Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Myo15b'

707259

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, LOC380737, E330039G21Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115749232-115783429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115749861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 210 (K210N)

Ref Sequence

ENSEMBL: ENSMUSP00000091439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093911] [ENSMUST00000103032] [ENSMUST00000177736]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: K210N

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: ENSMUST00000103032

SMART Domains

Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782

Domain	Start	End	E-Value	Type
WD40	24	60	9.17e1	SMART
WD40	62	101	7.96e0	SMART
Blast:WD40	112	157	6e-20	BLAST
WD40	181	217	3.96e1	SMART
WD40	221	258	5.7e1	SMART
Pfam:LLGL	268	372	3.2e-47	PFAM
WD40	411	451	1.38e0	SMART
Blast:WD40	489	532	3e-12	BLAST
low complexity region	536	547	N/A	INTRINSIC
Blast:WD40	576	615	2e-10	BLAST
low complexity region	649	668	N/A	INTRINSIC
Blast:WD40	830	879	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000128826

Predicted Effect

probably benign
Transcript: ENSMUST00000177736

SMART Domains

Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782

Domain	Start	End	E-Value	Type
WD40	24	60	5.9e-1	SMART
WD40	62	101	5.2e-2	SMART
Blast:WD40	112	157	6e-20	BLAST
WD40	181	217	2.5e-1	SMART
WD40	221	258	3.6e-1	SMART
Pfam:LLGL	271	372	6.2e-41	PFAM
WD40	411	451	8.8e-3	SMART
Blast:WD40	489	532	3e-12	BLAST
low complexity region	536	547	N/A	INTRINSIC
Blast:WD40	576	615	2e-10	BLAST
low complexity region	649	668	N/A	INTRINSIC
Blast:WD40	854	903	2e-10	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adad1	T	C	3: 37,139,247 (GRCm39)	V439A	possibly damaging	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Arhgef10l	G	A	4: 140,338,624 (GRCm39)	T46I	probably damaging	Het
C3ar1	A	G	6: 122,827,278 (GRCm39)	V313A	probably benign	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc30	T	A	4: 119,190,920 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cept1	A	G	3: 106,412,575 (GRCm39)	L299S	possibly damaging	Het
Clba1	T	C	12: 112,775,898 (GRCm39)	L218P	probably damaging	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,479,346 (GRCm39)	L743P	probably benign	Het
Cop1	T	C	1: 159,072,221 (GRCm39)	V179A	probably benign	Het
Cpvl	A	G	6: 53,909,479 (GRCm39)	I219T	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Exosc10	T	C	4: 148,665,588 (GRCm39)	F842L	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Fbn2	G	A	18: 58,342,723 (GRCm39)	A52V	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm13283	T	A	4: 88,679,036 (GRCm39)	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,080,873 (GRCm39)	S58P		Het
Grm8	A	T	6: 27,761,214 (GRCm39)	S337T	probably benign	Het
Hdac5	G	A	11: 102,096,178 (GRCm39)	P332S	probably damaging	Het
Hr	A	T	14: 70,797,324 (GRCm39)	E519V	probably benign	Het
Hspbap1	A	G	16: 35,645,395 (GRCm39)	H360R	probably benign	Het
Iqgap3	T	G	3: 88,023,425 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Lrrn4	A	T	2: 132,712,552 (GRCm39)	S424T	probably benign	Het
Lsm10	C	A	4: 125,991,660 (GRCm39)	H5Q	probably damaging	Het
Megf10	A	T	18: 57,394,252 (GRCm39)	K459*	probably null	Het
Or12e7	T	A	2: 87,287,527 (GRCm39)	I6N	probably benign	Het
Or8k38	T	C	2: 86,488,476 (GRCm39)	T109A	probably benign	Het
Park7	A	T	4: 150,991,553 (GRCm39)	C46S	probably damaging	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,052,198 (GRCm39)	M576K	unknown	Het
Prelid3b	G	A	2: 174,310,161 (GRCm39)	T74M	probably benign	Het
Prg4	T	C	1: 150,327,116 (GRCm39)	Y311C	probably damaging	Het
Prom2	A	C	2: 127,371,094 (GRCm39)	V801G	probably damaging	Het
Psmd9	T	A	5: 123,386,387 (GRCm39)	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521 (GRCm39)	L647F	probably damaging	Het
Ptprj	T	C	2: 90,270,238 (GRCm39)	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,445,689 (GRCm39)	I449T	probably damaging	Het
Rev3l	A	T	10: 39,698,850 (GRCm39)	S1116C	probably benign	Het
Rnf212	A	T	5: 108,922,755 (GRCm39)	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Rtf2	A	T	2: 172,308,205 (GRCm39)	K201N	probably damaging	Het
Runx3	A	G	4: 134,890,574 (GRCm39)	T173A	probably damaging	Het
Sardh	T	C	2: 27,086,678 (GRCm39)	I827M	probably benign	Het
Sec22b	T	C	3: 97,828,494 (GRCm39)	Y186H	probably benign	Het
Serpina5	C	T	12: 104,071,542 (GRCm39)	T383I	possibly damaging	Het
Slc12a2	A	G	18: 58,063,238 (GRCm39)	D906G	probably damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Stat1	G	T	1: 52,191,429 (GRCm39)	A595S	probably benign	Het
Stat3	A	T	11: 100,798,815 (GRCm39)		probably null	Het
Styxl1	T	C	5: 135,794,592 (GRCm39)	S82G	probably benign	Het
Taf1b	T	A	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Them5	A	G	3: 94,254,048 (GRCm39)	M257V	unknown	Het
Tln1	A	T	4: 43,532,927 (GRCm39)	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,202,823 (GRCm39)	S379G	probably damaging	Het
Vrk1	T	C	12: 106,024,957 (GRCm39)		probably null	Het
Zbtb34	T	C	2: 33,301,716 (GRCm39)	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,799,274 (GRCm39)	C214R	probably benign	Het
Zeb2	A	G	2: 44,912,912 (GRCm39)	V137A	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
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
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'- GCTGCAGAACATCACAGGAG -3'
(R):5'- GATGCCACTTGAGGTTCCTG -3'

Sequencing Primer
(F):5'- TTTGACTCGGCGAGGTCAC -3'
(R):5'- CCACTTGAGGTTCCTGGGATC -3'

Posted On

2022-04-18