Mutagenetix > Incidental Mutations

Incidental Mutation 'R5882:Myo15b'

454482

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, E330039G21Rik, LOC380737

MMRRC Submission

043236-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5882 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115858406-115892603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115869596 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1158 (Y1158C)

Ref Sequence

ENSEMBL: ENSMUSP00000091439 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093911
AA Change: Y1158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: Y1158C

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: 99.9%
3x: 99.5%
10x: 96.5%
20x: 86.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	T	A	15: 77,718,247	H348Q	probably benign	Het
Cacna1g	T	A	11: 94,459,819	E400V	probably damaging	Het
Cyp2j6	T	A	4: 96,535,602	K176N	probably benign	Het
Dcaf4	T	C	12: 83,539,429	V377A	probably damaging	Het
Dennd1a	A	G	2: 37,961,663	L71P	probably damaging	Het
Dmbx1	G	T	4: 115,920,301	R117S	probably damaging	Het
Ep400	A	G	5: 110,755,587	V382A	probably benign	Het
Kars	G	A	8: 112,003,425	R107*	probably null	Het
Kif16b	C	T	2: 142,707,258		probably null	Het
Lrrc69	A	G	4: 14,708,690	F218S	probably damaging	Het
Myom1	G	C	17: 71,110,722	A1307P	probably damaging	Het
Nacad	C	T	11: 6,598,568	V1389I	possibly damaging	Het
Nit2	T	C	16: 57,159,466	D132G	probably benign	Het
Nln	G	T	13: 104,059,498	D60E	probably benign	Het
Oas1f	G	A	5: 120,848,253	E90K	probably damaging	Het
Obox3	A	G	7: 15,626,968	V82A	probably benign	Het
Olfr1277	A	T	2: 111,270,139	V76E	probably damaging	Het
Olfr874	C	T	9: 37,746,632	T166I	probably benign	Het
Pcdhb1	A	T	18: 37,267,177	Q727L	probably benign	Het
Phactr1	G	T	13: 42,709,851		probably null	Het
Prkg1	A	T	19: 31,585,697	N116K	probably damaging	Het
Scnn1g	A	T	7: 121,767,358	S593C	possibly damaging	Het
Serpina6	T	C	12: 103,654,235	N85S	probably benign	Het
Spock3	A	G	8: 63,143,931	T93A	probably benign	Het
St7	T	C	6: 17,846,249	L121P	probably damaging	Het
Stoml2	G	C	4: 43,031,003	R57G	probably damaging	Het
Tdrd1	C	T	19: 56,848,939	R532C	probably damaging	Het
Tmc5	A	G	7: 118,654,919	N660S	probably damaging	Het
Tmem38a	A	G	8: 72,585,887	H233R	probably damaging	Het
Trp53bp2	T	C	1: 182,442,212	V304A	possibly damaging	Het
Ush1g	C	A	11: 115,318,542	M275I	probably damaging	Het
Zfp882	A	T	8: 71,913,459		probably null	Het
Zim1	A	T	7: 6,682,738		probably null	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
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
X0020:Myo15b	UTSW	11	115871799	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCGGTCTTCAGGAAGGAAC -3'
(R):5'- TGGCTCAGTGGTTAAGAGAGC -3'

Sequencing Primer
(F):5'- GAATTCAGGGAACAGTAAGTGTGTAC -3'
(R):5'- TAAGACACCTGCTGCTGAGTCTG -3'

Posted On

2017-02-10