Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01523:Myo16'

89481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL01523

Quality Score

Status

Chromosome

Chromosomal Location

10203911-10684742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10420908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 249 (N249K)

Ref Sequence

ENSEMBL: ENSMUSP00000049345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042103] [ENSMUST00000207204] [ENSMUST00000207477] [ENSMUST00000208309] [ENSMUST00000214643]

AlphaFold

Q5DU14

Predicted Effect

probably damaging
Transcript: ENSMUST00000042103
AA Change: N249K

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

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: N249K

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: N249K

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: N249K

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208309
AA Change: N249K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000214643

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,867,320 (GRCm39)	E246G	probably damaging	Het
B3galt5	T	A	16: 96,117,091 (GRCm39)	D241E	probably damaging	Het
Camta1	A	G	4: 151,229,507 (GRCm39)	F442L	possibly damaging	Het
Cntnap5b	A	T	1: 100,359,504 (GRCm39)	E709V	probably benign	Het
Ctnnal1	T	C	4: 56,835,243 (GRCm39)	I345V	probably damaging	Het
Evpl	T	C	11: 116,124,270 (GRCm39)	N183S	probably damaging	Het
Fam90a1b	T	C	X: 93,400,365 (GRCm39)	D155G	probably benign	Het
Fsip2	G	A	2: 82,807,863 (GRCm39)	S1394N	probably benign	Het
Gcnt2	A	T	13: 41,041,339 (GRCm39)	Q166L	probably benign	Het
Gpatch1	T	C	7: 35,007,763 (GRCm39)	D99G	probably null	Het
Grin2b	A	T	6: 136,021,263 (GRCm39)	W13R	probably null	Het
Hbb-bh1	C	T	7: 103,491,024 (GRCm39)	V127M	probably benign	Het
Hc	C	T	2: 34,929,250 (GRCm39)	M282I	probably benign	Het
Hirip3	A	G	7: 126,461,876 (GRCm39)	E57G	probably damaging	Het
Inpp5j	C	T	11: 3,445,932 (GRCm39)		probably null	Het
Krt84	A	T	15: 101,437,179 (GRCm39)	V328E	probably damaging	Het
Lrriq1	C	A	10: 103,053,977 (GRCm39)	E247*	probably null	Het
Mmrn2	T	A	14: 34,125,174 (GRCm39)	F918L	probably damaging	Het
Myh13	A	G	11: 67,238,769 (GRCm39)	E704G	possibly damaging	Het
Nobox	C	A	6: 43,281,057 (GRCm39)	K472N	probably damaging	Het
Or1j1	T	A	2: 36,702,415 (GRCm39)	T230S	probably benign	Het
Orc4	A	T	2: 48,807,236 (GRCm39)	S232T	probably benign	Het
Pign	A	T	1: 105,580,903 (GRCm39)	Y159N	probably damaging	Het
Rere	T	A	4: 150,700,012 (GRCm39)	V1032E	possibly damaging	Het
Ror2	T	C	13: 53,272,999 (GRCm39)	Q210R	probably benign	Het
Sh3tc2	G	A	18: 62,123,954 (GRCm39)	R905Q	probably benign	Het
Ttn	A	G	2: 76,785,327 (GRCm39)	S683P	possibly 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
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
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

2013-12-03