Mutagenetix > Incidental Mutation

Incidental Mutation 'R8055:Myo16'

619319

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

MMRRC Submission

067492-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R8055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10203911-10684742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10612186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1277 (D1277V)

Ref Sequence

ENSEMBL: ENSMUSP00000146677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042103] [ENSMUST00000207204] [ENSMUST00000207477]

AlphaFold

Q5DU14

Predicted Effect

probably damaging
Transcript: ENSMUST00000042103
AA Change: D1277V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: D1277V

Domain	Start	End	E-Value	Type
ANK	92	121	1.65e-1	SMART
ANK	125	154	3.46e-4	SMART
ANK	158	189	2.11e2	SMART
ANK	221	250	2.85e-5	SMART
ANK	254	283	3.51e-5	SMART
low complexity region	333	349	N/A	INTRINSIC
MYSc	394	1144	2.27e-144	SMART
IQ	1144	1166	4.06e-2	SMART
Pfam:NYAP_N	1207	1591	4.1e-135	PFAM
low complexity region	1670	1690	N/A	INTRINSIC
low complexity region	1841	1860	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000207204
AA Change: D1221V

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: D1277V

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	C	A	3: 92,336,139 (GRCm39)	G188W	unknown	Het
Ahcyl1	A	T	3: 107,576,047 (GRCm39)	D353E	probably benign	Het
Alk	G	T	17: 72,206,252 (GRCm39)	P1033T	probably benign	Het
Asb15	G	T	6: 24,556,565 (GRCm39)	C20F	probably benign	Het
BC049715	A	G	6: 136,816,913 (GRCm39)	N51S	possibly damaging	Het
Ccser1	G	A	6: 61,290,757 (GRCm39)	V480M	possibly damaging	Het
Cep295	T	C	9: 15,244,905 (GRCm39)	N1184D	probably benign	Het
Cers6	C	T	2: 68,777,625 (GRCm39)	R111W	probably damaging	Het
Clybl	T	A	14: 122,615,273 (GRCm39)	D204E	probably damaging	Het
Cxcl13	T	C	5: 96,107,763 (GRCm39)	V73A	probably benign	Het
Dchs2	A	G	3: 83,037,032 (GRCm39)	N593S	probably benign	Het
Esco2	A	T	14: 66,069,168 (GRCm39)	N47K	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fmo4	T	C	1: 162,636,015 (GRCm39)	T46A	probably benign	Het
Gm15217	T	C	14: 46,616,911 (GRCm39)		probably benign	Het
Gnb5	G	T	9: 75,250,826 (GRCm39)	A317S	probably benign	Het
Klf14	A	G	6: 30,934,722 (GRCm39)	V304A	probably benign	Het
Klrc2	A	T	6: 129,633,424 (GRCm39)	C209*	probably null	Het
Kmt2a	A	T	9: 44,732,378 (GRCm39)	N2646K	unknown	Het
Krt14	C	G	11: 100,095,584 (GRCm39)	V274L	possibly damaging	Het
Myo9a	A	T	9: 59,814,743 (GRCm39)	E2226D	probably damaging	Het
Osbpl8	T	C	10: 111,120,255 (GRCm39)	V631A	possibly damaging	Het
Piezo2	G	A	18: 63,175,882 (GRCm39)	S1833L	probably damaging	Het
Pkp4	T	C	2: 59,138,359 (GRCm39)	V203A	probably benign	Het
Primpol	T	C	8: 47,032,197 (GRCm39)	D459G	probably benign	Het
Prkdc	G	T	16: 15,634,749 (GRCm39)	R3631S	probably benign	Het
Rbbp8nl	T	C	2: 179,920,001 (GRCm39)	T558A	probably benign	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rdx	G	A	9: 51,997,724 (GRCm39)	R566Q	probably damaging	Het
Rhbdf2	A	C	11: 116,498,191 (GRCm39)	S3A	probably benign	Het
Rpap1	A	T	2: 119,595,284 (GRCm39)	I1319N	probably benign	Het
Sbno2	T	A	10: 79,905,265 (GRCm39)	I206F	possibly damaging	Het
Scn1a	A	G	2: 66,149,845 (GRCm39)	V944A	probably damaging	Het
Scube1	C	T	15: 83,543,226 (GRCm39)		probably null	Het
Slc22a20	G	A	19: 6,021,439 (GRCm39)	A521V	probably benign	Het
Slc6a4	C	A	11: 76,901,424 (GRCm39)	T53K	probably benign	Het
Snapc2	G	A	8: 4,304,322 (GRCm39)	R75Q	probably damaging	Het
Sptan1	A	T	2: 29,884,351 (GRCm39)	K662I	probably benign	Het
Sycp3	T	C	10: 88,298,438 (GRCm39)	S55P	probably damaging	Het
Tet2	A	T	3: 133,173,753 (GRCm39)	V1503D	possibly damaging	Het
Tfrc	T	A	16: 32,437,474 (GRCm39)	N277K	probably benign	Het
Tlx3	A	T	11: 33,151,283 (GRCm39)	V291E	probably damaging	Het
Tnk1	A	T	11: 69,747,327 (GRCm39)	H101Q	probably benign	Het
Tns3	A	T	11: 8,495,343 (GRCm39)	D70E	probably damaging	Het
Trip11	C	A	12: 101,803,924 (GRCm39)	G1938C	probably damaging	Het
Tubg1	T	C	11: 101,014,828 (GRCm39)	L190P	probably damaging	Het
Vmn2r79	A	T	7: 86,686,541 (GRCm39)	S641C	possibly damaging	Het
Wnt8b	A	G	19: 44,481,952 (GRCm39)		probably benign	Het

