Mutagenetix > Incidental Mutations

Incidental Mutation 'R4738:Myo16'

359434

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

BM140241, C230040D10Rik, Nyap3

MMRRC Submission

041964-MU

Accession Numbers

Genbank: NM_001081397; MGI: 2685951

Is this an essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10153911-10634742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10373527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 288 (G288W)

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: G288W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: G288W

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: G288W

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: G288W

Predicted Effect

probably damaging
Transcript: ENSMUST00000208309
AA Change: G288W

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000214643

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,973,983	I176T	probably benign	Het
Angpt2	C	T	8: 18,741,059	D74N	probably benign	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Areg	T	C	5: 91,146,724	I247T	possibly damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,103,410	S246T	probably benign	Het
Atp8b1	T	C	18: 64,545,180	R882G	probably benign	Het
Atp9a	A	G	2: 168,668,181	V444A	probably benign	Het
Babam2	T	A	5: 31,901,142	Y211N	probably damaging	Het
Btbd11	C	T	10: 85,627,248	Q626*	probably null	Het
Ccdc127	T	G	13: 74,357,068		probably benign	Het
Cep192	A	T	18: 67,884,830	K2500*	probably null	Het
Cnot4	T	C	6: 35,051,376	N435S	probably benign	Het
Col12a1	T	C	9: 79,699,282	I620V	probably damaging	Het
Cyth4	G	A	15: 78,605,874	M62I	probably benign	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dchs1	C	T	7: 105,758,673	R1984Q	probably damaging	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Disp2	A	G	2: 118,790,326	Y513C	probably damaging	Het
Dph7	T	C	2: 24,963,131	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,430,078	M384K	probably benign	Het
Emc1	G	T	4: 139,362,202	G227V	possibly damaging	Het
Eri2	A	G	7: 119,787,732		probably null	Het
Frzb	A	G	2: 80,424,597		probably null	Het
Ganc	T	A	2: 120,452,594	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,054,747		probably benign	Het
Gm3086	A	T	12: 69,969,381		probably benign	Het
Gsdmc2	A	T	15: 63,826,801	Y315*	probably null	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Hhip	C	T	8: 79,992,570	D443N	probably damaging	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Kank2	T	C	9: 21,774,619	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,283,133	R345S	probably benign	Het
Larp7	A	G	3: 127,546,045		probably null	Het
Lgals12	A	G	19: 7,604,099	V81A	probably benign	Het
Lhx9	A	G	1: 138,832,748	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,026,999	H213L	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Neb	A	C	2: 52,187,482	S1846A	probably damaging	Het
Nr3c2	T	C	8: 76,909,307	S346P	possibly damaging	Het
Olfr1564	A	G	17: 33,215,810	F178S	probably benign	Het
Olfr187	T	C	16: 59,036,195	I181V	probably benign	Het
Olfr376	G	T	11: 73,375,350	L200F	possibly damaging	Het
Olfr487	A	T	7: 108,211,994	N178K	probably damaging	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Osbpl10	A	G	9: 115,216,574	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,979,918	V210A	probably damaging	Het
Pam	A	T	1: 97,923,132	V167D	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pbx4	C	T	8: 69,864,969	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,403,415	C821R	probably benign	Het
Plekhg3	T	C	12: 76,576,914	I976T	probably damaging	Het
Pold1	G	A	7: 44,541,329	R304C	probably damaging	Het
Prss38	T	C	11: 59,372,945	T314A	probably benign	Het
Psph	T	C	5: 129,769,386		probably null	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,934,436	E648G	probably damaging	Het
Ralgds	A	G	2: 28,545,416	E465G	probably damaging	Het
Rfng	T	C	11: 120,783,964	T67A	probably damaging	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Rps6kl1	G	T	12: 85,140,387	F181L	probably benign	Het
Spata46	G	A	1: 170,311,886	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,477,980	N124K	probably damaging	Het
Sspo	C	T	6: 48,478,396	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,797,089	I231T	probably damaging	Het
Tff3	G	A	17: 31,127,509	P30S	probably benign	Het
Thg1l	C	T	11: 45,954,191	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,256,882	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,090,502	T14A	probably damaging	Het
Tspan17	T	A	13: 54,795,064	C116*	probably null	Het
Ttn	T	C	2: 76,880,546		probably benign	Het
Tyr	T	C	7: 87,492,647	Y158C	probably null	Het
U2af1l4	G	T	7: 30,563,348		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,447,070	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,239,076	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,464,142		probably null	Het
Zfp521	T	C	18: 13,844,054	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,317,165	F345I	probably benign	Het
Zswim2	T	A	2: 83,915,395	R566S	probably benign	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
IGL01523:Myo16	APN	8	10370908	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
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
R8679:Myo16	UTSW	8	10361042	missense	unknown
R8700:Myo16	UTSW	8	10413172	missense	unknown
R8939:Myo16	UTSW	8	10474679	missense	probably damaging	0.99
R8955:Myo16	UTSW	8	10376175	missense	probably damaging	1.00
R8968:Myo16	UTSW	8	10569700	missense	unknown
R9187:Myo16	UTSW	8	10442233	missense	unknown
R9219:Myo16	UTSW	8	10442236	missense	unknown
R9287:Myo16	UTSW	8	10476114	missense	unknown
R9327:Myo16	UTSW	8	10439705	critical splice donor site	probably null
X0066:Myo16	UTSW	8	10376185	missense	probably damaging	1.00
Z1177:Myo16	UTSW	8	10474691	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGATTCTGATCCTTAGTACCCTGG -3'
(R):5'- TGCGATCAGTAACCCACAGC -3'

Sequencing Primer
(F):5'- TGATCCTTAGTACCCTGGATATTTG -3'
(R):5'- AGGAGAACACTGGCTCTCTCTC -3'

Posted On

2015-11-11