Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Myo16'

8089

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

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

Stock #

R0006 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

10203911-10684742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10525988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 843 (K843E)

Ref Sequence

ENSEMBL: ENSMUSP00000049345 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

probably damaging
Transcript: ENSMUST00000042103
AA Change: K843E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: K843E

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: K787E

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: K843E

Meta Mutation Damage Score

0.3165

Coding Region Coverage

1x: 77.9%
3x: 66.3%
10x: 36.9%
20x: 17.4%

Validation Efficiency

95% (74/78)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	A	G	10: 83,438,762 (GRCm39)	F556L	probably damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,419,695 (GRCm39)	N316S	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Msantd4	A	G	9: 4,384,099 (GRCm39)	E140G	probably damaging	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Slc7a9	A	T	7: 35,169,525 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Wfdc8	T	C	2: 164,440,984 (GRCm39)	D253G	probably damaging	Het
Zfp451	A	T	1: 33,841,861 (GRCm39)		probably benign	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	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
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
R8055:Myo16	UTSW	8	10,612,186 (GRCm39)	missense	unknown
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

Posted On

2012-11-20