Other mutations in Myo16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Myo16	APN	8	10,488,889 (GRCm39)	missense	probably damaging	1.00
IGL00567:Myo16	APN	8	10,512,154 (GRCm39)	missense	probably damaging	1.00
IGL00671:Myo16	APN	8	10,411,067 (GRCm39)	missense	probably damaging	1.00
IGL00897:Myo16	APN	8	10,365,518 (GRCm39)	missense	probably damaging	1.00
IGL01458:Myo16	APN	8	10,485,853 (GRCm39)	missense	probably damaging	1.00
IGL01523:Myo16	APN	8	10,420,908 (GRCm39)	missense	probably damaging	1.00
IGL01532:Myo16	APN	8	10,450,551 (GRCm39)	missense	probably benign	0.00
IGL01680:Myo16	APN	8	10,322,630 (GRCm39)	missense	probably damaging	1.00
IGL01747:Myo16	APN	8	10,654,877 (GRCm39)	missense	probably damaging	1.00
IGL02084:Myo16	APN	8	10,411,088 (GRCm39)	missense	probably damaging	0.99
IGL02203:Myo16	APN	8	10,620,132 (GRCm39)	missense	possibly damaging	0.52
IGL02506:Myo16	APN	8	10,440,217 (GRCm39)	missense	probably damaging	1.00
IGL02819:Myo16	APN	8	10,372,600 (GRCm39)	missense	probably damaging	1.00
IGL02935:Myo16	APN	8	10,582,990 (GRCm39)	missense	probably benign	0.41
IGL02943:Myo16	APN	8	10,450,595 (GRCm39)	splice site	probably benign
IGL03347:Myo16	APN	8	10,426,120 (GRCm39)	critical splice acceptor site	probably null
3-1:Myo16	UTSW	8	10,488,869 (GRCm39)	missense	probably damaging	0.99
P0016:Myo16	UTSW	8	10,450,596 (GRCm39)	splice site	probably benign
R0006:Myo16	UTSW	8	10,525,988 (GRCm39)	missense	probably damaging	0.98
R0006:Myo16	UTSW	8	10,525,988 (GRCm39)	missense	probably damaging	0.98
R0033:Myo16	UTSW	8	10,420,955 (GRCm39)	missense	probably damaging	1.00
R0033:Myo16	UTSW	8	10,420,955 (GRCm39)	missense	probably damaging	1.00
R0142:Myo16	UTSW	8	10,619,790 (GRCm39)	missense	probably benign	0.01
R0195:Myo16	UTSW	8	10,365,538 (GRCm39)	splice site	probably benign
R0418:Myo16	UTSW	8	10,619,918 (GRCm39)	missense	probably benign	0.01
R0576:Myo16	UTSW	8	10,612,318 (GRCm39)	critical splice donor site	probably null
R0627:Myo16	UTSW	8	10,489,689 (GRCm39)	missense	probably benign	0.15
R0826:Myo16	UTSW	8	10,426,285 (GRCm39)	splice site	probably benign
R0835:Myo16	UTSW	8	10,322,766 (GRCm39)	missense	probably damaging	1.00
R1015:Myo16	UTSW	8	10,440,183 (GRCm39)	missense	probably benign	0.17
R1052:Myo16	UTSW	8	10,620,181 (GRCm39)	missense	possibly damaging	0.92
R1180:Myo16	UTSW	8	10,446,908 (GRCm39)	missense	probably damaging	1.00
R1185:Myo16	UTSW	8	10,683,624 (GRCm39)	missense	probably damaging	1.00
R1185:Myo16	UTSW	8	10,683,624 (GRCm39)	missense	probably damaging	1.00
