Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02716:Myo15b'

304784

Institutional Source

Australian Phenomics Network (link to record)

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: 0.086) question?

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

115858406-115892603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115883709 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 2049 (E2049V)

Ref Sequence

ENSEMBL: ENSMUSP00000091439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040703] [ENSMUST00000093911] [ENSMUST00000125835] [ENSMUST00000167507] [ENSMUST00000222123]

Predicted Effect

probably benign
Transcript: ENSMUST00000040703
AA Change: E395V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427
AA Change: E395V

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000093911
AA Change: E2049V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: E2049V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125835

SMART Domains

Protein: ENSMUSP00000144423
Gene: ENSMUSG00000034427

Domain	Start	End	E-Value	Type
SH3	75	132	7e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151507

Predicted Effect

probably benign
Transcript: ENSMUST00000167507

SMART Domains

Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000222123
AA Change: E627V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,327,276	S212P	probably benign	Het
Ago2	C	T	15: 73,111,727	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,125,479	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,479,687	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,962,524	S420L	possibly damaging	Het
Cenpo	T	C	12: 4,215,390	N210S	possibly damaging	Het
Chadl	T	C	15: 81,695,915	N40D	probably damaging	Het
Crebbp	T	C	16: 4,114,878	E586G	probably benign	Het
Cts7	T	A	13: 61,356,608	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,807,536	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,937,023	M3679K	probably damaging	Het
Dym	T	C	18: 75,286,683	Y642H	probably damaging	Het
Efr3b	T	C	12: 3,984,627	D65G	probably damaging	Het
Elmo1	T	A	13: 20,449,502	F445I	probably damaging	Het
Epdr1	C	T	13: 19,594,570	V119M	probably benign	Het
Epha4	G	T	1: 77,380,965	R799S	probably damaging	Het
Esyt3	A	T	9: 99,317,224	V778E	probably damaging	Het
F10	A	T	8: 13,048,177	K127*	probably null	Het
Fcgbp	G	A	7: 28,101,434	E1302K	probably damaging	Het
Fer1l4	A	G	2: 156,029,715	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,918,331	I318V	possibly damaging	Het
Fscn2	A	T	11: 120,366,724	T304S	probably benign	Het
Gab1	A	T	8: 80,769,694	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,256,838		noncoding transcript	Het
Gm572	A	G	4: 148,654,870	M52V	probably benign	Het
Hmgcr	T	C	13: 96,660,012		probably null	Het
Kcnk5	T	C	14: 20,181,428	T9A	probably damaging	Het
Krt87	A	C	15: 101,434,604	F243V	possibly damaging	Het
Mast1	G	T	8: 84,935,723	P52Q	probably damaging	Het
Mcf2l	A	T	8: 12,997,277	Q211L	probably benign	Het
Mtus2	C	A	5: 148,236,310	P968T	probably benign	Het
Mylk2	T	C	2: 152,922,153	*614R	probably null	Het
Myo6	A	T	9: 80,269,694	H581L	probably damaging	Het
Numb	A	T	12: 83,801,208	S241T	possibly damaging	Het
Olfr1265	G	T	2: 90,037,794	V292L	probably benign	Het
Olfr1283	A	T	2: 111,368,781	I50F	probably benign	Het
Olfr338	A	G	2: 36,377,343	D189G	possibly damaging	Het
Phldb2	A	G	16: 45,801,590	S676P	probably damaging	Het
Rttn	G	A	18: 89,048,417	E1196K	possibly damaging	Het
Skiv2l2	T	G	13: 112,883,146	D810A	probably benign	Het
Slc13a3	G	A	2: 165,406,715	P548S	unknown	Het
Slc2a7	A	G	4: 150,160,010		probably benign	Het
Slc37a1	T	C	17: 31,328,161	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,133,461	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,854,433		probably null	Het
Stambp	G	A	6: 83,556,390	T297I	probably damaging	Het
Sypl	T	A	12: 32,967,669	Y129N	probably damaging	Het
Syt14	G	A	1: 192,980,535	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,711,264	D222G	probably damaging	Het
Tead2	C	A	7: 45,232,296	Y79*	probably null	Het
Tmem251	A	G	12: 102,744,829	T104A	probably benign	Het
Uso1	T	C	5: 92,173,935	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,377,844	V88D	probably benign	Het
Vps29	A	G	5: 122,362,066	T85A	probably benign	Het
Wdr90	T	A	17: 25,857,220	S500C	probably damaging	Het
Zfp958	G	A	8: 4,625,967		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
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
X0020:Myo15b	UTSW	11	115871799	critical splice acceptor site	probably null

Posted On

2015-04-16