Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Myo18a'

18065

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

Status

Validated

Chromosome

Chromosomal Location

77654072-77756806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77738170 bp (GRCm39)

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] [ENSMUST00000168348] [ENSMUST00000130627] [ENSMUST00000169105] [ENSMUST00000164334] [ENSMUST00000167856] [ENSMUST00000108376] [ENSMUST00000172303] [ENSMUST00000130305]

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: 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: 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

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: 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: 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: 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

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

noncoding transcript
Transcript: ENSMUST00000130956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135045

Meta Mutation Damage Score

0.3357

Coding Region Coverage

1x: 87.7%
3x: 83.1%
10x: 65.7%
20x: 35.9%

Validation Efficiency

92% (56/61)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,180,907 (GRCm39)	D101G	probably benign	Het
Cep126	A	T	9: 8,130,183 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Cul1	A	G	6: 47,479,349 (GRCm39)		probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Gm270	C	A	13: 49,919,367 (GRCm39)		noncoding transcript	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het

Other mutations in Myo18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Myo18a	APN	11	77,738,764 (GRCm39)	missense	probably damaging	1.00
IGL00753:Myo18a	APN	11	77,715,977 (GRCm39)	missense	probably damaging	1.00
IGL01137:Myo18a	APN	11	77,718,655 (GRCm39)	missense	probably damaging	1.00
IGL01536:Myo18a	APN	11	77,711,677 (GRCm39)	missense	probably damaging	1.00
IGL01642:Myo18a	APN	11	77,755,558 (GRCm39)	missense	probably benign	0.07
IGL01728:Myo18a	APN	11	77,668,682 (GRCm39)	missense	probably damaging	0.99
IGL01780:Myo18a	APN	11	77,741,073 (GRCm39)	missense	probably benign	0.02
IGL02286:Myo18a	APN	11	77,668,811 (GRCm39)	nonsense	probably null
IGL02350:Myo18a	APN	11	77,741,073 (GRCm39)	missense	probably benign	0.02
IGL02357:Myo18a	APN	11	77,741,073 (GRCm39)	missense	probably benign	0.02
IGL02420:Myo18a	APN	11	77,709,519 (GRCm39)	missense	possibly damaging	0.81
IGL02643:Myo18a	APN	11	77,668,998 (GRCm39)	missense	possibly damaging	0.67
IGL02667:Myo18a	APN	11	77,748,678 (GRCm39)	splice site	probably benign
IGL02869:Myo18a	APN	11	77,720,699 (GRCm39)	splice site	probably benign
IGL02869:Myo18a	APN	11	77,755,612 (GRCm39)	missense	probably damaging	1.00
IGL02962:Myo18a	APN	11	77,669,061 (GRCm39)	missense	probably damaging	1.00
IGL02963:Myo18a	APN	11	77,732,844 (GRCm39)	splice site	probably benign
IGL03410:Myo18a	APN	11	77,738,830 (GRCm39)	missense	probably damaging	0.99
IGL03050:Myo18a	UTSW	11	77,709,596 (GRCm39)	missense	probably benign	0.00
R0022:Myo18a	UTSW	11	77,734,059 (GRCm39)	critical splice donor site	probably null