R1474:Myo16	UTSW	8	10,552,796 (GRCm39)	missense	probably damaging	1.00
R1484:Myo16	UTSW	8	10,610,145 (GRCm39)	missense	probably damaging	1.00
R1503:Myo16	UTSW	8	10,552,817 (GRCm39)	missense	probably benign	0.44
R1733:Myo16	UTSW	8	10,492,283 (GRCm39)	missense	probably damaging	0.98
R1873:Myo16	UTSW	8	10,322,789 (GRCm39)	missense	probably damaging	1.00
R1885:Myo16	UTSW	8	10,372,656 (GRCm39)	missense	probably damaging	1.00
R1943:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2013:Myo16	UTSW	8	10,552,796 (GRCm39)	missense	probably damaging	1.00
R2019:Myo16	UTSW	8	10,426,260 (GRCm39)	missense	probably benign	0.05
R2022:Myo16	UTSW	8	10,322,633 (GRCm39)	missense	probably benign	0.08
R2214:Myo16	UTSW	8	10,488,803 (GRCm39)	missense	probably damaging	1.00
R2228:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2351:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2352:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2357:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2566:Myo16	UTSW	8	10,644,820 (GRCm39)	missense	probably benign	0.43
R3402:Myo16	UTSW	8	10,434,719 (GRCm39)	missense	probably benign
R3870:Myo16	UTSW	8	10,492,239 (GRCm39)	missense	probably benign	0.25
R4080:Myo16	UTSW	8	10,612,240 (GRCm39)	missense	probably damaging	1.00
R4498:Myo16	UTSW	8	10,485,869 (GRCm39)	missense	probably benign	0.01
R4631:Myo16	UTSW	8	10,556,984 (GRCm39)	missense	probably damaging	1.00
R4689:Myo16	UTSW	8	10,488,890 (GRCm39)	missense	probably damaging	1.00
R4736:Myo16	UTSW	8	10,423,527 (GRCm39)	missense	probably damaging	1.00
R4738:Myo16	UTSW	8	10,423,527 (GRCm39)	missense	probably damaging	1.00
R4739:Myo16	UTSW	8	10,423,527 (GRCm39)	missense	probably damaging	1.00
R4764:Myo16	UTSW	8	10,485,880 (GRCm39)	missense	probably damaging	1.00
R4778:Myo16	UTSW	8	10,619,694 (GRCm39)	missense	probably damaging	0.97
R4852:Myo16	UTSW	8	10,423,474 (GRCm39)	missense	probably damaging	1.00
R4885:Myo16	UTSW	8	10,488,892 (GRCm39)	missense	probably damaging	0.98
R4993:Myo16	UTSW	8	10,526,094 (GRCm39)	missense	probably damaging	0.99
R5077:Myo16	UTSW	8	10,372,658 (GRCm39)	missense	probably damaging	1.00
R5135:Myo16	UTSW	8	10,526,114 (GRCm39)	missense	probably benign
R5170:Myo16	UTSW	8	10,619,745 (GRCm39)	missense	probably benign	0.30
R5203:Myo16	UTSW	8	10,410,995 (GRCm39)	missense	probably damaging	1.00
R5246:Myo16	UTSW	8	10,612,212 (GRCm39)	nonsense	probably null
R5517:Myo16	UTSW	8	10,610,226 (GRCm39)	missense	probably benign	0.22
R5567:Myo16	UTSW	8	10,372,676 (GRCm39)	missense	probably damaging	1.00
R5694:Myo16	UTSW	8	10,619,606 (GRCm39)	missense	probably benign	0.01
