	UTSW	11	115859035	missense
R9498:Myo15b	UTSW	11	115879958	missense
R9500:Myo15b	UTSW	11	115886640	missense	probably damaging	0.98
X0020:Myo15b	UTSW	11	115871799	critical splice acceptor site	probably null
Z1176:Myo15b	UTSW	11	115883452	missense	possibly damaging	0.81
Z1176:Myo15b	UTSW	11	115887925	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTCAGGTGCACAGAGAGCTTTG -3'
(R):5'- TGGATGACGTAGACATGGCC -3'

Sequencing Primer
(F):5'- CACAGAGAGCTTTGCGGGG -3'
(R):5'- GGACAGTAGTCATAGATCCCACTTC -3'

Posted On

2022-04-18