Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Myo16'

589199

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

MMRRC Submission

045717-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10203911-10684742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10426238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 332 (I332V)

Ref Sequence

ENSEMBL: ENSMUSP00000146677 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042103
AA Change: I332V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: I332V

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: I332V

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: I332V

Predicted Effect

probably benign
Transcript: ENSMUST00000208309
AA Change: I332V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	G	A	5: 129,216,688 (GRCm39)	D384N	probably benign	Het
Aqp8	T	C	7: 123,065,883 (GRCm39)	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,107,339 (GRCm39)	Y207C	probably damaging	Het
Bltp1	C	A	3: 37,002,562 (GRCm39)	C1502*	probably null	Het
Cbfa2t2	A	G	2: 154,342,365 (GRCm39)	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,261,206 (GRCm39)	E201A	unknown	Het
Cfap54	A	C	10: 92,792,806 (GRCm39)	V1769G	unknown	Het
Dmxl2	C	T	9: 54,379,502 (GRCm39)	G7S	probably damaging	Het
Dnah6	G	T	6: 73,101,742 (GRCm39)	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,497,688 (GRCm39)	E942G	probably damaging	Het
Fam170a	A	G	18: 50,415,969 (GRCm39)	R324G	probably benign	Het
Gapdhs	G	A	7: 30,438,756 (GRCm39)	T9I	unknown	Het
Gm10320	T	A	13: 98,626,232 (GRCm39)	R51*	probably null	Het
Gm19410	A	T	8: 36,277,501 (GRCm39)	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,323,441 (GRCm39)	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,649,358 (GRCm39)	Q32*	probably null	Het
Klc2	T	C	19: 5,161,660 (GRCm39)	E310G	probably damaging	Het
Krt75	A	G	15: 101,478,707 (GRCm39)	M309T	probably damaging	Het
Lrp11	G	A	10: 7,465,936 (GRCm39)	G41R	unknown	Het
Lrrc52	G	T	1: 167,293,664 (GRCm39)	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,293,665 (GRCm39)	P207T	probably benign	Het
Lrrk2	A	T	15: 91,696,526 (GRCm39)	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,799,094 (GRCm39)	T28M	probably damaging	Het
Myh14	A	G	7: 44,281,846 (GRCm39)	V804A	probably benign	Het
Ncor1	G	T	11: 62,208,794 (GRCm39)	Q1359K	probably benign	Het
Oog3	T	C	4: 143,884,889 (GRCm39)	D349G	probably benign	Het
Or12e1	A	T	2: 87,022,594 (GRCm39)	I188L	probably benign	Het
Or1j21	A	G	2: 36,683,943 (GRCm39)	K232E	probably benign	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or8k53	A	G	2: 86,178,006 (GRCm39)	Y35H	possibly damaging	Het
Pate4	A	G	9: 35,519,595 (GRCm39)	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,475,514 (GRCm39)	S217R	probably benign	Het
Pde1c	G	A	6: 56,103,910 (GRCm39)	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,111,841 (GRCm39)	A1545S		Het
Pign	G	T	1: 105,575,842 (GRCm39)	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,260,090 (GRCm39)	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,666,520 (GRCm39)	V409I	possibly damaging	Het
Prr7	A	G	13: 55,620,609 (GRCm39)	T206A	probably benign	Het
Rnf13	A	T	3: 57,727,955 (GRCm39)	R212*	probably null	Het
Rwdd2b	T	C	16: 87,231,500 (GRCm39)	N218S	probably benign	Het
Serpina3m	A	G	12: 104,355,834 (GRCm39)	D167G	possibly damaging	Het
Slit2	A	T	5: 48,142,547 (GRCm39)	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,364,592 (GRCm39)	T84K	probably damaging	Het
Stab2	A	T	10: 86,709,766 (GRCm39)	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,437,721 (GRCm39)	D650Y	unknown	Het
Tmprss6	A	G	15: 78,330,926 (GRCm39)	S436P	probably benign	Het
Uba2	A	C	7: 33,864,860 (GRCm39)	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692 (GRCm39)	S242L	probably damaging	Het
Vmn1r86	T	G	7: 12,836,685 (GRCm39)	I64L	probably benign	Het
Vmn2r67	A	T	7: 84,785,662 (GRCm39)	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,030,097 (GRCm39)	F641Y	probably damaging	Het
Wdfy4	A	T	14: 32,800,231 (GRCm39)	I1965K		Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wdr90	G	T	17: 26,073,083 (GRCm39)	F837L	probably benign	Het
Xpo4	A	G	14: 57,834,468 (GRCm39)	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,743,033 (GRCm39)	K268E	probably damaging	Het

