Mutagenetix > Incidental Mutations

Incidental Mutation 'R2138:Myo15b'

235986

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, E330039G21Rik, LOC380737

MMRRC Submission

040141-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115858406-115892603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115883807 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2082 (S2082P)

Ref Sequence

ENSEMBL: ENSMUSP00000091439 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040703
AA Change: S428P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048072
Gene: ENSMUSG00000034427
AA Change: S428P

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 benign
Transcript: ENSMUST00000093911
AA Change: S2082P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: S2082P

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: ENSMUST00000151507

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 benign
Transcript: ENSMUST00000222123
AA Change: S660P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,283,963	V6A	probably benign	Het
Abcc6	A	G	7: 45,981,051	F1262L	probably damaging	Het
Acot13	A	T	13: 24,818,205		probably null	Het
Adgrv1	T	C	13: 81,445,320	I4183V	probably benign	Het
Aff4	T	G	11: 53,372,512	S120A	possibly damaging	Het
Afp	A	G	5: 90,499,647	E250G	probably damaging	Het
Ankrd34b	A	T	13: 92,439,406	D382V	probably damaging	Het
Arhgef19	A	T	4: 141,250,800	I577F	probably damaging	Het
Arl6	A	G	16: 59,622,467		probably benign	Het
Atp2b2	A	T	6: 113,796,307	M333K	probably benign	Het
Atp8b3	C	A	10: 80,527,105	A635S	possibly damaging	Het
Baiap2	A	G	11: 119,957,102	T19A	possibly damaging	Het
Bcar3	A	G	3: 122,512,996	D206G	probably damaging	Het
Ccdc162	A	T	10: 41,581,297	M85K	probably benign	Het
Clec4a4	A	G	6: 123,023,978	N217D	probably damaging	Het
Csmd1	T	C	8: 15,929,088	Y2832C	probably damaging	Het
Cubn	A	G	2: 13,444,378	I962T	probably damaging	Het
Dennd4a	A	G	9: 64,889,337	Y852C	probably damaging	Het
Dhcr24	G	T	4: 106,572,302	E191*	probably null	Het
Dusp12	G	A	1: 170,880,597	Q114*	probably null	Het
Elfn2	G	T	15: 78,674,038	T103K	probably benign	Het
Eme1	A	T	11: 94,648,192	V314E	probably damaging	Het
Epb41l3	A	G	17: 69,207,880	E4G	probably damaging	Het
Exoc6b	A	T	6: 84,989,482	L170Q	probably damaging	Het
Fam129a	G	A	1: 151,696,251	V316M	probably damaging	Het
Fbln5	C	T	12: 101,761,920	M261I	probably benign	Het
Fgf22	T	C	10: 79,756,601	V64A	probably damaging	Het
Gak	C	T	5: 108,606,877		probably null	Het
Gatad2b	T	A	3: 90,352,113	S401R	probably damaging	Het
Gen1	A	T	12: 11,241,621	S722R	probably damaging	Het
Gm10754	A	T	10: 97,682,270		probably benign	Het
Gm8897	A	T	5: 11,419,085	R68*	probably null	Het
Grid2	G	A	6: 64,345,798	R594Q	probably damaging	Het
Grm7	C	A	6: 110,646,137	N90K	probably damaging	Het
Herc1	G	A	9: 66,470,307	V3452M	possibly damaging	Het
Il22ra2	T	A	10: 19,632,870	F215L	probably benign	Het
Kank1	G	A	19: 25,411,753	G930D	probably benign	Het
Klra3	A	T	6: 130,333,158	V133D	probably benign	Het
Lims2	A	G	18: 31,955,407	E220G	possibly damaging	Het
Mbd3l2	A	T	9: 18,444,958	D193V	probably damaging	Het
Mbl1	T	A	14: 41,153,691	I34K	possibly damaging	Het
Mgam	C	T	6: 40,756,450	P839S	probably damaging	Het
Mmp9	G	T	2: 164,952,467	E460*	probably null	Het
Mov10	T	C	3: 104,804,242	H316R	probably benign	Het
Ms4a18	A	T	19: 10,997,331	V332D	possibly damaging	Het
Myrfl	G	A	10: 116,795,538	T706I	probably benign	Het
Nampt	C	A	12: 32,838,422	H191N	possibly damaging	Het
Nphp3	A	G	9: 104,025,903	E693G	possibly damaging	Het
Obscn	A	T	11: 59,003,665	Y1191*	probably null	Het
Olfr19	A	G	16: 16,673,205	Y259H	probably damaging	Het
Olfr398	A	T	11: 73,984,303	Y102N	probably damaging	Het
Olfr419	A	T	1: 174,250,736		probably null	Het
Osbpl10	A	G	9: 115,232,134	N760S	probably benign	Het
Otof	A	G	5: 30,461,770	V10A	probably benign	Het
Pkhd1l1	A	C	15: 44,501,457	E664A	probably damaging	Het
Pnp2	T	C	14: 50,963,704	S178P	probably damaging	Het
Pvr	G	A	7: 19,917,002	T199I	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rnaseh2b	T	C	14: 62,361,345	V173A	probably benign	Het
Sept12	C	T	16: 4,992,206	R155H	probably damaging	Het
Slco6d1	G	T	1: 98,443,660	R290L	probably benign	Het
Snx32	A	G	19: 5,496,129	V335A	probably damaging	Het
Son	T	C	16: 91,659,372	V1669A	possibly damaging	Het
Tbata	C	T	10: 61,179,284	T116I	probably benign	Het
Tdrd1	T	A	19: 56,842,589	S279T	probably benign	Het
Thsd7a	A	T	6: 12,471,073	Y515*	probably null	Het
Tmem102	T	G	11: 69,805,114	L40F	probably damaging	Het
Tmem169	A	G	1: 72,300,996	N195S	probably damaging	Het
Tmem201	A	T	4: 149,718,080	S613T	probably damaging	Het
Tnfaip6	A	T	2: 52,052,332	I218F	possibly damaging	Het
Tube1	C	A	10: 39,147,351	H331Q	probably benign	Het
Wwc1	G	A	11: 35,841,887	T998I	possibly damaging	Het
Xpc	A	T	6: 91,498,122	Y638*	probably null	Het
Zdhhc4	A	T	5: 143,324,262	Y80*	probably null	Het