R5749:Myo16	UTSW	8	10,463,245 (GRCm39)	missense	probably benign	0.01
R6131:Myo16	UTSW	8	10,619,877 (GRCm39)	missense	probably benign
R6213:Myo16	UTSW	8	10,420,963 (GRCm39)	critical splice donor site	probably null
R6216:Myo16	UTSW	8	10,365,494 (GRCm39)	missense	probably benign	0.01
R6240:Myo16	UTSW	8	10,420,930 (GRCm39)	missense	probably damaging	1.00
R6628:Myo16	UTSW	8	10,620,638 (GRCm39)	missense	probably damaging	0.99
R6935:Myo16	UTSW	8	10,619,820 (GRCm39)	missense	probably benign	0.37
R6996:Myo16	UTSW	8	10,619,496 (GRCm39)	missense	probably damaging	1.00
R7103:Myo16	UTSW	8	10,619,673 (GRCm39)	missense	unknown
R7164:Myo16	UTSW	8	10,619,585 (GRCm39)	missense	unknown
R7255:Myo16	UTSW	8	10,549,169 (GRCm39)	missense	unknown
R7266:Myo16	UTSW	8	10,322,687 (GRCm39)	missense	unknown
R7319:Myo16	UTSW	8	10,526,185 (GRCm39)	splice site	probably null
R7398:Myo16	UTSW	8	10,612,183 (GRCm39)	missense	unknown
R7442:Myo16	UTSW	8	10,322,537 (GRCm39)	missense	probably damaging	1.00
R7498:Myo16	UTSW	8	10,450,589 (GRCm39)	missense	unknown
R7539:Myo16	UTSW	8	10,411,095 (GRCm39)	critical splice donor site	probably null
R7622:Myo16	UTSW	8	10,426,238 (GRCm39)	missense	unknown
R7794:Myo16	UTSW	8	10,619,913 (GRCm39)	missense	unknown
R7903:Myo16	UTSW	8	10,426,265 (GRCm39)	missense	probably null
R8078:Myo16	UTSW	8	10,612,078 (GRCm39)	missense	unknown
R8081:Myo16	UTSW	8	10,372,743 (GRCm39)	missense	unknown
R8679:Myo16	UTSW	8	10,411,042 (GRCm39)	missense	unknown
R8700:Myo16	UTSW	8	10,463,172 (GRCm39)	missense	unknown
R8939:Myo16	UTSW	8	10,524,679 (GRCm39)	missense	probably damaging	0.99
R8955:Myo16	UTSW	8	10,426,175 (GRCm39)	missense	probably damaging	1.00
R8968:Myo16	UTSW	8	10,619,700 (GRCm39)	missense	unknown
R9187:Myo16	UTSW	8	10,492,233 (GRCm39)	missense	unknown
R9219:Myo16	UTSW	8	10,492,236 (GRCm39)	missense	unknown
R9287:Myo16	UTSW	8	10,526,114 (GRCm39)	missense	unknown
R9327:Myo16	UTSW	8	10,489,705 (GRCm39)	critical splice donor site	probably null
R9763:Myo16	UTSW	8	10,450,528 (GRCm39)	missense	unknown
R9765:Myo16	UTSW	8	10,620,401 (GRCm39)	missense	probably damaging	0.97
R9790:Myo16	UTSW	8	10,619,925 (GRCm39)	missense	unknown
R9791:Myo16	UTSW	8	10,619,925 (GRCm39)	missense	unknown
X0066:Myo16	UTSW	8	10,426,185 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo16	UTSW	8	10,524,691 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTCTTTGTGTCAGGGGAAC -3'
(R):5'- TGAGAACAGCATTCACTTCCC -3'

Sequencing Primer
(F):5'- TGAATGACACACCTGGGC -3'
(R):5'- CCCCAACCACACCCCCTC -3'

Posted On

2020-01-23