Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02643:Myo18a'

301810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo18a

Ensembl Gene

ENSMUSG00000000631

Gene Name

myosin XVIIIA

Synonyms

MyoPDZ

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02643

Quality Score

Status

Chromosome

Chromosomal Location

77654072-77756806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77668998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 286 (N286I)

Ref Sequence

ENSEMBL: ENSMUSP00000119839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000645] [ENSMUST00000092887] [ENSMUST00000102488] [ENSMUST00000108375] [ENSMUST00000108376] [ENSMUST00000130627] [ENSMUST00000169105] [ENSMUST00000168348] [ENSMUST00000164315]

AlphaFold

Q9JMH9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000645
AA Change: N286I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: N286I

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

possibly damaging
Transcript: ENSMUST00000092887
AA Change: N286I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: N286I

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: ENSMUST00000100795

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102488
AA Change: N286I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: N286I

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

possibly damaging
Transcript: ENSMUST00000108375
AA Change: N286I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: N286I

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

possibly damaging
Transcript: ENSMUST00000108376
AA Change: N286I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: N286I

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: ENSMUST00000130627
AA Change: N286I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: N286I

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

possibly damaging
Transcript: ENSMUST00000169105
AA Change: N286I

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: N286I

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: ENSMUST00000168348
AA Change: N286I

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: N286I

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: ENSMUST00000164315

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	G	5: 121,769,633 (GRCm39)	M608L	probably benign	Het
Adamts2	A	T	11: 50,679,527 (GRCm39)	M836L	probably benign	Het
Ankrd11	A	T	8: 123,619,061 (GRCm39)	M1597K	probably damaging	Het
Arhgef17	A	T	7: 100,533,089 (GRCm39)	F1145L	possibly damaging	Het
Atp13a3	A	T	16: 30,152,614 (GRCm39)	W32R	probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bod1l	T	A	5: 41,976,148 (GRCm39)	E1722V	possibly damaging	Het
Ceacam16	A	G	7: 19,595,086 (GRCm39)		probably benign	Het
Col14a1	T	A	15: 55,284,258 (GRCm39)	Y840N	unknown	Het
Dlg5	A	G	14: 24,241,250 (GRCm39)	C132R	probably damaging	Het
Dock4	T	A	12: 40,718,429 (GRCm39)	N242K	probably damaging	Het
Dsg3	G	A	18: 20,662,012 (GRCm39)	V426I	probably benign	Het
Dync1h1	T	C	12: 110,625,706 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,842,997 (GRCm39)	M357K	possibly damaging	Het
Gapvd1	A	G	2: 34,594,192 (GRCm39)	S932P	probably damaging	Het
Gata4	T	A	14: 63,442,204 (GRCm39)	D205V	possibly damaging	Het
Kcnk2	T	A	1: 188,990,976 (GRCm39)	I195L	possibly damaging	Het
Krt1	T	C	15: 101,755,479 (GRCm39)	I427V	probably benign	Het
Mapk1ip1l	T	A	14: 47,548,339 (GRCm39)	H162Q	possibly damaging	Het
Micu1	A	G	10: 59,675,558 (GRCm39)	D380G	probably damaging	Het
Mknk2	A	C	10: 80,504,435 (GRCm39)	L289R	probably damaging	Het
Mtcl2	A	G	2: 156,882,663 (GRCm39)	V463A	probably damaging	Het
Or5ae2	A	T	7: 84,506,239 (GRCm39)	I221F	probably damaging	Het
Pdp1	C	T	4: 11,962,062 (GRCm39)	R83H	probably benign	Het
Ptafr	A	C	4: 132,307,437 (GRCm39)	I276L	probably benign	Het
Rab3gap2	A	T	1: 184,999,197 (GRCm39)	D968V	possibly damaging	Het
Rplp1rt	T	C	19: 12,824,300 (GRCm39)		noncoding transcript	Het
Samd8	T	A	14: 21,843,212 (GRCm39)	M447K	probably damaging	Het
Six5	G	T	7: 18,831,455 (GRCm39)	V649L	probably benign	Het
Slc1a2	T	A	2: 102,570,225 (GRCm39)	F168I	probably benign	Het
Slc1a7	G	A	4: 107,869,497 (GRCm39)	V521M	possibly damaging	Het
Sorbs1	T	C	19: 40,353,577 (GRCm39)	D206G	possibly damaging	Het
Stim2	T	C	5: 54,267,955 (GRCm39)	V417A	probably damaging	Het
Tbx20	A	G	9: 24,685,009 (GRCm39)		probably benign	Het
Tia1	A	G	6: 86,393,372 (GRCm39)	I71V	probably benign	Het
Ttc7	T	C	17: 87,648,327 (GRCm39)	S509P	possibly damaging	Het
Ttpal	A	G	2: 163,449,140 (GRCm39)		probably benign	Het
Tubgcp2	A	T	7: 139,576,067 (GRCm39)	N865K	probably damaging	Het
Wdr45	G	T	X: 7,593,288 (GRCm39)	E62*	probably null	Het
Zfp507	A	G	7: 35,494,656 (GRCm39)	F129S	probably damaging	Het
Zfp518b	T	A	5: 38,831,498 (GRCm39)	H169L	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
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
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

2015-04-16