Other mutations in Myo16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Myo16	APN	8	10,488,889 (GRCm39)	missense	probably damaging	1.00
IGL00567:Myo16	APN	8	10,512,154 (GRCm39)	missense	probably damaging	1.00
IGL00671:Myo16	APN	8	10,411,067 (GRCm39)	missense	probably damaging	1.00
IGL00897:Myo16	APN	8	10,365,518 (GRCm39)	missense	probably damaging	1.00
IGL01458:Myo16	APN	8	10,485,853 (GRCm39)	missense	probably damaging	1.00
IGL01523:Myo16	APN	8	10,420,908 (GRCm39)	missense	probably damaging	1.00
IGL01532:Myo16	APN	8	10,450,551 (GRCm39)	missense	probably benign	0.00
IGL01680:Myo16	APN	8	10,322,630 (GRCm39)	missense	probably damaging	1.00
IGL01747:Myo16	APN	8	10,654,877 (GRCm39)	missense	probably damaging	1.00
IGL02084:Myo16	APN	8	10,411,088 (GRCm39)	missense	probably damaging	0.99
IGL02203:Myo16	APN	8	10,620,132 (GRCm39)	missense	possibly damaging	0.52
IGL02506:Myo16	APN	8	10,440,217 (GRCm39)	missense	probably damaging	1.00
IGL02819:Myo16	APN	8	10,372,600 (GRCm39)	missense	probably damaging	1.00
IGL02935:Myo16	APN	8	10,582,990 (GRCm39)	missense	probably benign	0.41
IGL02943:Myo16	APN	8	10,450,595 (GRCm39)	splice site	probably benign
IGL03347:Myo16	APN	8	10,426,120 (GRCm39)	critical splice acceptor site	probably null
3-1:Myo16	UTSW	8	10,488,869 (GRCm39)	missense	probably damaging	0.99
P0016:Myo16	UTSW	8	10,450,596 (GRCm39)	splice site	probably benign
R0006:Myo16	UTSW	8	10,525,988 (GRCm39)	missense	probably damaging	0.98
R0006:Myo16	UTSW	8	10,525,988 (GRCm39)	missense	probably damaging	0.98
R0033:Myo16	UTSW	8	10,420,955 (GRCm39)	missense	probably damaging	1.00
R0033:Myo16	UTSW	8	10,420,955 (GRCm39)	missense	probably damaging	1.00
R0142:Myo16	UTSW	8	10,619,790 (GRCm39)	missense	probably benign	0.01
R0195:Myo16	UTSW	8	10,365,538 (GRCm39)	splice site	probably benign
R0418:Myo16	UTSW	8	10,619,918 (GRCm39)	missense	probably benign	0.01
R0576:Myo16	UTSW	8	10,612,318 (GRCm39)	critical splice donor site	probably null
R0627:Myo16	UTSW	8	10,489,689 (GRCm39)	missense	probably benign	0.15
R0826:Myo16	UTSW	8	10,426,285 (GRCm39)	splice site	probably benign
R0835:Myo16	UTSW	8	10,322,766 (GRCm39)	missense	probably damaging	1.00
R1015:Myo16	UTSW	8	10,440,183 (GRCm39)	missense	probably benign	0.17
R1052:Myo16	UTSW	8	10,620,181 (GRCm39)	missense	possibly damaging	0.92
R1180:Myo16	UTSW	8	10,446,908 (GRCm39)	missense	probably damaging	1.00
R1185:Myo16	UTSW	8	10,683,624 (GRCm39)	missense	probably damaging	1.00
R1185:Myo16	UTSW	8	10,683,624 (GRCm39)	missense	probably damaging	1.00
R1474:Myo16	UTSW	8	10,552,796 (GRCm39)	missense	probably damaging	1.00
