Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Myo16'

359526

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

BM140241, C230040D10Rik, Nyap3

MMRRC Submission

042025-MU

Accession Numbers

Genbank: NM_001081397; MGI: 2685951

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R4739 (G1)

Quality Score

225

Status

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: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

96% (102/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	T	1: 158,969,334		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,567,506		probably benign	Het
Aadat	T	C	8: 60,540,106	V360A	probably benign	Het
Abcc5	T	A	16: 20,399,626	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,812,020	K155N	probably damaging	Het
Acot3	T	C	12: 84,058,590	I277T	probably benign	Het
Ankrd45	G	A	1: 161,155,390	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,697,999	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,982,845	N677T	probably benign	Het
Atg13	A	G	2: 91,684,695	S254P	probably damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Avl9	T	A	6: 56,726,309	V120D	probably damaging	Het
Cc2d1b	T	C	4: 108,628,042	V527A	probably benign	Het
Ccnl1	A	G	3: 65,946,671		probably benign	Het
Cenpl	T	A	1: 161,083,267	D261E	probably damaging	Het
Cep192	T	G	18: 67,851,732	I1604M	probably benign	Het
Cep95	A	G	11: 106,815,734	I573V	probably benign	Het
Cfap100	A	G	6: 90,412,843		probably null	Het
Cmc1	T	A	9: 118,075,177	M49L	probably benign	Het
Cyfip2	G	T	11: 46,279,993	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,356,675	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,196,036	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,460,976	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,207,777	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,533,339	L119Q	probably damaging	Het
Dnah3	T	C	7: 120,077,946	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,275,189	N432Y	possibly damaging	Het
Dst	T	A	1: 34,191,147	I2785N	probably benign	Het
Dynap	A	T	18: 70,241,225	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 138,183,199	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 138,198,097	S1584T	probably benign	Het
Enpp1	A	T	10: 24,679,248	C67S	probably null	Het
Enpp5	C	T	17: 44,081,136	T152I	probably damaging	Het
Erbb4	T	C	1: 68,343,900	M313V	probably damaging	Het
Erc2	T	G	14: 27,776,881	L238R	probably damaging	Het
Eya3	T	A	4: 132,721,387		probably benign	Het
Farp1	T	C	14: 121,238,787	F339L	probably damaging	Het
Fsip2	A	C	2: 82,975,353	D672A	possibly damaging	Het
Gap43	G	T	16: 42,292,218	P60Q	probably benign	Het
Gatsl3	A	G	11: 4,219,004	E57G	possibly damaging	Het
Gpr37l1	T	A	1: 135,167,045	I154F	probably damaging	Het
Greb1	A	G	12: 16,696,328	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,348,442	M3167L	probably benign	Het
Hps3	C	T	3: 20,030,410		probably null	Het
Hps5	A	G	7: 46,786,589	C178R	probably benign	Het
Hspg2	T	A	4: 137,570,073		probably benign	Het
Impdh2-ps	A	G	8: 100,031,207		noncoding transcript	Het
Josd2	T	A	7: 44,471,254	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,292,097	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,413,080	V323M	probably damaging	Het
Myo18a	T	C	11: 77,823,323	Y748H	probably damaging	Het
Narfl	A	T	17: 25,781,309	H322L	probably damaging	Het
Nek1	A	T	8: 61,098,511	N853I	probably benign	Het
Npnt	T	G	3: 132,904,691	T272P	possibly damaging	Het
Olfr11	T	A	13: 21,639,170	M118L	possibly damaging	Het
Olfr1390	G	A	11: 49,341,321	G263D	probably benign	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Olfr668	G	A	7: 104,924,810	T318I	possibly damaging	Het
Olfr694	C	A	7: 106,689,144	E196*	probably null	Het
Olfr76	A	G	19: 12,119,870	Y269H	possibly damaging	Het
Pappa2	T	G	1: 158,957,002	D146A	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pcsk9	C	T	4: 106,447,156	G496R	probably damaging	Het
Pes1	A	G	11: 3,964,058	K8E	probably damaging	Het
Phlpp2	G	A	8: 109,940,420	G1194S	probably damaging	Het
Pkn1	A	C	8: 83,671,749	V763G	probably damaging	Het
Pkp2	C	A	16: 16,230,724	A331E	probably damaging	Het
Plb1	T	A	5: 32,349,679		probably null	Het
Plxna1	A	T	6: 89,332,675		probably null	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Prkag3	T	C	1: 74,740,705	*490W	probably null	Het
Prl2c1	T	C	13: 27,857,678	C228R	probably damaging	Het
Pus7l	T	C	15: 94,540,710	S85G	probably benign	Het
Rfc3	A	C	5: 151,644,776		probably benign	Het
Riox2	A	G	16: 59,489,369	N362S	probably benign	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Scaper	A	T	9: 55,743,648	D904E	probably damaging	Het
Scn11a	T	C	9: 119,754,561	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,430,289	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,434,997	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,209,917	M66K	probably damaging	Het
Styk1	T	G	6: 131,300,466	E404A	probably damaging	Het
Synj1	T	A	16: 90,955,419	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,120,111		probably null	Het
Tmem87a	A	G	2: 120,360,037		probably null	Het
Trappc9	T	G	15: 72,937,060	Y718S	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,327,195	G397R	probably damaging	Het
Wdr33	T	A	18: 31,886,086	M454K	probably benign	Het
Wdtc1	G	T	4: 133,301,799	N325K	possibly damaging	Het
Whrn	T	C	4: 63,418,165	H720R	probably damaging	Het
Xirp2	A	T	2: 67,519,265	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 11,141,709	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,674,498	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,805,329	T901M	probably 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
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
R4738: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
R9763:Myo16	UTSW	8	10400528	missense	unknown
R9765:Myo16	UTSW	8	10570401	missense	probably damaging	0.97
R9790:Myo16	UTSW	8	10569925	missense	unknown
R9791:Myo16	UTSW	8	10569925	missense	unknown
X0066:Myo16	UTSW	8	10376185	missense	probably damaging	1.00
Z1177:Myo16	UTSW	8	10474691	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATTCTGATCCTTAGTACCCTGG -3'
(R):5'- TGGCTTTACCCACTGCGATC -3'

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

Posted On

2015-11-11