Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Myo18a'

34418

Institutional Source

Beutler Lab

Gene Symbol

Myo18a

Ensembl Gene

ENSMUSG00000000631

Gene Name

myosin XVIIIA

Synonyms

MyoPDZ

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0064 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

77763246-77865980 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77847344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1704 (R1704L)

Ref Sequence

ENSEMBL: ENSMUSP00000130696 (fasta)

Gene Model

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

AlphaFold

Q9JMH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000000645
AA Change: R1657L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: R1657L

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 damaging
Transcript: ENSMUST00000092884
AA Change: R1325L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: R1325L

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 damaging
Transcript: ENSMUST00000092887
AA Change: R1656L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: R1656L

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

noncoding transcript
Transcript: ENSMUST00000100443

Predicted Effect

probably damaging
Transcript: ENSMUST00000100794
AA Change: R1321L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: R1321L

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 damaging
Transcript: ENSMUST00000102488
AA Change: R1656L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: R1656L

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 damaging
Transcript: ENSMUST00000108375
AA Change: R1656L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: R1656L

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 damaging
Transcript: ENSMUST00000108376
AA Change: R1619L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: R1619L

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 damaging
Transcript: ENSMUST00000130305
AA Change: R1337L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: R1337L

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 damaging
Transcript: ENSMUST00000130627
AA Change: R1668L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: R1668L

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 damaging
Transcript: ENSMUST00000164334
AA Change: R1325L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: R1325L

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 damaging
Transcript: ENSMUST00000167856
AA Change: R1263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: R1263L

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 damaging
Transcript: ENSMUST00000168348
AA Change: R1704L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: R1704L

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 damaging
Transcript: ENSMUST00000169105
AA Change: R1668L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: R1668L

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 damaging
Transcript: ENSMUST00000172303
AA Change: R1343L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: R1343L

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

Meta Mutation Damage Score

0.3357

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	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
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
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
R8685:Myo18a	UTSW	11	77854694	missense	probably benign	0.00
R8778:Myo18a	UTSW	11	77823324	missense	probably damaging	1.00
R9023:Myo18a	UTSW	11	77827651	missense	probably damaging	1.00
R9059:Myo18a	UTSW	11	77778073	missense	possibly damaging	0.78
R9186:Myo18a	UTSW	11	77859021	missense
R9321:Myo18a	UTSW	11	77842544	missense	probably damaging	0.97
R9357:Myo18a	UTSW	11	77842188	missense	probably damaging	1.00
R9407:Myo18a	UTSW	11	77818770	missense	probably benign	0.00
R9430:Myo18a	UTSW	11	77818584	missense	possibly damaging	0.64
R9576:Myo18a	UTSW	11	77819001	missense	probably damaging	1.00
R9585:Myo18a	UTSW	11	77818669	missense	probably benign	0.06
R9698:Myo18a	UTSW	11	77829855	missense	probably damaging	0.99
R9743:Myo18a	UTSW	11	77832478	missense	probably benign	0.10
R9777:Myo18a	UTSW	11	77842254	missense	possibly damaging	0.94
Y5407:Myo18a	UTSW	11	77777815	missense	probably benign	0.44
Z1177:Myo18a	UTSW	11	77841995	missense	probably damaging	1.00
Z1187:Myo18a	UTSW	11	77853817	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCTTTCTCGCTGGGCAGTACAATC -3'
(R):5'- GCCATGCTGTAGGGCATATACAGAC -3'

Sequencing Primer
(F):5'- GGGCAGTACAATCCTGTTATACC -3'
(R):5'- AGTGGCTTGTCCAGACATC -3'

Posted On

2013-05-09