Mutagenetix > Incidental Mutation

Incidental Mutation 'R6792:Myo15b'

532657

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, LOC380737, E330039G21Rik

MMRRC Submission

044905-MU

Accession Numbers

Essential gene?

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

Stock #

R6792 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

115749232-115783429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115775923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 805 (D805G)

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: D573G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427
AA Change: D573G

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: D2227G

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: D2227G

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

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: D805G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1599

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Aldh2	C	T	5: 121,718,712 (GRCm39)	G64R	probably damaging	Het
Atp11a	G	A	8: 12,911,939 (GRCm39)		probably benign	Het
Bcl11b	T	C	12: 107,955,993 (GRCm39)	D52G	probably damaging	Het
Bltp1	A	G	3: 37,065,715 (GRCm39)		probably null	Het
Capg	T	A	6: 72,532,537 (GRCm39)	I34K	possibly damaging	Het
Card11	T	A	5: 140,899,064 (GRCm39)	I37F	probably damaging	Het
Col27a1	G	T	4: 63,235,740 (GRCm39)	R724L	unknown	Het
Cryl1	T	C	14: 57,620,224 (GRCm39)	E47G	probably damaging	Het
Dgkb	A	T	12: 38,150,424 (GRCm39)	D70V	possibly damaging	Het
Dscam	T	C	16: 96,394,455 (GRCm39)	E1949G	probably damaging	Het
Dscam	A	G	16: 96,449,437 (GRCm39)	V1387A	probably damaging	Het
Exph5	G	A	9: 53,286,617 (GRCm39)	V1233M	possibly damaging	Het
Fat3	A	T	9: 16,286,940 (GRCm39)	V861E	probably damaging	Het
Fgfr4	T	G	13: 55,304,711 (GRCm39)	D184E	possibly damaging	Het
Fkbp14	G	T	6: 54,562,837 (GRCm39)	S49*	probably null	Het
Ginm1	T	C	10: 7,649,747 (GRCm39)	D182G	probably damaging	Het
Gk2	T	C	5: 97,603,588 (GRCm39)	I417V	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Malrd1	C	T	2: 16,155,567 (GRCm39)	P1992L	unknown	Het
Mapk6	A	T	9: 75,302,830 (GRCm39)	I221N	probably damaging	Het
Mup9	A	G	4: 60,377,354 (GRCm39)	V65A	possibly damaging	Het
Nup50l	T	C	6: 96,142,096 (GRCm39)	E316G	possibly damaging	Het
Or52a5b	A	G	7: 103,417,346 (GRCm39)	I86T	possibly damaging	Het
Or8k35	A	T	2: 86,424,283 (GRCm39)	D296E	probably benign	Het
Otof	T	A	5: 30,532,978 (GRCm39)	H1588L	probably damaging	Het
Pakap	A	G	4: 57,855,880 (GRCm39)	D403G	possibly damaging	Het
Pde4a	A	G	9: 21,103,886 (GRCm39)	K145R	probably benign	Het
Pik3ap1	A	T	19: 41,310,065 (GRCm39)	D418E	probably benign	Het
Pilrb2	C	A	5: 137,866,852 (GRCm39)	R217M	possibly damaging	Het
Plcb2	T	C	2: 118,549,922 (GRCm39)	N232S	probably damaging	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Ppp2r5d	A	G	17: 47,015,782 (GRCm39)	S2P	probably benign	Het
Prr5l	T	G	2: 101,547,769 (GRCm39)	N252T	probably benign	Het
Rbmyf5	A	G	Y: 3,298,867 (GRCm39)	Y206H	possibly damaging	Homo
Rilp	A	T	11: 75,403,601 (GRCm39)	K348*	probably null	Het
Slc17a7	A	G	7: 44,824,299 (GRCm39)	E505G	possibly damaging	Het
Slc6a21	T	A	7: 44,929,309 (GRCm39)	M1K	probably null	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Sorl1	A	T	9: 42,010,559 (GRCm39)	V137E	probably damaging	Het
Stam2	T	C	2: 52,597,993 (GRCm39)	I270V	probably benign	Het
Synj2	G	A	17: 6,040,565 (GRCm39)	A214T	probably benign	Het
Tars3	G	T	7: 65,312,051 (GRCm39)	C321F	probably damaging	Het
Tcea1	T	A	1: 4,962,268 (GRCm39)	D229E	probably benign	Het
Tdrd9	C	T	12: 111,993,547 (GRCm39)	R692W	probably benign	Het
Tkfc	T	C	19: 10,571,888 (GRCm39)	T383A	probably benign	Het
Traf1	T	C	2: 34,846,287 (GRCm39)	D43G	probably benign	Het
Tubgcp6	C	T	15: 89,007,080 (GRCm39)		probably benign	Het
Vit	A	T	17: 78,886,828 (GRCm39)	Y152F	probably damaging	Het
Vmn1r66	A	T	7: 10,008,412 (GRCm39)	M207K	possibly 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
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
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'- TCAGTCGCAACTCTGTTGGC -3'
(R):5'- TTCATGTGGAAAGAGGTGCGC -3'

Sequencing Primer
(F):5'- AGACAGGGTTTCTCTGTGTAGTCC -3'
(R):5'- GCGCAGGGCTTTTGGGC -3'

Posted On

2018-08-29