Mutagenetix > Incidental Mutation

Incidental Mutation 'R6302:Myo15b'

509299

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, LOC380737, E330039G21Rik

MMRRC Submission

044467-MU

Accession Numbers

Essential gene?

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

Stock #

R6302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115749232-115783429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115777065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2319 (I2319T)

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: I665T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427
AA Change: I665T

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

possibly damaging
Transcript: ENSMUST00000093911
AA Change: I2319T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: I2319T

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: ENSMUST00000141947

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

possibly damaging
Transcript: ENSMUST00000222123
AA Change: I897T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	T	4: 144,396,760 (GRCm39)	S324*	probably null	Het
Actl11	T	G	9: 107,806,772 (GRCm39)	V365G	probably benign	Het
Adgrg6	T	A	10: 14,317,227 (GRCm39)	D531V	probably benign	Het
Ankrd11	A	G	8: 123,616,728 (GRCm39)	S2354P	probably benign	Het
Ano9	A	T	7: 140,684,221 (GRCm39)	W514R	probably damaging	Het
Arfgef3	A	T	10: 18,528,589 (GRCm39)	V266E	probably damaging	Het
Bahcc1	T	C	11: 120,167,634 (GRCm39)	I1345T	probably damaging	Het
Bpifb4	G	A	2: 153,801,587 (GRCm39)	M355I	probably benign	Het
Catsperb	T	C	12: 101,554,402 (GRCm39)	S699P	possibly damaging	Het
Cdh23	T	G	10: 60,140,872 (GRCm39)	I3161L	possibly damaging	Het
Chd3	T	C	11: 69,244,604 (GRCm39)	T1257A	probably damaging	Het
Cnnm4	C	T	1: 36,539,036 (GRCm39)	T638I	probably benign	Het
Cspg4b	A	G	13: 113,504,646 (GRCm39)	D1925G	probably damaging	Het
Cyp26c1	A	G	19: 37,674,936 (GRCm39)	T86A	probably damaging	Het
Cyp3a63-ps	A	G	5: 145,564,847 (GRCm39)		noncoding transcript	Het
Dnah14	T	A	1: 181,428,771 (GRCm39)	I259N	possibly damaging	Het
Dnah17	T	C	11: 118,019,981 (GRCm39)	D22G	probably benign	Het
Epn2	T	G	11: 61,437,312 (GRCm39)	T87P	probably damaging	Het
Fbxl18	A	G	5: 142,874,578 (GRCm39)	L81P	probably damaging	Het
Gas1	A	T	13: 60,323,970 (GRCm39)	D221E	probably damaging	Het
Gm8356	T	C	14: 17,691,275 (GRCm39)	Y130C	probably damaging	Het
Gpr151	T	G	18: 42,712,459 (GRCm39)	K73T	probably damaging	Het
Helq	A	C	5: 100,946,305 (GRCm39)	V12G	probably damaging	Het
Inpp4b	A	G	8: 82,494,806 (GRCm39)	T74A	probably benign	Het
Kirrel3	G	A	9: 34,919,045 (GRCm39)	V234I	probably damaging	Het
Kxd1	T	A	8: 70,972,713 (GRCm39)		probably null	Het
Lif	T	C	11: 4,218,924 (GRCm39)	Y68H	probably damaging	Het
Map6	A	G	7: 98,985,314 (GRCm39)	Q406R	probably damaging	Het
Mcoln3	A	T	3: 145,830,527 (GRCm39)	M86L	probably benign	Het
Mei1	T	A	15: 81,987,439 (GRCm39)	Y834*	probably null	Het
Mroh1	T	C	15: 76,320,319 (GRCm39)		probably null	Het
Myo7b	T	G	18: 32,127,439 (GRCm39)	D621A	probably damaging	Het
Naip5	C	T	13: 100,359,674 (GRCm39)	A521T	possibly damaging	Het
Nek7	T	C	1: 138,426,351 (GRCm39)	D254G	probably damaging	Het
Nsd2	A	G	5: 34,024,921 (GRCm39)	R560G	possibly damaging	Het
Or2t46	T	C	11: 58,472,464 (GRCm39)	F265L	probably benign	Het
Or52x1	A	T	7: 104,852,926 (GRCm39)	L208H	probably damaging	Het
Pbx1	T	A	1: 168,018,910 (GRCm39)	T312S	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,610,097 (GRCm39)	S390G	probably damaging	Het
Plcxd3	C	T	15: 4,546,239 (GRCm39)	T81M	probably damaging	Het
Pmf1	C	T	3: 88,307,017 (GRCm39)		probably null	Het
Rabep1	T	C	11: 70,825,947 (GRCm39)	V739A	probably damaging	Het
Rex2	A	G	4: 147,142,451 (GRCm39)	D313G	possibly damaging	Het
Rpia	C	T	6: 70,750,485 (GRCm39)	V216I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec13	T	A	6: 113,712,167 (GRCm39)	H56L	probably damaging	Het
Sec16a	A	T	2: 26,315,817 (GRCm39)	V1733D	probably damaging	Het
Sim2	G	A	16: 93,898,089 (GRCm39)	A108T	probably damaging	Het
Slc27a5	T	C	7: 12,722,479 (GRCm39)	D665G	probably damaging	Het
Slc38a6	T	A	12: 73,383,849 (GRCm39)	V180E	probably damaging	Het
Smarcad1	T	G	6: 65,052,122 (GRCm39)	N38K	possibly damaging	Het
Spem2	T	C	11: 69,709,091 (GRCm39)	T45A	possibly damaging	Het
Svil	T	C	18: 5,057,432 (GRCm39)	S714P	probably benign	Het
Taar7b	T	A	10: 23,876,158 (GRCm39)	S108T	possibly damaging	Het
Tbl3	T	C	17: 24,923,645 (GRCm39)	K256E	probably benign	Het
Tcam1	T	G	11: 106,177,276 (GRCm39)	C423G	probably damaging	Het
Trpm4	A	T	7: 44,977,143 (GRCm39)		probably null	Het
Ttyh2	T	C	11: 114,592,662 (GRCm39)	C231R	probably damaging	Het
Ugt3a1	C	T	15: 9,365,397 (GRCm39)	P337S	probably damaging	Het
Vmn2r83	A	C	10: 79,304,837 (GRCm39)	T16P	possibly damaging	Het
Vps52	T	C	17: 34,182,189 (GRCm39)	F589S	probably damaging	Het
Xkr4	T	C	1: 3,286,961 (GRCm39)	T410A	probably damaging	Het
Xkr9	A	G	1: 13,742,726 (GRCm39)	T4A	probably damaging	Het
Yars2	T	C	16: 16,122,438 (GRCm39)	L268P	probably damaging	Het
Zbtb41	C	A	1: 139,357,027 (GRCm39)	N427K	possibly damaging	Het
Zeb2	T	C	2: 44,887,771 (GRCm39)	T414A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACACCTTCACAGAGTCCTG -3'
(R):5'- TTTGGGTCACCTTCAGCAGC -3'

Sequencing Primer
(F):5'- ACCCGGATCTCACAGGATG -3'
(R):5'- CAGCAGCTGTACATCGCTG -3'

Posted On

2018-04-02