Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02869:Myo18a'

362504

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo18a

Ensembl Gene

ENSMUSG00000000631

Gene Name

myosin XVIIIA

Synonyms

MyoPDZ

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

77763246-77865980 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 77829873 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000645] [ENSMUST00000092884] [ENSMUST00000092887] [ENSMUST00000100794] [ENSMUST00000102488] [ENSMUST00000108375] [ENSMUST00000108376] [ENSMUST00000130305] [ENSMUST00000130627] [ENSMUST00000164334] [ENSMUST00000167856] [ENSMUST00000168348] [ENSMUST00000172303] [ENSMUST00000169105]

Predicted Effect

probably benign
Transcript: ENSMUST00000000645

SMART Domains

Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	399	1183	1.53e-45	SMART
IQ	1184	1206	1.11e-3	SMART
Pfam:Myosin_tail_1	1219	1867	1.7e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092884

SMART Domains

Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
MYSc	68	851	4.16e-47	SMART
IQ	852	874	1.11e-3	SMART
Pfam:Myosin_tail_1	888	1534	2e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092887

SMART Domains

Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	399	1182	4.16e-47	SMART
IQ	1183	1205	1.11e-3	SMART
Pfam:Myosin_tail_1	1218	1866	3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100794

SMART Domains

Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
MYSc	68	847	1.45e-46	SMART
IQ	848	870	1.11e-3	SMART
Pfam:Myosin_tail_1	884	1530	4.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102488

SMART Domains

Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	399	1182	4.16e-47	SMART
IQ	1183	1205	1.11e-3	SMART
Pfam:Myosin_tail_1	1218	1866	3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108375

SMART Domains

Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	399	1182	4.16e-47	SMART
IQ	1183	1205	1.11e-3	SMART
Pfam:Myosin_tail_1	1218	1838	6.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108376

SMART Domains

Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	399	1182	4.16e-47	SMART
IQ	1183	1205	1.11e-3	SMART
Blast:MYSc	1258	1387	1e-14	BLAST
low complexity region	1396	1407	N/A	INTRINSIC
low complexity region	1743	1762	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130305

SMART Domains

Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
MYSc	80	863	4.16e-47	SMART
IQ	864	886	1.11e-3	SMART
Pfam:Myosin_tail_1	902	1547	2.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130627

SMART Domains

Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	411	1194	4.16e-47	SMART
IQ	1195	1217	1.11e-3	SMART
Pfam:Myosin_tail_1	1230	1850	6.9e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154892

Predicted Effect

probably benign
Transcript: ENSMUST00000164334

SMART Domains

Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
MYSc	68	851	4.16e-47	SMART
IQ	852	874	1.11e-3	SMART
Pfam:Myosin_tail_1	888	1505	4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167856

SMART Domains

Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
MYSc	16	789	1.3e-32	SMART
IQ	790	812	1.11e-3	SMART
Blast:MYSc	865	994	1e-14	BLAST
low complexity region	1003	1014	N/A	INTRINSIC
low complexity region	1387	1406	N/A	INTRINSIC
internal_repeat_1	1569	1627	2.13e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000168348

SMART Domains

Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	447	1230	4.16e-47	SMART
IQ	1231	1253	1.11e-3	SMART
Blast:MYSc	1306	1435	1e-14	BLAST
low complexity region	1444	1455	N/A	INTRINSIC
low complexity region	1828	1847	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172303

SMART Domains

Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
MYSc	80	863	4.16e-47	SMART
IQ	864	886	1.11e-3	SMART
Pfam:Myosin_tail_1	902	1547	2.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169105