Other mutations in Myo15b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Myo15b	APN	11	115891916	missense	possibly damaging	0.69
IGL01409:Myo15b	APN	11	115869504	nonsense	probably null
IGL01539:Myo15b	APN	11	115863473	missense	probably benign	0.43
IGL01895:Myo15b	APN	11	115883498	missense	possibly damaging	0.77
IGL02254:Myo15b	APN	11	115886283	missense	probably damaging	1.00
IGL02343:Myo15b	APN	11	115873400	unclassified	probably benign
IGL02349:Myo15b	APN	11	115863105	splice site	probably benign
IGL02368:Myo15b	APN	11	115877002	missense	probably benign	0.13
IGL02576:Myo15b	APN	11	115890053	missense	probably null	0.97
IGL02650:Myo15b	APN	11	115886511	critical splice donor site	probably null
IGL02661:Myo15b	APN	11	115884069	missense	probably benign	0.01
IGL02716:Myo15b	APN	11	115883709	missense	probably benign	0.06
IGL02733:Myo15b	APN	11	115884250	missense	probably benign	0.00
IGL02951:Myo15b	APN	11	115881301	missense	probably damaging	1.00
IGL03017:Myo15b	APN	11	115887917	missense	possibly damaging	0.91
IGL03029:Myo15b	APN	11	115871643	missense	probably benign	0.08
ANU74:Myo15b	UTSW	11	115878413	missense	probably damaging	1.00
R0092:Myo15b	UTSW	11	115862986	missense	possibly damaging	0.90
R0255:Myo15b	UTSW	11	115886283	missense	probably damaging	1.00
R0325:Myo15b	UTSW	11	115884265	missense	probably damaging	1.00
R0614:Myo15b	UTSW	11	115882913	missense	probably damaging	1.00
R0652:Myo15b	UTSW	11	115864642	missense	probably benign	0.07
R0711:Myo15b	UTSW	11	115883838	missense	probably damaging	1.00
R0815:Myo15b	UTSW	11	115866336	splice site	probably benign
R0961:Myo15b	UTSW	11	115882454	missense	probably benign	0.15
R1066:Myo15b	UTSW	11	115879751	missense	probably benign	0.03
R1221:Myo15b	UTSW	11	115886720	missense	possibly damaging	0.75
R1240:Myo15b	UTSW	11	115880501	missense	possibly damaging	0.70
R1275:Myo15b	UTSW	11	115883492	small deletion	probably benign
R1313:Myo15b	UTSW	11	115885129	missense	probably damaging	1.00
R1313:Myo15b	UTSW	11	115885129	missense	probably damaging	1.00
R1317:Myo15b	UTSW	11	115883634	missense	probably null	0.14
R1491:Myo15b	UTSW	11	115886857	splice site	probably null
R1552:Myo15b	UTSW	11	115866635	missense	probably benign	0.08
R1731:Myo15b	UTSW	11	115891560	missense	possibly damaging	0.57
R1800:Myo15b	UTSW	11	115880509	critical splice donor site	probably null
R1843:Myo15b	UTSW	11	115869586	missense	probably benign	0.04
R1888:Myo15b	UTSW	11	115887073	missense	probably damaging	1.00
R1888:Myo15b	UTSW	11	115887073	missense	probably damaging	1.00
R1894:Myo15b	UTSW	11	115887073	missense	probably damaging	1.00
R1917:Myo15b	UTSW	11	115882254	missense	possibly damaging	0.51
R1934:Myo15b	UTSW	11	115863484	missense	probably benign	0.30
R1939:Myo15b	UTSW	11	115887703	missense	probably benign	0.00
R1945:Myo15b	UTSW	11	115878398	missense	probably damaging	1.00
R1986:Myo15b	UTSW	11	115882875	missense	probably benign	0.31
R2130:Myo15b	UTSW	11	115871643	missense	probably benign	0.08
R2176:Myo15b	UTSW	11	115866572	missense	probably damaging	1.00
R2415:Myo15b	UTSW	11	115879564	missense	probably benign	0.00
