Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02576:Myo15b'

299216

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: 0.063) question?

Stock #

IGL02576

Quality Score

Status

Chromosome

Chromosomal Location

115749232-115783429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115780879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1246 (S1246G)

Ref Sequence

ENSEMBL: ENSMUSP00000152405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000040703] [ENSMUST00000093911] [ENSMUST00000125835] [ENSMUST00000140174] [ENSMUST00000167507] [ENSMUST00000222123]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021097

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752

Domain	Start	End	E-Value	Type
DEXDc	25	230	1.13e-29	SMART
HELICc	274	355	8.68e-22	SMART
Pfam:RecQ_Zn_bind	366	436	1.8e-12	PFAM
low complexity region	472	499	N/A	INTRINSIC
PDB:4BK0\|B	516	621	2e-51	PDB
Pfam:RecQ5	626	818	3.1e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040703

SMART Domains

Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427

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 null
Transcript: ENSMUST00000093911
AA Change: S2668G

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: S2668G

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: ENSMUST00000136774

Predicted Effect

probably benign
Transcript: ENSMUST00000140174

SMART Domains

Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

Domain	Start	End	E-Value	Type
DEXDc	25	230	1.13e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167507
AA Change: S146G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427
AA Change: S146G

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

noncoding transcript
Transcript: ENSMUST00000141947

Predicted Effect

probably null
Transcript: ENSMUST00000222123
AA Change: S1246G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,032,678 (GRCm39)	I232M	probably benign	Het
Ace	G	A	11: 105,864,937 (GRCm39)	V537M	probably damaging	Het
Alg1	A	G	16: 5,062,393 (GRCm39)	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,271,133 (GRCm39)	S46N	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap65	A	G	1: 74,942,617 (GRCm39)	S1646P	probably damaging	Het
Cimap2	T	C	4: 106,448,825 (GRCm39)	D411G	possibly damaging	Het
Col20a1	C	T	2: 180,655,198 (GRCm39)	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 25,040,853 (GRCm39)	T92P	possibly damaging	Het
Drc3	T	C	11: 60,261,377 (GRCm39)	M176T	probably benign	Het
Esyt3	T	C	9: 99,197,278 (GRCm39)	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,321 (GRCm39)	V496A	probably benign	Het
Fut4	T	A	9: 14,662,701 (GRCm39)	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953 (GRCm39)		probably benign	Het
Glipr1l1	A	G	10: 111,896,224 (GRCm39)	K4E	possibly damaging	Het
Gm9945	A	G	11: 53,371,178 (GRCm39)		probably benign	Het
Hspa12a	A	C	19: 58,787,842 (GRCm39)	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,856,804 (GRCm39)	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,967,650 (GRCm39)	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,187,781 (GRCm39)	I158V	probably benign	Het
Itgae	A	G	11: 73,009,331 (GRCm39)	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,704,465 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,743,912 (GRCm39)	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,762,001 (GRCm39)	S450P	unknown	Het
Lhfpl2	G	A	13: 94,310,734 (GRCm39)	M1I	probably null	Het
Lig4	A	G	8: 10,021,116 (GRCm39)	I888T	probably damaging	Het
Msh4	G	A	3: 153,573,383 (GRCm39)	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,370,781 (GRCm39)	A3238V	probably benign	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pecam1	G	A	11: 106,562,600 (GRCm39)	T599M	probably damaging	Het
Phf3	G	A	1: 30,869,117 (GRCm39)	P644S	probably benign	Het
Pkd1l1	A	C	11: 8,794,560 (GRCm39)	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,736,801 (GRCm39)	M613T	possibly damaging	Het
Prim2	A	T	1: 33,523,798 (GRCm39)	I371N	probably damaging	Het
Ptprs	T	C	17: 56,721,958 (GRCm39)	D1316G	probably damaging	Het
Rnf19b	C	T	4: 128,967,315 (GRCm39)	R285*	probably null	Het
Secisbp2	A	G	13: 51,824,894 (GRCm39)	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,288,652 (GRCm39)	I586T	probably damaging	Het
Spef1	T	C	2: 131,016,562 (GRCm39)	H11R	possibly damaging	Het
Taar4	T	C	10: 23,836,909 (GRCm39)	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,824,703 (GRCm39)	F200S	possibly damaging	Het
Tex16	T	A	X: 111,028,653 (GRCm39)	L384Q	probably benign	Het
Tox2	A	G	2: 163,118,100 (GRCm39)	Q168R	probably damaging	Het
Trim5	T	A	7: 103,927,624 (GRCm39)	E172V	probably damaging	Het
Txndc11	G	A	16: 10,892,881 (GRCm39)		probably benign	Het
Vmn1r232	T	A	17: 21,134,175 (GRCm39)	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,485,472 (GRCm39)	H269L	probably benign	Het
Znrf4	T	C	17: 56,819,199 (GRCm39)	D36G	probably damaging	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
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
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