Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02667:Myo18a'

302789

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 #

IGL02667

Quality Score

Status

Chromosome

Chromosomal Location

77763246-77865980 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 77857852 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] [ENSMUST00000169105] [ENSMUST00000172303]

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: ENSMUST00000130956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135045

Predicted Effect

probably benign
Transcript: ENSMUST00000135375

SMART Domains

Protein: ENSMUSP00000117044
Gene: ENSMUSG00000000631

Domain	Start	End	E-Value	Type
low complexity region	198	231	N/A	INTRINSIC
low complexity region	289	303	N/A	INTRINSIC
low complexity region	361	459	N/A	INTRINSIC
low complexity region	474	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142571

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: 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

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6530409C15Rik	A	G	6: 28,217,671		noncoding transcript	Het
Akr1e1	G	A	13: 4,595,667	P174L	possibly damaging	Het
Arf5	C	A	6: 28,425,199	N95K	probably damaging	Het
Atl3	T	C	19: 7,509,416	F39L	possibly damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cyp2a12	T	C	7: 27,031,158	S183P	probably damaging	Het
Dicer1	T	A	12: 104,714,906	R449S	probably damaging	Het
Dlec1	T	C	9: 119,127,466	I736T	probably benign	Het
Eny2	T	A	15: 44,429,588	M12K	possibly damaging	Het
Fbxl21	C	T	13: 56,537,129	R349C	probably benign	Het
Gstm2	A	G	3: 107,986,108	L13P	probably damaging	Het
Gucy2g	G	A	19: 55,206,177	T936M	possibly damaging	Het
Mbp	G	T	18: 82,554,615	K12N	probably damaging	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Nr2f2	T	C	7: 70,357,985	S117G	probably damaging	Het
Pi4k2b	T	C	5: 52,750,605		probably benign	Het
Pi4ka	A	G	16: 17,295,461	F1504L	possibly damaging	Het
Ppm1d	T	C	11: 85,332,285	W239R	probably damaging	Het
Setd1b	T	A	5: 123,157,497	S1043T	unknown	Het
Tgfbrap1	T	C	1: 43,067,620	I298V	probably benign	Het
Tmem190	T	A	7: 4,783,158	D20E	probably benign	Het
Tph2	A	T	10: 115,080,045	C408S	probably benign	Het
Trmt44	A	C	5: 35,571,052	Y295D	probably damaging	Het
Trpm2	C	T	10: 77,935,942	R621H	probably damaging	Het
Ubn1	A	G	16: 5,062,599	E134G	probably damaging	Het
Zcchc11	T	C	4: 108,558,708		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
IGL02869:Myo18a	APN	11	77864786	missense	probably damaging	1.00
IGL02869:Myo18a	APN	11	77829873	splice site	probably benign
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	intron	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	unclassified	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
Y5407:Myo18a	UTSW	11	77777815	missense	probably benign	0.44

Posted On

2015-04-16