R1484:Myo16	UTSW	8	10,610,145 (GRCm39)	missense	probably damaging	1.00
R1503:Myo16	UTSW	8	10,552,817 (GRCm39)	missense	probably benign	0.44
R1733:Myo16	UTSW	8	10,492,283 (GRCm39)	missense	probably damaging	0.98
R1873:Myo16	UTSW	8	10,322,789 (GRCm39)	missense	probably damaging	1.00
R1885:Myo16	UTSW	8	10,372,656 (GRCm39)	missense	probably damaging	1.00
R1943:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2013:Myo16	UTSW	8	10,552,796 (GRCm39)	missense	probably damaging	1.00
R2019:Myo16	UTSW	8	10,426,260 (GRCm39)	missense	probably benign	0.05
R2022:Myo16	UTSW	8	10,322,633 (GRCm39)	missense	probably benign	0.08
R2214:Myo16	UTSW	8	10,488,803 (GRCm39)	missense	probably damaging	1.00
R2228:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2351:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2352:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2357:Myo16	UTSW	8	10,644,905 (GRCm39)	missense	possibly damaging	0.63
R2566:Myo16	UTSW	8	10,644,820 (GRCm39)	missense	probably benign	0.43
R3402:Myo16	UTSW	8	10,434,719 (GRCm39)	missense	probably benign
R3870:Myo16	UTSW	8	10,492,239 (GRCm39)	missense	probably benign	0.25
R4080:Myo16	UTSW	8	10,612,240 (GRCm39)	missense	probably damaging	1.00
R4498:Myo16	UTSW	8	10,485,869 (GRCm39)	missense	probably benign	0.01
R4631:Myo16	UTSW	8	10,556,984 (GRCm39)	missense	probably damaging	1.00
R4689:Myo16	UTSW	8	10,488,890 (GRCm39)	missense	probably damaging	1.00
R4736:Myo16	UTSW	8	10,423,527 (GRCm39)	missense	probably damaging	1.00
R4738:Myo16	UTSW	8	10,423,527 (GRCm39)	missense	probably damaging	1.00
R4739:Myo16	UTSW	8	10,423,527 (GRCm39)	missense	probably damaging	1.00
R4764:Myo16	UTSW	8	10,485,880 (GRCm39)	missense	probably damaging	1.00
R4778:Myo16	UTSW	8	10,619,694 (GRCm39)	missense	probably damaging	0.97
R4852:Myo16	UTSW	8	10,423,474 (GRCm39)	missense	probably damaging	1.00
R4885:Myo16	UTSW	8	10,488,892 (GRCm39)	missense	probably damaging	0.98
R4993:Myo16	UTSW	8	10,526,094 (GRCm39)	missense	probably damaging	0.99
R5077:Myo16	UTSW	8	10,372,658 (GRCm39)	missense	probably damaging	1.00
R5135:Myo16	UTSW	8	10,526,114 (GRCm39)	missense	probably benign
R5170:Myo16	UTSW	8	10,619,745 (GRCm39)	missense	probably benign	0.30
R5203:Myo16	UTSW	8	10,410,995 (GRCm39)	missense	probably damaging	1.00
R5246:Myo16	UTSW	8	10,612,212 (GRCm39)	nonsense	probably null
R5517:Myo16	UTSW	8	10,610,226 (GRCm39)	missense	probably benign	0.22
R5567:Myo16	UTSW	8	10,372,676 (GRCm39)	missense	probably damaging	1.00
R5694:Myo16	UTSW	8	10,619,606 (GRCm39)	missense	probably benign	0.01
