Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01728:Myo18a'

105357

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 #

IGL01728

Quality Score

Status

Chromosome

Chromosomal Location

77654072-77756806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77668682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 181 (G181W)

Ref Sequence

ENSEMBL: ENSMUSP00000104013 (fasta)

Gene Model

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

AlphaFold

Q9JMH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000000645
AA Change: G181W

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: G181W

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: ENSMUST00000092887
AA Change: G181W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: G181W

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

probably damaging
Transcript: ENSMUST00000102488
AA Change: G181W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: G181W

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: G181W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: G181W

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: G181W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: G181W

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: G181W

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: G181W

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: ENSMUST00000168348
AA Change: G181W

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: G181W

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: G181W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: G181W

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: 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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
Adamtsl1	T	C	4: 86,029,074 (GRCm39)	I71T	probably damaging	Het
Agbl3	T	C	6: 34,759,092 (GRCm39)	M1T	probably null	Het
Ankib1	A	G	5: 3,751,992 (GRCm39)		probably benign	Het
Brinp3	T	G	1: 146,707,289 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,087,085 (GRCm39)	N138S	possibly damaging	Het
Dock7	G	A	4: 98,850,568 (GRCm39)	T1588M	probably damaging	Het
Ehbp1	G	A	11: 22,051,115 (GRCm39)	T479I	probably damaging	Het
Gpn2	T	C	4: 133,311,813 (GRCm39)	I15T	possibly damaging	Het
H3c2	G	A	13: 23,936,712 (GRCm39)	R117H	probably benign	Het
Haao	A	G	17: 84,142,658 (GRCm39)	F149S	probably damaging	Het
Iqsec3	T	A	6: 121,389,623 (GRCm39)		probably benign	Het
Lrrc39	G	T	3: 116,373,149 (GRCm39)		probably benign	Het
Ltbp2	C	A	12: 84,837,783 (GRCm39)	S1199I	probably damaging	Het
Mageb3	G	T	2: 121,784,941 (GRCm39)	P254T	probably damaging	Het
Mapkbp1	C	T	2: 119,854,302 (GRCm39)	P1300S	probably damaging	Het
Mtfmt	T	A	9: 65,343,100 (GRCm39)	L2H	probably damaging	Het
Mzf1	T	C	7: 12,785,654 (GRCm39)		probably benign	Het
Nfatc2	A	T	2: 168,378,162 (GRCm39)	L280Q	probably damaging	Het
Nudt15	A	G	14: 73,760,736 (GRCm39)		probably null	Het
Or51k2	T	C	7: 103,595,959 (GRCm39)	F62S	probably damaging	Het
Or8b53	A	G	9: 38,667,391 (GRCm39)	M136V	possibly damaging	Het
Parp14	A	G	16: 35,677,805 (GRCm39)	V721A	probably damaging	Het
Pbp2	G	T	6: 135,287,073 (GRCm39)	N91K	probably damaging	Het
Pde7b	C	A	10: 20,310,210 (GRCm39)		probably null	Het
Pramel7	C	A	2: 87,321,674 (GRCm39)	E120D	possibly damaging	Het
Rbbp5	C	T	1: 132,425,818 (GRCm39)	T516M	probably benign	Het
Slc16a12	A	G	19: 34,668,071 (GRCm39)	V28A	possibly damaging	Het
Slc6a9	T	C	4: 117,721,802 (GRCm39)	F276S	probably damaging	Het
Spata9	A	T	13: 76,141,193 (GRCm39)	I147L	probably benign	Het
Tenm4	A	T	7: 96,545,271 (GRCm39)	Y2429F	probably damaging	Het
Tmtc1	A	G	6: 148,312,564 (GRCm39)	S212P	probably benign	Het
Unc5cl	A	T	17: 48,766,991 (GRCm39)	I122F	probably damaging	Het
Unc79	T	A	12: 103,131,943 (GRCm39)	F2350I	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
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
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

2014-01-21