SMART Domains

Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	202	227	N/A	INTRINSIC
PDZ	229	311	5.72e-10	SMART
MYSc	411	1194	4.16e-47	SMART
IQ	1195	1217	1.11e-3	SMART
Pfam:Myosin_tail_1	1230	1878	7.3e-35	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,867,459	S1142T	possibly damaging	Het
5330417C22Rik	A	G	3: 108,472,866	I309T	probably benign	Het
Actr3b	T	G	5: 25,832,435	V215G	probably damaging	Het
Adam9	C	T	8: 24,970,618	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,890,605	P32T	probably damaging	Het
Ago3	A	T	4: 126,367,787		probably benign	Het
Allc	A	C	12: 28,573,207	I20M	probably benign	Het
Asic3	G	A	5: 24,416,974	W361*	probably null	Het
Atf7ip	A	G	6: 136,606,579	K1203E	probably damaging	Het
Babam2	C	A	5: 32,004,772	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,977,528	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,890,393	Y146*	probably null	Het
C530008M17Rik	A	G	5: 76,859,043	K1084E	unknown	Het
Cd247	A	G	1: 165,857,417	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,476,541	D76G	probably benign	Het
Cela3a	T	C	4: 137,403,834	K198E	probably benign	Het
Ces2a	T	A	8: 104,739,059	D281E	probably damaging	Het
Cetn2	A	T	X: 72,914,921	D116E	probably damaging	Het
Ctu2	G	T	8: 122,478,791		probably null	Het
Cybb	T	C	X: 9,442,589	N469D	probably benign	Het
Cygb	C	T	11: 116,649,923	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,403,868	V186M	possibly damaging	Het
Defb29	T	A	2: 152,539,022		probably null	Het
Depdc7	T	G	2: 104,730,349	Q100P	probably damaging	Het
Dhx30	A	C	9: 110,097,183	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,341,424	K105*	probably null	Het
Efhc1	T	C	1: 20,967,343	I248T	probably damaging	Het
Entpd2	A	G	2: 25,398,108	T115A	probably damaging	Het
Epb42	G	T	2: 121,025,746	A439E	probably benign	Het
Epp13	T	C	7: 6,269,899		probably benign	Het
Esm1	T	G	13: 113,210,084	L81R	probably damaging	Het
F8	T	C	X: 75,287,381	S968G	probably benign	Het
Fam234b	T	G	6: 135,225,203	Y308D	probably damaging	Het
Fbxo46	T	G	7: 19,137,214	V586G	probably damaging	Het
Foxp1	C	A	6: 98,930,083		probably benign	Het
Gm10754	A	T	10: 97,682,274		probably benign	Het
Gm12355	T	A	11: 98,625,320	R76*	probably null	Het
Gm12695	A	C	4: 96,762,133		probably benign	Het
Gm438	T	C	4: 144,786,368	I54V	probably benign	Het
Gm5468	T	C	15: 25,414,640		probably benign	Het
Grhl1	T	C	12: 24,581,491	S66P	probably damaging	Het
Gstt3	A	T	10: 75,776,742		probably null	Het
Gtf2i	A	G	5: 134,279,427		probably benign	Het
Gzmk	C	A	13: 113,172,026	G175C	probably damaging	Het
Helz2	T	C	2: 181,231,146		probably benign	Het
Ift20	T	C	11: 78,539,954		probably benign	Het
Intu	A	G	3: 40,687,786	D491G	probably damaging	Het
Itch	G	T	2: 155,173,933		probably null	Het
Itgb5	A	G	16: 33,844,992	N26S	possibly damaging	Het
Lama2	A	T	10: 27,015,538	S2526R	probably damaging	Het
Lat2	A	G	5: 134,608,173	I40T	probably damaging	Het
Lipa	T	A	19: 34,493,997	M393L	probably benign	Het
Lipa	G	T	19: 34,493,971		probably benign	Het
Lpcat1	T	A	13: 73,484,298	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,703,007	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,701,830	N50K	unknown	Het
Lrrk2	T	A	15: 91,750,277	Y1415N	probably damaging	Het
Lsamp	A	T	16: 42,144,715	T312S	probably benign	Het
Man2a2	T	C	7: 80,363,941	E454G	probably benign	Het
Mcm3	T	C	1: 20,808,839	K570R	probably damaging	Het
Mctp2	C	A	7: 72,228,471		probably null	Het
Msantd2	T	G	9: 37,523,500	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078	I362T	probably benign	Het
Myh15	A	T	16: 49,145,404	N1224I	probably benign	Het
Myrfl	G	T	10: 116,829,004	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,946,497	Q87H	probably benign	Het
Nol9	G	A	4: 152,046,573	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,708,129	S219P	probably benign	Het
Olfr902	T	C	9: 38,449,193	F107S	possibly damaging	Het
Olfr945	A	T	9: 39,258,224	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,498,637	D495G	probably damaging	Het
Pfkm	A	G	15: 98,128,242	M573V	probably damaging	Het
Plec	A	T	15: 76,181,316	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,915,267	E47*	probably null	Het
Rbm33	T	A	5: 28,410,755	I32N	probably damaging	Het
Rgs12	A	T	5: 35,025,883	D310V	probably damaging	Het
Ripor2	A	C	13: 24,696,529	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,162,241	E124G	probably benign	Het
Shroom2	C	T	X: 152,659,553	S872N	probably benign	Het
Slc44a5	A	G	3: 154,251,014	Y301C	probably damaging	Het
Smap1	A	T	1: 23,891,914	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,221,023		probably benign	Het
Spata5	G	T	3: 37,464,545	G743W	probably damaging	Het
Sptbn4	T	A	7: 27,394,148		probably benign	Het
Stag3	A	G	5: 138,282,693	K49R	probably damaging	Het
Stim1	C	A	7: 102,268,551	A46E	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,835,217	T114A	probably benign	Het
Tln2	G	A	9: 67,221,525		probably benign	Het
Tmem2	T	A	19: 21,811,877	D558E	probably damaging	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Vwde	G	A	6: 13,187,137	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,134,233	T121A	probably benign	Het

