Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Myo16'

557804

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

BM140241, C230040D10Rik, Nyap3

MMRRC Submission

Accession Numbers

Genbank: NM_001081397; MGI: 2685951

Essential gene?

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

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10153911-10634742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10569585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1379 (T1379S)

Ref Sequence

ENSEMBL: ENSMUSP00000146677 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042103
AA Change: T1379S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: T1379S

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: T1323S

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: T1379S

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	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
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
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
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'- GGGATACACTGGTTACTGACTC -3'
(R):5'- TCATACACAGACTCGCCCTG -3'

Sequencing Primer
(F):5'- CGCCTTAGCTCTGACACG -3'
(R):5'- ACAGACTCGCCCTGGTCAG -3'

Posted On

2019-06-26