Mutagenetix > Incidental Mutations

Incidental Mutation 'R3620:Myo15b'

268610

Institutional Source

Beutler Lab

Gene Symbol

Myo15b

Ensembl Gene

ENSMUSG00000034427

Gene Name

myosin XVB

Synonyms

LOC217328, E330039G21Rik, LOC380737

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115858406-115892603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115871187 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1176 (L1176R)

Ref Sequence

ENSEMBL: ENSMUSP00000091439 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093911
AA Change: L1176R

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427
AA Change: L1176R

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,008,032	M473T	probably benign	Het
Asxl1	C	A	2: 153,357,155	R76S	probably damaging	Het
Bhlhe41	C	A	6: 145,863,007	G360C	possibly damaging	Het
Ccdc88a	T	C	11: 29,430,227	I201T	probably benign	Het
Ccng1	T	C	11: 40,752,165	T152A	probably benign	Het
Cep192	T	C	18: 67,829,857	V648A	probably benign	Het
Cldn16	T	A	16: 26,477,552	F93I	possibly damaging	Het
Csmd1	T	C	8: 15,992,684	S2350G	probably benign	Het
Enpp6	T	C	8: 47,065,505	W223R	probably benign	Het
Fah	T	C	7: 84,588,951		probably null	Het
Fat2	A	T	11: 55,256,695	V3907D	probably damaging	Het
Fsip2	C	A	2: 82,980,258	T2307K	probably benign	Het
Gcg	T	C	2: 62,476,935	E94G	probably damaging	Het
Gramd1b	C	A	9: 40,455,546	R42L	probably benign	Het
Hdc	T	A	2: 126,616,267	Y45F	possibly damaging	Het
Hist1h2bh	C	A	13: 23,543,154	V67L	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Igsf10	T	G	3: 59,336,331	D194A	probably damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lrpprc	A	T	17: 84,770,024	C412S	probably benign	Het
Mga	T	A	2: 119,916,668	D433E	probably damaging	Het
Myo15	A	T	11: 60,478,642	S743C	possibly damaging	Het
Ndor1	T	C	2: 25,248,035	Q526R	probably damaging	Het
Nipbl	A	G	15: 8,333,024	I1429T	probably damaging	Het
Olfr1261	T	C	2: 89,993,852	I153T	probably damaging	Het
Olfr1282	T	A	2: 111,335,344	I245L	probably benign	Het
Olfr412	T	A	11: 74,365,224	L185Q	probably damaging	Het
Otogl	T	C	10: 107,874,371	D619G	probably damaging	Het
Pa2g4	C	G	10: 128,563,595	E67Q	probably damaging	Het
Pnpla1	C	T	17: 28,877,388	A147V	probably damaging	Het
Prdm13	A	G	4: 21,683,532	Y143H	unknown	Het
Rad23a	A	G	8: 84,840,564	M1T	probably null	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Slc10a2	A	T	8: 5,104,909	I92N	probably damaging	Het
Slc24a4	T	C	12: 102,218,963	F111L	probably damaging	Het
Sox11	T	C	12: 27,341,736	T225A	probably benign	Het
Thbs1	T	C	2: 118,121,159	V820A	probably benign	Het
Unc45a	G	T	7: 80,334,051	N332K	possibly damaging	Het
Vmn1r159	A	C	7: 22,842,833	I258S	possibly damaging	Het
Wdr31	A	T	4: 62,457,464	F251L	possibly damaging	Het
Wdr43	C	T	17: 71,650,606	T530M	probably benign	Het
Zfp445	C	T	9: 122,852,768	A703T	probably benign	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
R2138:Myo15b	UTSW	11	115883807	missense	probably benign	0.00
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
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'- AACCATCCTGAGTTTTCTGTGG -3'
(R):5'- ATGGGTCTCAGCTGTTTCCATC -3'

Sequencing Primer
(F):5'- CCATCCTGAGTTTTCTGTGGAGAAAG -3'
(R):5'- AGCTGTTTCCATCCCGGG -3'

Posted On

2015-02-19