Other mutations in Myo18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Myo18a	APN	11	77847938	missense	probably damaging	1.00
IGL00753:Myo18a	APN	11	77825151	missense	probably damaging	1.00
IGL01137:Myo18a	APN	11	77827829	missense	probably damaging	1.00
IGL01536:Myo18a	APN	11	77820851	missense	probably damaging	1.00
IGL01642:Myo18a	APN	11	77864732	missense	probably benign	0.07
IGL01728:Myo18a	APN	11	77777856	missense	probably damaging	0.99
IGL01780:Myo18a	APN	11	77850247	missense	probably benign	0.02
IGL02286:Myo18a	APN	11	77777985	nonsense	probably null
IGL02350:Myo18a	APN	11	77850247	missense	probably benign	0.02
IGL02357:Myo18a	APN	11	77850247	missense	probably benign	0.02
IGL02420:Myo18a	APN	11	77818693	missense	possibly damaging	0.81
IGL02643:Myo18a	APN	11	77778172	missense	possibly damaging	0.67
IGL02667:Myo18a	APN	11	77857852	splice site	probably benign
IGL02869:Myo18a	APN	11	77864786	missense	probably damaging	1.00
IGL02962:Myo18a	APN	11	77778235	missense	probably damaging	1.00
IGL02963:Myo18a	APN	11	77842018	splice site	probably benign
IGL03410:Myo18a	APN	11	77848004	missense	probably damaging	0.99
IGL03050:Myo18a	UTSW	11	77818770	missense	probably benign	0.00
R0022:Myo18a	UTSW	11	77843233	critical splice donor site	probably null
R0064:Myo18a	UTSW	11	77847344	missense	probably damaging	1.00
R0064:Myo18a	UTSW	11	77847344	missense	probably damaging	1.00
R0098:Myo18a	UTSW	11	77845765	missense	probably damaging	1.00
R0322:Myo18a	UTSW	11	77829800	missense	probably damaging	1.00
R0373:Myo18a	UTSW	11	77821042	missense	probably benign	0.01
R0379:Myo18a	UTSW	11	77850806	missense	possibly damaging	0.84
R0513:Myo18a	UTSW	11	77811594	intron	probably benign
R0688:Myo18a	UTSW	11	77824140	missense	probably damaging	1.00
R0734:Myo18a	UTSW	11	77847404	missense	probably damaging	1.00
R0790:Myo18a	UTSW	11	77840709	missense	possibly damaging	0.95
R1099:Myo18a	UTSW	11	77818901	splice site	probably null
R1103:Myo18a	UTSW	11	77823330	missense	probably damaging	1.00
R1183:Myo18a	UTSW	11	77857745	missense	probably damaging	1.00
R1216:Myo18a	UTSW	11	77818647	missense	probably benign	0.35
R1331:Myo18a	UTSW	11	77841579	missense	probably benign	0.28
R1479:Myo18a	UTSW	11	77842194	missense	probably benign	0.04
R1723:Myo18a	UTSW	11	77853314	missense	probably damaging	0.97
R1742:Myo18a	UTSW	11	77841467	missense	probably damaging	0.99
R1796:Myo18a	UTSW	11	77829344	missense	possibly damaging	0.94
R1823:Myo18a	UTSW	11	77825097	splice site	probably benign
R1827:Myo18a	UTSW	11	77818771	missense	probably benign	0.00
R2033:Myo18a	UTSW	11	77843099	splice site	probably null
R2043:Myo18a	UTSW	11	77823363	missense	probably damaging	0.99
R2105:Myo18a	UTSW	11	77850234	missense	probably benign
R2191:Myo18a	UTSW	11	77818615	missense	probably damaging	0.99
R2264:Myo18a	UTSW	11	77819972	splice site	probably benign
