Mutagenetix > Incidental Mutation

Incidental Mutation 'R4056:Myo18a'

475403

Institutional Source

Beutler Lab

Gene Symbol

Myo18a

Ensembl Gene

ENSMUSG00000000631

Gene Name

myosin XVIIIA

Synonyms

MyoPDZ

MMRRC Submission

041617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77654072-77756806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77702839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 5 (E5G)

Ref Sequence

ENSEMBL: ENSMUSP00000128487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000645] [ENSMUST00000092884] [ENSMUST00000092887] [ENSMUST00000100794] [ENSMUST00000102488] [ENSMUST00000108375] [ENSMUST00000108376] [ENSMUST00000167856] [ENSMUST00000151373] [ENSMUST00000168348] [ENSMUST00000164334] [ENSMUST00000169105] [ENSMUST00000172303] [ENSMUST00000130305] [ENSMUST00000130627]

AlphaFold

Q9JMH9

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

possibly damaging
Transcript: ENSMUST00000167856
AA Change: E5G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: E5G

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

unknown
Transcript: ENSMUST00000151373
AA Change: E34G

SMART Domains

Protein: ENSMUSP00000123256
Gene: ENSMUSG00000000631
AA Change: E34G

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
Blast:MYSc	45	89	3e-19	BLAST
low complexity region	90	105	N/A	INTRINSIC
internal_repeat_1	115	134	4.34e-5	PROSPERO
low complexity region	135	164	N/A	INTRINSIC
internal_repeat_1	188	209	4.34e-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: 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: 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

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	A	11: 80,266,329 (GRCm39)		probably benign	Het
Abcf1	A	G	17: 36,270,807 (GRCm39)	I510T	possibly damaging	Het
Adamts18	T	A	8: 114,464,212 (GRCm39)	K749*	probably null	Het
Alms1	A	G	6: 85,564,785 (GRCm39)	E53G	unknown	Het
Bmper	A	G	9: 23,310,925 (GRCm39)	H453R	probably benign	Het
Btg1	T	A	10: 96,454,216 (GRCm39)	M1K	probably null	Het
Cfap91	A	G	16: 38,118,576 (GRCm39)	V741A	probably benign	Het
Cntfr	A	G	4: 41,658,900 (GRCm39)	I277T	probably damaging	Het
Col6a4	C	A	9: 105,903,665 (GRCm39)	R1642I	probably damaging	Het
Ctnna3	T	C	10: 64,838,347 (GRCm39)	I808T	probably damaging	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Dnah17	T	C	11: 117,961,364 (GRCm39)	T2554A	probably benign	Het
Fcgbp	A	T	7: 27,803,541 (GRCm39)	Q1715L	probably benign	Het
Gabarapl1	T	C	6: 129,515,593 (GRCm39)	F77S	probably damaging	Het
Gvin3	G	T	7: 106,203,216 (GRCm39)	D9E	possibly damaging	Het
Hpse2	T	C	19: 43,282,714 (GRCm39)	K180E	probably damaging	Het
Hs3st2	T	A	7: 121,099,925 (GRCm39)	L257Q	probably damaging	Het
Ighv1-18	T	C	12: 114,646,287 (GRCm39)	T106A	probably benign	Het
Ints2	A	C	11: 86,133,778 (GRCm39)	L424R	probably damaging	Het
Iqgap2	A	G	13: 95,886,541 (GRCm39)	V114A	probably damaging	Het
Kalrn	A	T	16: 34,134,579 (GRCm39)	I401N	probably damaging	Het
Mast2	T	A	4: 116,194,698 (GRCm39)		probably benign	Het
Nav3	A	T	10: 109,716,394 (GRCm39)		probably null	Het
Net1	G	A	13: 3,934,949 (GRCm39)	T359I	probably damaging	Het
Pcsk9	T	A	4: 106,301,899 (GRCm39)	H616L	probably benign	Het
Plekha5	G	T	6: 140,534,958 (GRCm39)	V597L	possibly damaging	Het
Plekhg3	T	A	12: 76,612,021 (GRCm39)	I374N	probably damaging	Het
Pros1	A	T	16: 62,721,008 (GRCm39)	R188*	probably null	Het
Rhbg	C	T	3: 88,150,755 (GRCm39)	V434I	probably damaging	Het
Rims1	A	G	1: 22,363,163 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,098 (GRCm39)		probably null	Het
Sbf2	T	C	7: 110,040,673 (GRCm39)	I385V	probably damaging	Het
Slc22a23	A	C	13: 34,482,987 (GRCm39)	Y181*	probably null	Het
Spata31	T	A	13: 65,069,469 (GRCm39)	V539E	probably benign	Het
Trpv5	G	A	6: 41,636,639 (GRCm39)	R436C	probably damaging	Het
Vmn1r13	G	A	6: 57,186,970 (GRCm39)	C43Y	probably benign	Het
Wif1	G	A	10: 120,918,099 (GRCm39)	V156I	probably benign	Het
Zfyve16	T	C	13: 92,641,057 (GRCm39)	N1229S	probably 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
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
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

Predicted Primers

Posted On

2017-04-14