Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Myo16'

629347

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R8081 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

10203911-10684742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 10372743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 147 (L147F)

Ref Sequence

ENSEMBL: ENSMUSP00000146677 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

probably damaging
Transcript: ENSMUST00000042103
AA Change: L147F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: L147F

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: L147F

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: L147F

Predicted Effect

probably damaging
Transcript: ENSMUST00000208309
AA Change: L147F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214643
AA Change: L169F

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dennd1c	G	A	17: 57,381,139 (GRCm39)	P163L	possibly damaging	Het
Dhtkd1	C	T	2: 5,928,919 (GRCm39)	E251K	probably damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Mcm6	T	C	1: 128,265,905 (GRCm39)	E622G	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j3	A	T	7: 139,952,972 (GRCm39)	L184M	probably damaging	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Picalm	T	A	7: 89,840,451 (GRCm39)	L540*	probably null	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Samhd1	A	T	2: 156,943,358 (GRCm39)	C605*	probably null	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	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
R7622:Myo16	UTSW	8	10,426,238 (GRCm39)	missense	unknown
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
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'- CAGTGGTGCTTGCATCATTG -3'
(R):5'- GCTTGTCATGACACAGACATG -3'

Sequencing Primer
(F):5'- GCATCATTGCTATAGCTTGTGTTTC -3'
(R):5'- TGCTTTCCCCCAAAGTAG -3'

Posted On

2020-06-30