R2483:Myo15b	UTSW	11	115864739	missense	probably benign	0.04
R3620:Myo15b	UTSW	11	115871187	missense	possibly damaging	0.46
R3716:Myo15b	UTSW	11	115863413	missense	probably benign	0.01
R4013:Myo15b	UTSW	11	115871456	nonsense	probably null
R4021:Myo15b	UTSW	11	115873505	missense	probably benign	0.07
R4119:Myo15b	UTSW	11	115873492	missense	probably benign	0.07
R4120:Myo15b	UTSW	11	115873492	missense	probably benign	0.07
R4499:Myo15b	UTSW	11	115890952	missense	probably benign	0.00
R4653:Myo15b	UTSW	11	115879987	critical splice donor site	probably null
R4655:Myo15b	UTSW	11	115890697	missense	probably damaging	1.00
R4700:Myo15b	UTSW	11	115861935	missense	possibly damaging	0.55
R4702:Myo15b	UTSW	11	115884008	missense	probably benign	0.01
R4777:Myo15b	UTSW	11	115879652	missense	probably damaging	0.99
R4833:Myo15b	UTSW	11	115887602	missense	possibly damaging	0.51
R5083:Myo15b	UTSW	11	115866656	missense	probably benign	0.01
R5121:Myo15b	UTSW	11	115886054	missense	probably damaging	1.00
R5146:Myo15b	UTSW	11	115891198	missense	probably benign	0.00
R5535:Myo15b	UTSW	11	115881301	missense	probably damaging	1.00
R5647:Myo15b	UTSW	11	115871511	missense	probably damaging	0.99
R5849:Myo15b	UTSW	11	115881933	missense	probably damaging	1.00
R5882:Myo15b	UTSW	11	115869596	missense	probably damaging	1.00
R5956:Myo15b	UTSW	11	115873757	missense	probably benign	0.34
R6273:Myo15b	UTSW	11	115862799	missense	possibly damaging	0.63
R6302:Myo15b	UTSW	11	115886239	missense	possibly damaging	0.88
R6318:Myo15b	UTSW	11	115890831	missense	probably damaging	1.00
R6462:Myo15b	UTSW	11	115859442	missense	probably benign	0.01
R6792:Myo15b	UTSW	11	115885097	missense	probably damaging	1.00
R6963:Myo15b	UTSW	11	115890714	splice site	probably null
R7015:Myo15b	UTSW	11	115871844	missense
R7020:Myo15b	UTSW	11	115866667	nonsense	probably null
R7096:Myo15b	UTSW	11	115891498	splice site	probably null
R7219:Myo15b	UTSW	11	115877095	critical splice donor site	probably null
R7400:Myo15b	UTSW	11	115860113	missense
R7413:Myo15b	UTSW	11	115878144	missense
R7483:Myo15b	UTSW	11	115858744	missense
R7523:Myo15b	UTSW	11	115890858	missense	unknown
R7737:Myo15b	UTSW	11	115887923	missense	unknown
R7784:Myo15b	UTSW	11	115861340	missense
R7842:Myo15b	UTSW	11	115871495	missense
R7921:Myo15b	UTSW	11	115887178	nonsense	probably null
R8065:Myo15b	UTSW	11	115887943	critical splice donor site	probably null
R8183:Myo15b	UTSW	11	115883017	splice site	probably null
R8193:Myo15b	UTSW	11	115885147	missense	probably damaging	1.00
R8237:Myo15b	UTSW	11	115877001	missense
R8430:Myo15b	UTSW	11	115882223	missense	probably benign	0.02
R8482:Myo15b	UTSW	11	115883257	nonsense	probably null
R8515:Myo15b	UTSW	11	115858784	missense
X0020:Myo15b	UTSW	11	115871799	critical splice acceptor site	probably null
Z1176:Myo15b	UTSW	11	115883452	missense	possibly damaging	0.81
Z1176:Myo15b	UTSW	11	115887925	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGTGAAGAAGCCGCTGAAG -3'
(R):5'- TAGCCAAAGCCTCATCCTTAG -3'

Sequencing Primer
(F):5'- CCGCTGAAGGCAAGCAG -3'
(R):5'- CTGAAAAGTTTTGATGGGCCTC -3'

Posted On

2014-10-01