Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Myo16'

224152

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

BM140241, C230040D10Rik, Nyap3

MMRRC Submission

040031-MU

Accession Numbers

Genbank: NM_001081397; MGI: 2685951

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10153911-10634742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10272633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 21 (K21R)

Ref Sequence

ENSEMBL: ENSMUSP00000049345 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

probably benign
Transcript: ENSMUST00000042103
AA Change: K21R

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: K21R

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: K21R

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: K21R

Predicted Effect

probably benign
Transcript: ENSMUST00000208309
AA Change: K21R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000214643
AA Change: K43R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1cl	T	A	1: 65,014,698	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,347,227	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,365,282	M1K	probably null	Het
Atp4b	A	C	8: 13,387,477	N225K	possibly damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Cactin	C	T	10: 81,322,893	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418	H1423N	probably benign	Het
Chd9	T	C	8: 91,035,054	Y2256H	probably benign	Het
Chst8	A	G	7: 34,675,164	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,010,652		probably null	Het
Clec5a	A	T	6: 40,585,194	V12E	probably damaging	Het
Crebbp	C	T	16: 4,085,819	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,812,780		probably benign	Het
Dip2c	T	C	13: 9,551,800	L265P	probably damaging	Het
Dnah3	A	G	7: 119,951,242	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,027,422	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,276,221	S362P	probably damaging	Het
Dst	G	A	1: 34,166,291	V1025I	possibly damaging	Het
Dym	T	C	18: 75,080,250	V181A	probably benign	Het
Elk3	T	A	10: 93,265,677	I71F	probably damaging	Het
Epb41l4a	C	T	18: 33,921,840	S65N	probably benign	Het
Erap1	T	A	13: 74,666,508	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,472,665	I231F	probably damaging	Het
Fahd1	T	C	17: 24,849,840	I88V	probably benign	Het
Fam120b	C	T	17: 15,424,376	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Frem1	G	T	4: 82,913,558	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,447,597	T161S	probably benign	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gm597	A	T	1: 28,778,153	V266D	probably damaging	Het
Gm6309	C	T	5: 146,168,311	G264D	probably benign	Het
Gm9268	A	G	7: 43,024,030	N171D	probably benign	Het
Hsd11b1	T	C	1: 193,240,378	T124A	probably benign	Het
Ino80b	A	G	6: 83,124,372	M119T	probably damaging	Het
Kif3a	G	A	11: 53,570,581	V17M	probably damaging	Het
Krt40	T	A	11: 99,539,992	E285D	probably damaging	Het
Lair1	C	G	7: 4,063,064		probably null	Het
Lvrn	A	G	18: 46,866,436	T290A	possibly damaging	Het
Macf1	G	T	4: 123,472,730	A2746E	probably damaging	Het
Matn4	A	G	2: 164,400,653	V175A	probably damaging	Het
Mok	A	T	12: 110,811,823	D216E	probably benign	Het
Muc15	A	T	2: 110,731,476	T86S	probably benign	Het
Ncl	A	G	1: 86,356,955		probably null	Het
Nfrkb	C	T	9: 31,411,250	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,597,278	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,384,796	Y453N	probably damaging	Het
Notch4	T	C	17: 34,587,528	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,376,352	D515V	probably damaging	Het
Nsd1	T	C	13: 55,213,279	V20A	probably damaging	Het
Olfr825	T	C	10: 130,163,180	M49V	probably benign	Het
Opn4	T	A	14: 34,597,071	T186S	probably benign	Het
Pcdh15	T	G	10: 74,631,193	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,294,914	E24V	possibly damaging	Het
Pigg	A	T	5: 108,312,922		probably benign	Het
Plscr2	A	G	9: 92,295,594	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723	I76V	probably benign	Het
Prdm6	A	G	18: 53,464,959		probably benign	Het
Prex1	A	G	2: 166,575,614	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,225,458	R65*	probably null	Het
Prom1	G	T	5: 44,029,726	D396E	probably benign	Het
Ptcd3	C	T	6: 71,885,553	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Rab36	T	C	10: 75,052,474	I250T	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,078,452	V302A	probably benign	Het
Slc22a16	T	C	10: 40,591,877	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,716	N262D	possibly damaging	Het
Sptan1	C	T	2: 30,007,561	A1212V	probably damaging	Het
Ssr1	C	T	13: 37,989,549	A79T	probably damaging	Het
Tctex1d4	A	G	4: 117,128,307	E109G	possibly damaging	Het
Tiam1	T	A	16: 89,877,187	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,238,792	F280S	probably damaging	Het
Tmem72	T	C	6: 116,696,839	H106R	probably damaging	Het
Tnr	A	G	1: 159,852,022	I189V	probably benign	Het
Tpbpa	T	A	13: 60,940,222	N50I	probably benign	Het
Tshz1	T	A	18: 84,013,862	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,448,722	A131T	possibly damaging	Het
Usp16	T	C	16: 87,473,126	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,611,510	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,637,401	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,527,991	L60P	probably damaging	Het
Vps51	T	C	19: 6,071,582	E162G	probably benign	Het
Wdr66	G	A	5: 123,273,790	G495D	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,793,990		probably benign	Het
Zdhhc4	C	T	5: 143,321,783	R161H	probably damaging	Het
Zfp456	A	T	13: 67,366,497	C363*	probably null	Het
Zfp541	T	A	7: 16,082,185	S866T	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
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
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'- TCAGGAACACAGTGAGCTTTG -3'
(R):5'- GAAGGCATACCCTCTTTGTCATG -3'

Sequencing Primer
(F):5'- TATAGACTCTCATGGCCATGGAC -3'
(R):5'- CATACCCTCTTTGTCATGATGGTGG -3'

Posted On

2014-08-25