Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01523:Myo16'

89481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

BM140241, C230040D10Rik, Nyap3

Accession Numbers

Genbank: NM_001081397; MGI: 2685951

Is this an essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

IGL01523

Quality Score

Status

Chromosome

Chromosomal Location

10153911-10634742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10370908 bp

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]

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: 109,976,494	E246G	probably damaging	Het
B3galt5	T	A	16: 96,315,891	D241E	probably damaging	Het
Camta1	A	G	4: 151,145,050	F442L	possibly damaging	Het
Cntnap5b	A	T	1: 100,431,779	E709V	probably benign	Het
Ctnnal1	T	C	4: 56,835,243	I345V	probably damaging	Het
Evpl	T	C	11: 116,233,444	N183S	probably damaging	Het
Fam90a1b	T	C	X: 94,356,759	D155G	probably benign	Het
Fsip2	G	A	2: 82,977,519	S1394N	probably benign	Het
Gcnt2	A	T	13: 40,887,863	Q166L	probably benign	Het
Gpatch1	T	C	7: 35,308,338	D99G	probably null	Het
Grin2b	A	T	6: 136,044,265	W13R	probably null	Het
Hbb-bh1	C	T	7: 103,841,817	V127M	probably benign	Het
Hc	C	T	2: 35,039,238	M282I	probably benign	Het
Hirip3	A	G	7: 126,862,704	E57G	probably damaging	Het
Inpp5j	C	T	11: 3,495,932		probably null	Het
Krt84	A	T	15: 101,528,744	V328E	probably damaging	Het
Lrriq1	C	A	10: 103,218,116	E247*	probably null	Het
Mmrn2	T	A	14: 34,403,217	F918L	probably damaging	Het
Myh13	A	G	11: 67,347,943	E704G	possibly damaging	Het
Nobox	C	A	6: 43,304,123	K472N	probably damaging	Het
Olfr3	T	A	2: 36,812,403	T230S	probably benign	Het
Orc4	A	T	2: 48,917,224	S232T	probably benign	Het
Pign	A	T	1: 105,653,178	Y159N	probably damaging	Het
Rere	T	A	4: 150,615,555	V1032E	possibly damaging	Het
Ror2	T	C	13: 53,118,963	Q210R	probably benign	Het
Sh3tc2	G	A	18: 61,990,883	R905Q	probably benign	Het
Ttn	A	G	2: 76,954,983	S683P	possibly damaging	Het

