Mutagenetix > Incidental Mutation

Incidental Mutation 'R1894:Myo15b'

211828

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, LOC380737, E330039G21Rik

MMRRC Submission

039914-MU

Accession Numbers

Essential gene?

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

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115749232-115783429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115777899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 1049 (G1049S)

Ref Sequence

ENSEMBL: ENSMUSP00000152405 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040703
AA Change: G817S

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

SMART Domains

Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427
AA Change: G817S

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

unknown
Transcript: ENSMUST00000093911
AA Change: G2471S

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: G2471S

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 damaging
Transcript: ENSMUST00000125835
AA Change: G114S

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

SMART Domains

Protein: ENSMUSP00000144423
Gene: ENSMUSG00000034427
AA Change: G114S

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

probably damaging
Transcript: ENSMUST00000222123
AA Change: G1049S

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

Meta Mutation Damage Score

0.2672

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Ago4	A	G	4: 126,406,393 (GRCm39)	Y306H	probably benign	Het
Cblc	T	C	7: 19,526,502 (GRCm39)	T196A	probably damaging	Het
Cfap52	T	A	11: 67,844,445 (GRCm39)		probably null	Het
Cops3	T	C	11: 59,710,844 (GRCm39)	N375S	probably benign	Het
Crb1	T	C	1: 139,170,931 (GRCm39)	T759A	probably benign	Het
Dnah3	T	C	7: 119,685,557 (GRCm39)	K153E	probably benign	Het
Elovl1	C	T	4: 118,287,945 (GRCm39)	S27F	probably damaging	Het
Erc2	A	G	14: 27,863,185 (GRCm39)	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840 (GRCm39)	C86F	probably damaging	Het
Fbn1	T	A	2: 125,236,541 (GRCm39)	R380W	probably damaging	Het
Gatad2a	C	T	8: 70,369,301 (GRCm39)	R221Q	probably damaging	Het
Gcn1	C	T	5: 115,727,174 (GRCm39)	P677L	probably damaging	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,232,605 (GRCm39)	V136A	unknown	Het
Gmip	T	A	8: 70,273,622 (GRCm39)	L971H	probably damaging	Het
Gnptab	G	A	10: 88,254,989 (GRCm39)	E192K	possibly damaging	Het
Grm7	G	A	6: 111,335,568 (GRCm39)	V660I	probably benign	Het
Helz2	G	A	2: 180,876,082 (GRCm39)	P1471S	probably damaging	Het
Herc1	G	A	9: 66,386,743 (GRCm39)	G3786S	probably damaging	Het
Isg20	T	C	7: 78,569,647 (GRCm39)	V206A	probably benign	Het
Jund	T	A	8: 71,152,470 (GRCm39)	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,353,079 (GRCm39)	I263F	probably damaging	Het
Kif2c	A	T	4: 117,019,420 (GRCm39)	L561Q	probably benign	Het
Klhl3	T	C	13: 58,157,189 (GRCm39)	D546G	probably damaging	Het
Klk1b4	A	T	7: 43,859,054 (GRCm39)	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,834,735 (GRCm39)	C225S	probably damaging	Het
Mcub	T	C	3: 129,728,312 (GRCm39)	H55R	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Med18	G	A	4: 132,187,242 (GRCm39)	R86*	probably null	Het
Mfsd2b	T	C	12: 4,919,155 (GRCm39)	E63G	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Nfrkb	T	A	9: 31,326,064 (GRCm39)	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,004,419 (GRCm39)	M411L	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nup214	A	T	2: 31,886,392 (GRCm39)	T585S	possibly damaging	Het
Or5m13	C	T	2: 85,748,599 (GRCm39)	T110I	probably benign	Het
Or6c214	A	T	10: 129,590,943 (GRCm39)	C125*	probably null	Het
Or7e177	T	C	9: 20,211,633 (GRCm39)	S47P	probably benign	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pih1d1	T	A	7: 44,807,165 (GRCm39)	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,366,263 (GRCm39)	F181L	probably benign	Het
Prx	C	T	7: 27,218,535 (GRCm39)	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,754,199 (GRCm39)	V5E	probably damaging	Het
Rassf9	C	A	10: 102,380,755 (GRCm39)	R44S	possibly damaging	Het
Relch	A	T	1: 105,592,301 (GRCm39)	I157F	probably benign	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Sec16b	T	A	1: 157,380,545 (GRCm39)	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,085,937 (GRCm39)	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,942,483 (GRCm39)	C721Y	probably damaging	Het
Slx4ip	A	T	2: 136,910,038 (GRCm39)	K344N	probably benign	Het
Sorcs3	A	T	19: 48,782,713 (GRCm39)	Q1076L	probably benign	Het
Spata21	A	T	4: 140,838,692 (GRCm39)	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,875,936 (GRCm39)	P533H	probably benign	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Tex14	T	G	11: 87,365,274 (GRCm39)	F61V	probably damaging	Het
Timp3	C	T	10: 86,181,716 (GRCm39)	R196*	probably null	Het
Tll2	A	G	19: 41,077,110 (GRCm39)		probably null	Het
Tppp	A	G	13: 74,169,326 (GRCm39)	D22G	possibly damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Uaca	T	C	9: 60,777,718 (GRCm39)	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,287,130 (GRCm39)	E146G	probably damaging	Het
Vmn1r233	T	C	17: 21,213,994 (GRCm39)	S319G	probably benign	Het
Wdr47	A	T	3: 108,530,692 (GRCm39)	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,989,319 (GRCm39)		probably null	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCGGGTAGTAAATAGCTCACC -3'
(R):5'- AGTTAGGCCTGTATCACTTCACC -3'

Sequencing Primer
(F):5'- AGGACTCCGGCTATGTCATC -3'
(R):5'- AGGCCTGTATCACTTCACCTCTTC -3'

Posted On

2014-06-30