R0064:Myo18a	UTSW	11	77,738,170 (GRCm39)	missense	probably damaging	1.00
R0098:Myo18a	UTSW	11	77,736,591 (GRCm39)	missense	probably damaging	1.00
R0322:Myo18a	UTSW	11	77,720,626 (GRCm39)	missense	probably damaging	1.00
R0373:Myo18a	UTSW	11	77,711,868 (GRCm39)	missense	probably benign	0.01
R0379:Myo18a	UTSW	11	77,741,632 (GRCm39)	missense	possibly damaging	0.84
R0513:Myo18a	UTSW	11	77,702,420 (GRCm39)	intron	probably benign
R0688:Myo18a	UTSW	11	77,714,966 (GRCm39)	missense	probably damaging	1.00
R0734:Myo18a	UTSW	11	77,738,230 (GRCm39)	missense	probably damaging	1.00
R0790:Myo18a	UTSW	11	77,731,535 (GRCm39)	missense	possibly damaging	0.95
R1099:Myo18a	UTSW	11	77,709,727 (GRCm39)	splice site	probably null
R1103:Myo18a	UTSW	11	77,714,156 (GRCm39)	missense	probably damaging	1.00
R1183:Myo18a	UTSW	11	77,748,571 (GRCm39)	missense	probably damaging	1.00
R1216:Myo18a	UTSW	11	77,709,473 (GRCm39)	missense	probably benign	0.35
R1331:Myo18a	UTSW	11	77,732,405 (GRCm39)	missense	probably benign	0.28
R1479:Myo18a	UTSW	11	77,733,020 (GRCm39)	missense	probably benign	0.04
R1723:Myo18a	UTSW	11	77,744,140 (GRCm39)	missense	probably damaging	0.97
R1742:Myo18a	UTSW	11	77,732,293 (GRCm39)	missense	probably damaging	0.99
R1796:Myo18a	UTSW	11	77,720,170 (GRCm39)	missense	possibly damaging	0.94
R1823:Myo18a	UTSW	11	77,715,923 (GRCm39)	splice site	probably benign
R1827:Myo18a	UTSW	11	77,709,597 (GRCm39)	missense	probably benign	0.00
R2033:Myo18a	UTSW	11	77,733,925 (GRCm39)	splice site	probably null
R2043:Myo18a	UTSW	11	77,714,189 (GRCm39)	missense	probably damaging	0.99
R2105:Myo18a	UTSW	11	77,741,060 (GRCm39)	missense	probably benign
R2191:Myo18a	UTSW	11	77,709,441 (GRCm39)	missense	probably damaging	0.99
R2264:Myo18a	UTSW	11	77,710,798 (GRCm39)	splice site	probably benign
R2370:Myo18a	UTSW	11	77,668,596 (GRCm39)	missense	probably benign	0.03
R3015:Myo18a	UTSW	11	77,749,846 (GRCm39)	intron	probably benign
R3433:Myo18a	UTSW	11	77,708,870 (GRCm39)	splice site	probably null
R3739:Myo18a	UTSW	11	77,736,441 (GRCm39)	missense	probably damaging	1.00
R3825:Myo18a	UTSW	11	77,668,292 (GRCm39)	missense	possibly damaging	0.47
R4056:Myo18a	UTSW	11	77,702,839 (GRCm39)	missense	possibly damaging	0.72
R4163:Myo18a	UTSW	11	77,720,534 (GRCm39)	missense	possibly damaging	0.72
R4184:Myo18a	UTSW	11	77,748,613 (GRCm39)	missense	probably damaging	1.00
R4620:Myo18a	UTSW	11	77,708,773 (GRCm39)	missense	possibly damaging	0.93
R4628:Myo18a	UTSW	11	77,714,962 (GRCm39)	missense	probably damaging	1.00
R4647:Myo18a	UTSW	11	77,708,776 (GRCm39)	missense	probably damaging	1.00
R4701:Myo18a	UTSW	11	77,708,491 (GRCm39)	missense	probably damaging	1.00
R4729:Myo18a	UTSW	11	77,668,511 (GRCm39)	splice site	probably null
R4731:Myo18a	UTSW	11	77,720,585 (GRCm39)	missense	probably benign	0.00
R4739:Myo18a	UTSW	11	77,714,149 (GRCm39)	missense	probably damaging	1.00
R4814:Myo18a	UTSW	11	77,750,062 (GRCm39)	intron	probably benign
R4889:Myo18a	UTSW	11	77,723,238 (GRCm39)	missense	probably damaging	1.00
R4988:Myo18a	UTSW	11	77,736,347 (GRCm39)	critical splice donor site	probably null