Other mutations in Myo16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Myo16	APN	8	10438889	missense	probably damaging	1.00
IGL00567:Myo16	APN	8	10462154	missense	probably damaging	1.00
IGL00671:Myo16	APN	8	10361067	missense	probably damaging	1.00
IGL00897:Myo16	APN	8	10315518	missense	probably damaging	1.00
IGL01458:Myo16	APN	8	10435853	missense	probably damaging	1.00
IGL01532:Myo16	APN	8	10400551	missense	probably benign	0.00
IGL01680:Myo16	APN	8	10272630	missense	probably damaging	1.00
IGL01747:Myo16	APN	8	10604877	missense	probably damaging	1.00
IGL02084:Myo16	APN	8	10361088	missense	probably damaging	0.99
IGL02203:Myo16	APN	8	10570132	missense	possibly damaging	0.52
IGL02506:Myo16	APN	8	10390217	missense	probably damaging	1.00
IGL02819:Myo16	APN	8	10322600	missense	probably damaging	1.00
IGL02935:Myo16	APN	8	10532990	missense	probably benign	0.41
IGL02943:Myo16	APN	8	10400595	splice site	probably benign
IGL03347:Myo16	APN	8	10376120	critical splice acceptor site	probably null
3-1:Myo16	UTSW	8	10438869	missense	probably damaging	0.99
P0016:Myo16	UTSW	8	10400596	splice site	probably benign
R0006:Myo16	UTSW	8	10475988	missense	probably damaging	0.98
R0006:Myo16	UTSW	8	10475988	missense	probably damaging	0.98
R0033:Myo16	UTSW	8	10370955	missense	probably damaging	1.00
R0033:Myo16	UTSW	8	10370955	missense	probably damaging	1.00
R0142:Myo16	UTSW	8	10569790	missense	probably benign	0.01
R0195:Myo16	UTSW	8	10315538	splice site	probably benign
R0418:Myo16	UTSW	8	10569918	missense	probably benign	0.01
R0576:Myo16	UTSW	8	10562318	critical splice donor site	probably null
R0627:Myo16	UTSW	8	10439689	missense	probably benign	0.15
R0826:Myo16	UTSW	8	10376285	splice site	probably benign
R0835:Myo16	UTSW	8	10272766	missense	probably damaging	1.00
R1015:Myo16	UTSW	8	10390183	missense	probably benign	0.17
R1052:Myo16	UTSW	8	10570181	missense	possibly damaging	0.92
R1180:Myo16	UTSW	8	10396908	missense	probably damaging	1.00
R1185:Myo16	UTSW	8	10633624	missense	probably damaging	1.00
R1185:Myo16	UTSW	8	10633624	missense	probably damaging	1.00
R1474:Myo16	UTSW	8	10502796	missense	probably damaging	1.00
R1484:Myo16	UTSW	8	10560145	missense	probably damaging	1.00
R1503:Myo16	UTSW	8	10502817	missense	probably benign	0.44
R1733:Myo16	UTSW	8	10442283	missense	probably damaging	0.98
R1873:Myo16	UTSW	8	10272789	missense	probably damaging	1.00
R1885:Myo16	UTSW	8	10322656	missense	probably damaging	1.00
R1943:Myo16	UTSW	8	10594905	missense	possibly damaging	0.63
R2013:Myo16	UTSW	8	10502796	missense	probably damaging	1.00
R2019:Myo16	UTSW	8	10376260	missense	probably benign	0.05
R2022:Myo16	UTSW	8	10272633	missense	probably benign	0.08
R2214:Myo16	UTSW	8	10438803	missense	probably damaging	1.00
R2228:Myo16	UTSW	8	10594905	missense	possibly damaging	0.63
R2351:Myo16	UTSW	8	10594905	missense	possibly damaging	0.63
R2352:Myo16	UTSW	8	10594905	missense	possibly damaging	0.63
R2357:Myo16	UTSW	8	10594905	missense	possibly damaging	0.63
R2566:Myo16	UTSW	8	10594820	missense	probably benign	0.43
R3402:Myo16	UTSW	8	10384719	missense	probably benign
R3870:Myo16	UTSW	8	10442239	missense	probably benign	0.25
R4080:Myo16	UTSW	8	10562240	missense	probably damaging	1.00
R4498:Myo16	UTSW	8	10435869	missense	probably benign	0.01
R4631:Myo16	UTSW	8	10506984	missense	probably damaging	1.00
R4689:Myo16	UTSW	8	10438890	missense	probably damaging	1.00
R4736:Myo16	UTSW	8	10373527	missense	probably damaging	1.00
R4738:Myo16	UTSW	8	10373527	missense	probably damaging	1.00
R4739:Myo16	UTSW	8	10373527	missense	probably damaging	1.00
R4764:Myo16	UTSW	8	10435880	missense	probably damaging	1.00
R4778:Myo16	UTSW	8	10569694	missense	probably damaging	0.97
R4852:Myo16	UTSW	8	10373474	missense	probably damaging	1.00
R4885:Myo16	UTSW	8	10438892	missense	probably damaging	0.98
R4993:Myo16	UTSW	8	10476094	missense	probably damaging	0.99
R5077:Myo16	UTSW	8	10322658	missense	probably damaging	1.00
R5135:Myo16	UTSW	8	10476114	missense	probably benign
R5170:Myo16	UTSW	8	10569745	missense	probably benign	0.30
R5203:Myo16	UTSW	8	10360995	missense	probably damaging	1.00
R5246:Myo16	UTSW	8	10562212	nonsense	probably null
R5517:Myo16	UTSW	8	10560226	missense	probably benign	0.22
R5567:Myo16	UTSW	8	10322676	missense	probably damaging	1.00
R5694:Myo16	UTSW	8	10569606	missense	probably benign	0.01
R5749:Myo16	UTSW	8	10413245	missense	probably benign	0.01
R6131:Myo16	UTSW	8	10569877	missense	probably benign
R6213:Myo16	UTSW	8	10370963	critical splice donor site	probably null
R6216:Myo16	UTSW	8	10315494	missense	probably benign	0.01
R6240:Myo16	UTSW	8	10370930	missense	probably damaging	1.00
R6628:Myo16	UTSW	8	10570638	missense	probably damaging	0.99
R6935:Myo16	UTSW	8	10569820	missense	probably benign	0.37
R6996:Myo16	UTSW	8	10569496	missense	probably damaging	1.00
R7103:Myo16	UTSW	8	10569673	missense	unknown
R7164:Myo16	UTSW	8	10569585	missense	unknown
R7255:Myo16	UTSW	8	10499169	missense	unknown
R7266:Myo16	UTSW	8	10272687	missense	unknown
R7319:Myo16	UTSW	8	10476185	splice site	probably null
R7398:Myo16	UTSW	8	10562183	missense	unknown
R7442:Myo16	UTSW	8	10272537	missense	probably damaging	1.00
R7498:Myo16	UTSW	8	10400589	missense	unknown
R7539:Myo16	UTSW	8	10361095	critical splice donor site	probably null
R7622:Myo16	UTSW	8	10376238	missense	unknown
R7794:Myo16	UTSW	8	10569913	missense	unknown
R7903:Myo16	UTSW	8	10376265	missense	probably null
R8055:Myo16	UTSW	8	10562186	missense	unknown
R8078:Myo16	UTSW	8	10562078	missense	unknown
R8081:Myo16	UTSW	8	10322743	missense	unknown
X0066:Myo16	UTSW	8	10376185	missense	probably damaging	1.00
Z1177:Myo16	UTSW	8	10474691	missense	unknown

Posted On

2013-12-03