Mutagenetix > Incidental Mutation

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, LOC380737, E330039G21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

115749232-115783429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115774535 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 54,218,102 (GRCm39)	S212P	probably benign	Het
Ago2	C	T	15: 72,983,576 (GRCm39)	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,053,201 (GRCm39)	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857 (GRCm39)	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,407,425 (GRCm39)	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,792,868 (GRCm39)	S420L	possibly damaging	Het
Cenpo	T	C	12: 4,265,390 (GRCm39)	N210S	possibly damaging	Het
Chadl	T	C	15: 81,580,116 (GRCm39)	N40D	probably damaging	Het
Crebbp	T	C	16: 3,932,742 (GRCm39)	E586G	probably benign	Het
Cts7	T	A	13: 61,504,422 (GRCm39)	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,795,980 (GRCm39)	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,536,246 (GRCm39)	M3679K	probably damaging	Het
Dym	T	C	18: 75,419,754 (GRCm39)	Y642H	probably damaging	Het
Efr3b	T	C	12: 4,034,627 (GRCm39)	D65G	probably damaging	Het
Elmo1	T	A	13: 20,633,672 (GRCm39)	F445I	probably damaging	Het
Epdr1	C	T	13: 19,778,740 (GRCm39)	V119M	probably benign	Het
Epha4	G	T	1: 77,357,602 (GRCm39)	R799S	probably damaging	Het
Esyt3	A	T	9: 99,199,277 (GRCm39)	V778E	probably damaging	Het
F10	A	T	8: 13,098,177 (GRCm39)	K127*	probably null	Het
Fcgbp	G	A	7: 27,800,859 (GRCm39)	E1302K	probably damaging	Het
Fer1l4	A	G	2: 155,871,635 (GRCm39)	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,645,642 (GRCm39)	I318V	possibly damaging	Het
Fscn2	A	T	11: 120,257,550 (GRCm39)	T304S	probably benign	Het
Gab1	A	T	8: 81,496,323 (GRCm39)	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,184,576 (GRCm39)		noncoding transcript	Het
Gm572	A	G	4: 148,739,327 (GRCm39)	M52V	probably benign	Het
Hmgcr	T	C	13: 96,796,520 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,231,496 (GRCm39)	T9A	probably damaging	Het
Krt87	A	C	15: 101,332,485 (GRCm39)	F243V	possibly damaging	Het
Lyset	A	G	12: 102,711,088 (GRCm39)	T104A	probably benign	Het
Mast1	G	T	8: 85,662,352 (GRCm39)	P52Q	probably damaging	Het
Mcf2l	A	T	8: 13,047,277 (GRCm39)	Q211L	probably benign	Het
Mtrex	T	G	13: 113,019,680 (GRCm39)	D810A	probably benign	Het
Mtus2	C	A	5: 148,173,120 (GRCm39)	P968T	probably benign	Het
Mylk2	T	C	2: 152,764,073 (GRCm39)	*614R	probably null	Het
Myo6	A	T	9: 80,176,976 (GRCm39)	H581L	probably damaging	Het
Numb	A	T	12: 83,847,982 (GRCm39)	S241T	possibly damaging	Het
Or1j10	A	G	2: 36,267,355 (GRCm39)	D189G	possibly damaging	Het
Or4k77	A	T	2: 111,199,126 (GRCm39)	I50F	probably benign	Het
Or4x11	G	T	2: 89,868,138 (GRCm39)	V292L	probably benign	Het
Phldb2	A	G	16: 45,621,953 (GRCm39)	S676P	probably damaging	Het
Rttn	G	A	18: 89,066,541 (GRCm39)	E1196K	possibly damaging	Het
Slc13a3	G	A	2: 165,248,635 (GRCm39)	P548S	unknown	Het
Slc2a7	A	G	4: 150,244,467 (GRCm39)		probably benign	Het
Slc37a1	T	C	17: 31,547,135 (GRCm39)	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,041,896 (GRCm39)	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,883,287 (GRCm39)		probably null	Het
Stambp	G	A	6: 83,533,372 (GRCm39)	T297I	probably damaging	Het
Sypl1	T	A	12: 33,017,668 (GRCm39)	Y129N	probably damaging	Het
Syt14	G	A	1: 192,662,843 (GRCm39)	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,688,227 (GRCm39)	D222G	probably damaging	Het
Tead2	C	A	7: 44,881,720 (GRCm39)	Y79*	probably null	Het
Uso1	T	C	5: 92,321,794 (GRCm39)	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124 (GRCm39)	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,213,678 (GRCm39)	V88D	probably benign	Het
Vps29	A	G	5: 122,500,129 (GRCm39)	T85A	probably benign	Het
Wdr90	T	A	17: 26,076,194 (GRCm39)	S500C	probably damaging	Het
Zfp958	G	A	8: 4,675,967 (GRCm39)		probably null	Het

Other mutations in Myo15b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16