R5172:Myo18a	UTSW	11	77,714,924 (GRCm39)	missense	probably damaging	1.00
R5177:Myo18a	UTSW	11	77,755,668 (GRCm39)	utr 3 prime	probably benign
R5394:Myo18a	UTSW	11	77,744,176 (GRCm39)	missense	probably benign	0.14
R5643:Myo18a	UTSW	11	77,745,513 (GRCm39)	missense	probably benign	0.12
R5808:Myo18a	UTSW	11	77,720,127 (GRCm39)	missense	probably benign	0.34
R5871:Myo18a	UTSW	11	77,723,306 (GRCm39)	missense	probably damaging	1.00
R5936:Myo18a	UTSW	11	77,709,039 (GRCm39)	missense	probably damaging	1.00
R6017:Myo18a	UTSW	11	77,732,349 (GRCm39)	missense	probably damaging	0.96
R6053:Myo18a	UTSW	11	77,709,002 (GRCm39)	missense	probably damaging	1.00
R6271:Myo18a	UTSW	11	77,711,635 (GRCm39)	missense	probably damaging	1.00
R6486:Myo18a	UTSW	11	77,755,648 (GRCm39)	missense	possibly damaging	0.83
R6558:Myo18a	UTSW	11	77,741,678 (GRCm39)	missense	probably damaging	0.99
R6884:Myo18a	UTSW	11	77,709,875 (GRCm39)	missense	possibly damaging	0.67
R6983:Myo18a	UTSW	11	77,736,341 (GRCm39)	missense	probably benign	0.06
R6993:Myo18a	UTSW	11	77,749,900 (GRCm39)	intron	probably benign
R7071:Myo18a	UTSW	11	77,714,653 (GRCm39)	missense	probably damaging	1.00
R7074:Myo18a	UTSW	11	77,733,387 (GRCm39)	missense	probably benign	0.03
R7238:Myo18a	UTSW	11	77,733,059 (GRCm39)	missense	probably damaging	0.96
R7328:Myo18a	UTSW	11	77,698,737 (GRCm39)	missense
R7527:Myo18a	UTSW	11	77,734,406 (GRCm39)	missense	probably benign	0.00
R7598:Myo18a	UTSW	11	77,738,172 (GRCm39)	missense	probably damaging	1.00
R7671:Myo18a	UTSW	11	77,750,246 (GRCm39)	missense
R7958:Myo18a	UTSW	11	77,732,383 (GRCm39)	missense	probably damaging	1.00
R8098:Myo18a	UTSW	11	77,736,227 (GRCm39)	missense	probably damaging	0.97
R8168:Myo18a	UTSW	11	77,711,968 (GRCm39)	missense	probably damaging	0.99
R8318:Myo18a	UTSW	11	77,714,215 (GRCm39)	missense	probably benign	0.02
R8685:Myo18a	UTSW	11	77,745,520 (GRCm39)	missense	probably benign	0.00
R8778:Myo18a	UTSW	11	77,714,150 (GRCm39)	missense	probably damaging	1.00
R9023:Myo18a	UTSW	11	77,718,477 (GRCm39)	missense	probably damaging	1.00
R9059:Myo18a	UTSW	11	77,668,899 (GRCm39)	missense	possibly damaging	0.78
R9186:Myo18a	UTSW	11	77,749,847 (GRCm39)	missense
R9321:Myo18a	UTSW	11	77,733,370 (GRCm39)	missense	probably damaging	0.97
R9357:Myo18a	UTSW	11	77,733,014 (GRCm39)	missense	probably damaging	1.00
R9407:Myo18a	UTSW	11	77,709,596 (GRCm39)	missense	probably benign	0.00
R9430:Myo18a	UTSW	11	77,709,410 (GRCm39)	missense	possibly damaging	0.64
R9576:Myo18a	UTSW	11	77,709,827 (GRCm39)	missense	probably damaging	1.00
R9585:Myo18a	UTSW	11	77,709,495 (GRCm39)	missense	probably benign	0.06
R9698:Myo18a	UTSW	11	77,720,681 (GRCm39)	missense	probably damaging	0.99
R9743:Myo18a	UTSW	11	77,723,304 (GRCm39)	missense	probably benign	0.10
R9777:Myo18a	UTSW	11	77,733,080 (GRCm39)	missense	possibly damaging	0.94
Y5407:Myo18a	UTSW	11	77,668,641 (GRCm39)	missense	probably benign	0.44
Z1177:Myo18a	UTSW	11	77,732,821 (GRCm39)	missense	probably damaging	1.00
Z1187:Myo18a	UTSW	11	77,744,643 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-03-25