R5749:Myo16	UTSW	8	10,463,245 (GRCm39)	missense	probably benign	0.01
R6131:Myo16	UTSW	8	10,619,877 (GRCm39)	missense	probably benign
R6213:Myo16	UTSW	8	10,420,963 (GRCm39)	critical splice donor site	probably null
R6216:Myo16	UTSW	8	10,365,494 (GRCm39)	missense	probably benign	0.01
R6240:Myo16	UTSW	8	10,420,930 (GRCm39)	missense	probably damaging	1.00
R6628:Myo16	UTSW	8	10,620,638 (GRCm39)	missense	probably damaging	0.99
R6935:Myo16	UTSW	8	10,619,820 (GRCm39)	missense	probably benign	0.37
R6996:Myo16	UTSW	8	10,619,496 (GRCm39)	missense	probably damaging	1.00
R7103:Myo16	UTSW	8	10,619,673 (GRCm39)	missense	unknown
R7164:Myo16	UTSW	8	10,619,585 (GRCm39)	missense	unknown
R7255:Myo16	UTSW	8	10,549,169 (GRCm39)	missense	unknown
R7266:Myo16	UTSW	8	10,322,687 (GRCm39)	missense	unknown
R7319:Myo16	UTSW	8	10,526,185 (GRCm39)	splice site	probably null
R7398:Myo16	UTSW	8	10,612,183 (GRCm39)	missense	unknown
R7442:Myo16	UTSW	8	10,322,537 (GRCm39)	missense	probably damaging	1.00
R7498:Myo16	UTSW	8	10,450,589 (GRCm39)	missense	unknown
R7539:Myo16	UTSW	8	10,411,095 (GRCm39)	critical splice donor site	probably null
R7794:Myo16	UTSW	8	10,619,913 (GRCm39)	missense	unknown
R7903:Myo16	UTSW	8	10,426,265 (GRCm39)	missense	probably null
R8055:Myo16	UTSW	8	10,612,186 (GRCm39)	missense	unknown
R8078:Myo16	UTSW	8	10,612,078 (GRCm39)	missense	unknown
R8081:Myo16	UTSW	8	10,372,743 (GRCm39)	missense	unknown
R8679:Myo16	UTSW	8	10,411,042 (GRCm39)	missense	unknown
R8700:Myo16	UTSW	8	10,463,172 (GRCm39)	missense	unknown
R8939:Myo16	UTSW	8	10,524,679 (GRCm39)	missense	probably damaging	0.99
R8955:Myo16	UTSW	8	10,426,175 (GRCm39)	missense	probably damaging	1.00
R8968:Myo16	UTSW	8	10,619,700 (GRCm39)	missense	unknown
R9187:Myo16	UTSW	8	10,492,233 (GRCm39)	missense	unknown
R9219:Myo16	UTSW	8	10,492,236 (GRCm39)	missense	unknown
R9287:Myo16	UTSW	8	10,526,114 (GRCm39)	missense	unknown
R9327:Myo16	UTSW	8	10,489,705 (GRCm39)	critical splice donor site	probably null
R9763:Myo16	UTSW	8	10,450,528 (GRCm39)	missense	unknown
R9765:Myo16	UTSW	8	10,620,401 (GRCm39)	missense	probably damaging	0.97
R9790:Myo16	UTSW	8	10,619,925 (GRCm39)	missense	unknown
R9791:Myo16	UTSW	8	10,619,925 (GRCm39)	missense	unknown
X0066:Myo16	UTSW	8	10,426,185 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo16	UTSW	8	10,524,691 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGAGGAAGTGTTGATCCATTC -3'
(R):5'- GAACTCAACGTCAGCAATCG -3'

Sequencing Primer
(F):5'- GGAAGTGTTGATCCATTCCCCCTC -3'
(R):5'- CTCAACGTCAGCAATCGAATTTTTGG -3'

Posted On

2019-10-24