R2370:Myo18a	UTSW	11	77777770	missense	probably benign	0.03
R3015:Myo18a	UTSW	11	77859020	intron	probably benign
R3433:Myo18a	UTSW	11	77818044	splice site	probably null
R3739:Myo18a	UTSW	11	77845615	missense	probably damaging	1.00
R3825:Myo18a	UTSW	11	77777466	missense	possibly damaging	0.47
R4056:Myo18a	UTSW	11	77812013	missense	possibly damaging	0.72
R4163:Myo18a	UTSW	11	77829708	missense	possibly damaging	0.72
R4184:Myo18a	UTSW	11	77857787	missense	probably damaging	1.00
R4620:Myo18a	UTSW	11	77817947	missense	possibly damaging	0.93
R4628:Myo18a	UTSW	11	77824136	missense	probably damaging	1.00
R4647:Myo18a	UTSW	11	77817950	missense	probably damaging	1.00
R4701:Myo18a	UTSW	11	77817665	missense	probably damaging	1.00
R4729:Myo18a	UTSW	11	77777685	splice site	probably null
R4731:Myo18a	UTSW	11	77829759	missense	probably benign	0.00
R4739:Myo18a	UTSW	11	77823323	missense	probably damaging	1.00
R4814:Myo18a	UTSW	11	77859236	intron	probably benign
R4889:Myo18a	UTSW	11	77832412	missense	probably damaging	1.00
R4988:Myo18a	UTSW	11	77845521	critical splice donor site	probably null
R5172:Myo18a	UTSW	11	77824098	missense	probably damaging	1.00
R5177:Myo18a	UTSW	11	77864842	utr 3 prime	probably benign
R5394:Myo18a	UTSW	11	77853350	missense	probably benign	0.14
R5643:Myo18a	UTSW	11	77854687	missense	probably benign	0.12
R5808:Myo18a	UTSW	11	77829301	missense	probably benign	0.34
R5871:Myo18a	UTSW	11	77832480	missense	probably damaging	1.00
R5936:Myo18a	UTSW	11	77818213	missense	probably damaging	1.00
R6017:Myo18a	UTSW	11	77841523	missense	probably damaging	0.96
R6053:Myo18a	UTSW	11	77818176	missense	probably damaging	1.00
R6271:Myo18a	UTSW	11	77820809	missense	probably damaging	1.00
R6486:Myo18a	UTSW	11	77864822	missense	possibly damaging	0.83
R6558:Myo18a	UTSW	11	77850852	missense	probably damaging	0.99
R6884:Myo18a	UTSW	11	77819049	missense	possibly damaging	0.67
R6983:Myo18a	UTSW	11	77845515	missense	probably benign	0.06
R6993:Myo18a	UTSW	11	77859074	intron	probably benign
R7071:Myo18a	UTSW	11	77823827	missense	probably damaging	1.00
R7074:Myo18a	UTSW	11	77842561	missense	probably benign	0.03
R7238:Myo18a	UTSW	11	77842233	missense	probably damaging	0.96
R7328:Myo18a	UTSW	11	77807911	missense
R7527:Myo18a	UTSW	11	77843580	missense	probably benign	0.00
R7598:Myo18a	UTSW	11	77847346	missense	probably damaging	1.00
R7671:Myo18a	UTSW	11	77859420	missense
R7958:Myo18a	UTSW	11	77841557	missense	probably damaging	1.00
R8098:Myo18a	UTSW	11	77845401	missense	probably damaging	0.97
R8168:Myo18a	UTSW	11	77821142	missense	probably damaging	0.99
R8318:Myo18a	UTSW	11	77823389	missense	probably benign	0.02
Y5407:Myo18a	UTSW	11	77777815	missense	probably benign	0.44
Z1177:Myo18a	UTSW	11	77841995	missense	probably damaging	1.00

Posted On

2015-12-18