Mutagenetix > Incidental Mutations

Incidental Mutation 'R8168:Myo18a'

633915

Institutional Source

Beutler Lab

Gene Symbol

Myo18a

Ensembl Gene

ENSMUSG00000000631

Gene Name

myosin XVIIIA

Synonyms

MyoPDZ

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77763246-77865980 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77821142 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 713 (I713N)

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]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000645
AA Change: I665N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: I665N

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: I334N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: I334N

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: I665N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: I665N

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: ENSMUST00000100794
AA Change: I334N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: I334N

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: I665N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: I665N

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: I665N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: I665N

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: I665N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: I665N

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: I346N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: I346N

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: I677N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: I677N

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: ENSMUST00000164334
AA Change: I334N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: I334N

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: I272N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: I272N

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: I713N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: I713N

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: I677N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: I677N

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: I346N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: I346N

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (44/44)

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
1810043G02Rik	G	A	10: 77,982,944	A150T	probably benign	Het
9430020K01Rik	A	T	18: 4,675,094	D952V	probably benign	Het
AI607873	A	C	1: 173,729,938	S411R	probably benign	Het
Ano4	A	G	10: 88,980,995	I652T	probably damaging	Het
Arhgef1	A	G	7: 24,925,406	T862A	probably benign	Het
Atp6v1b2	T	C	8: 69,108,331	S404P	possibly damaging	Het
Cfap54	A	T	10: 92,908,877	S2170T	unknown	Het
Copa	A	T	1: 172,099,672	H204L	probably damaging	Het
Cwc22	A	C	2: 77,927,271	V171G	probably damaging	Het
D230025D16Rik	C	T	8: 105,248,769	P330L	probably benign	Het
Dock5	A	T	14: 67,770,197		probably null	Het
Flrt1	G	A	19: 7,096,637	L182F	probably damaging	Het
Foxf1	T	C	8: 121,085,162	V255A	probably damaging	Het
Gnptab	G	T	10: 88,419,133	A194S	probably benign	Het
Gzf1	C	T	2: 148,684,766	R386C	probably damaging	Het
H2-Aa	T	A	17: 34,287,721	T16S	possibly damaging	Het
Hdgfrp2	T	C	17: 56,082,282	F52S	probably damaging	Het
Htt	A	G	5: 34,882,956	N2154S	probably benign	Het
Lama3	T	A	18: 12,506,942	W65R	probably null	Het
Mef2c	G	T	13: 83,656,350	L356F	probably damaging	Het
Mrgprb2	A	T	7: 48,552,019	S319R	probably benign	Het
Mtrr	C	T	13: 68,572,613	V288I	probably benign	Het
Nelfa	A	T	5: 33,921,907	N107K	possibly damaging	Het
Nim1k	A	T	13: 119,712,752	V202D	probably damaging	Het
Nlrc4	T	C	17: 74,445,211	T726A	probably benign	Het
Olfr1154	T	A	2: 87,903,199	H159L	probably damaging	Het
Olfr1208	T	A	2: 88,896,776	M274L	probably benign	Het
Prdm10	G	A	9: 31,346,967	A514T	probably benign	Het
Prg4	T	A	1: 150,455,850	E357D	unknown	Het
Ptp4a3	T	G	15: 73,756,846	Y152D	probably damaging	Het
Raph1	A	G	1: 60,499,620	C389R	unknown	Het
Rcc1	T	C	4: 132,335,785	E170G	probably benign	Het
Spag17	C	T	3: 100,034,984	T775M	possibly damaging	Het
Srcap	T	A	7: 127,542,523	V1825D	probably damaging	Het
Tex40	A	G	19: 6,922,652	S162P	possibly damaging	Het
Tshr	T	A	12: 91,511,965	H195Q	probably benign	Het
Vmn1r174	A	T	7: 23,754,671	D254V	probably damaging	Het
Vps13a	A	C	19: 16,749,548	I244M	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGCAGATGGTTCCTCAG -3'
(R):5'- GTTCTGAGACAGCGTACAGG -3'

Sequencing Primer
(F):5'- TCCTCAGGGGTGGCTCTAG -3'
(R):5'- CGTACAGGTCAAACCATGTGTG -3'

Posted On

2020-07-13