Mutagenetix > Incidental Mutation

Incidental Mutation 'R9059:Myo18a'

688874

Institutional Source

Beutler Lab

Gene Symbol

Myo18a

Ensembl Gene

ENSMUSG00000000631

Gene Name

myosin XVIIIA

Synonyms

MyoPDZ

MMRRC Submission

068885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77654072-77756806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77668899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 253 (V253A)

Ref Sequence

ENSEMBL: ENSMUSP00000130696 (fasta)

Gene Model

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

AlphaFold

Q9JMH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000000645
AA Change: V253A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: V253A

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: V253A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: V253A

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: ENSMUST00000102488
AA Change: V253A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: V253A

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: V253A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: V253A

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: V253A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: V253A

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: ENSMUST00000130627
AA Change: V253A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: V253A

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 benign
Transcript: ENSMUST00000164315

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168348
AA Change: V253A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: V253A

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: V253A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: V253A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,124,732 (GRCm39)	D48E	probably benign	Het
Ablim2	A	G	5: 35,959,850 (GRCm39)	T101A	probably damaging	Het
Acot8	A	G	2: 164,634,829 (GRCm39)	S316P	probably benign	Het
Acta2	G	T	19: 34,219,155 (GRCm39)	A349D	possibly damaging	Het
Adgrv1	C	A	13: 81,562,692 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,455,073 (GRCm39)	D57G	probably damaging	Het
Azin2	A	G	4: 128,828,440 (GRCm39)	Y351H	probably benign	Het
Ccdc142	T	C	6: 83,079,400 (GRCm39)	C246R	probably damaging	Het
Col25a1	C	A	3: 130,268,499 (GRCm39)	Q179K	unknown	Het
Ddx46	C	T	13: 55,799,921 (GRCm39)	A277V	probably benign	Het
Diaph1	T	A	18: 38,022,798 (GRCm39)	N792I	possibly damaging	Het
Dnah11	G	A	12: 118,094,578 (GRCm39)	P830L	probably benign	Het
Dnah3	C	G	7: 119,684,368 (GRCm39)	R252S	probably benign	Het
Dnah5	A	G	15: 28,245,812 (GRCm39)	D550G	probably benign	Het
Dph3	T	C	14: 31,807,384 (GRCm39)	N31D	probably benign	Het
Dsg1c	A	T	18: 20,408,306 (GRCm39)	T452S	probably damaging	Het
Dsg4	T	A	18: 20,604,182 (GRCm39)	M883K	possibly damaging	Het
Efcab3	T	C	11: 104,642,689 (GRCm39)	V1104A	possibly damaging	Het
Epn1	T	G	7: 5,098,067 (GRCm39)	S293A	probably benign	Het
Fggy	T	A	4: 95,688,841 (GRCm39)	Y318*	probably null	Het
Hip1	A	G	5: 135,457,597 (GRCm39)	L703P	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igf2r	GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC	GCAGCCCTCCATAGGCGC	17: 12,970,180 (GRCm39)		probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Larp4	A	G	15: 99,889,693 (GRCm39)	E204G	probably benign	Het
Lbr	A	G	1: 181,645,119 (GRCm39)	I511T		Het
Lingo3	G	T	10: 80,670,523 (GRCm39)	T469K	probably benign	Het
Lrrc30	A	T	17: 67,938,798 (GRCm39)	W261R	probably damaging	Het
Man2b1	T	C	8: 85,818,155 (GRCm39)	V442A	probably damaging	Het
Mroh3	T	A	1: 136,109,533 (GRCm39)	R891S	probably benign	Het
Mtcl1	T	A	17: 66,650,606 (GRCm39)	M1620L	probably benign	Het
Or5b101	A	T	19: 13,005,277 (GRCm39)	C139S	probably damaging	Het
Pcdhb22	A	T	18: 37,652,722 (GRCm39)	N140Y	probably damaging	Het
Ppp1r9b	T	C	11: 94,883,254 (GRCm39)	V294A	probably benign	Het
Ptk7	A	T	17: 46,877,117 (GRCm39)	D980E	probably damaging	Het
Rdh11	T	A	12: 79,238,713 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,365,805 (GRCm39)	L558R	probably damaging	Het
Slc22a26	C	T	19: 7,762,559 (GRCm39)	M460I	probably benign	Het
Smc1b	G	A	15: 85,004,875 (GRCm39)	Q400*	probably null	Het
Spg11	T	C	2: 121,918,788 (GRCm39)	E947G	probably damaging	Het
Stab1	T	C	14: 30,876,805 (GRCm39)	I840V	probably benign	Het
Tlk1	T	C	2: 70,617,277 (GRCm39)	T68A	possibly damaging	Het
Traip	A	G	9: 107,840,549 (GRCm39)	I273V	probably benign	Het
Trim30c	T	G	7: 104,031,272 (GRCm39)	*514C	probably null	Het
U2surp	A	G	9: 95,363,716 (GRCm39)	Y615H	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
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
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

PCR Primer
(F):5'- GTGACTAAAAGATTCCCAGCTG -3'
(R):5'- AGGGAAGCACTCACATCAGC -3'

Sequencing Primer
(F):5'- AAGATTCCCAGCTGATCTACGTC -3'
(R):5'- CTCGCTAAGCTCTGGGATG -3'

Posted On

2021-11-19