Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Myo16'

349194

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

MMRRC Submission

041896-MU

Accession Numbers

Essential gene?

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

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10203911-10684742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10556984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1040 (I1040T)

Ref Sequence

ENSEMBL: ENSMUSP00000049345 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

probably damaging
Transcript: ENSMUST00000042103
AA Change: I1040T

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

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: I1040T

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: I984T

Predicted Effect

unknown
Transcript: ENSMUST00000207477
AA Change: I1040T

Meta Mutation Damage Score

0.7515

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,270 (GRCm39)	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,803,146 (GRCm39)	P661S	possibly damaging	Het
Adgre4	T	G	17: 56,121,305 (GRCm39)	M457R	probably null	Het
Ank	C	A	15: 27,467,176 (GRCm39)	F29L	probably benign	Het
Arhgap20	T	C	9: 51,751,653 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,574,766 (GRCm39)		probably null	Het
Bhmt1b	G	A	18: 87,774,525 (GRCm39)	R16H	probably damaging	Het
Bod1l	A	G	5: 41,975,078 (GRCm39)	F2079L	probably damaging	Het
Cd163	T	C	6: 124,306,045 (GRCm39)	*1122Q	probably null	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,926,697 (GRCm39)	Y558H	probably benign	Het
Ctsm	T	A	13: 61,685,510 (GRCm39)	S301C	probably null	Het
Dlc1	A	C	8: 37,404,712 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,737,822 (GRCm39)	I435F	probably damaging	Het
Dnah5	T	C	15: 28,402,099 (GRCm39)	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,420,140 (GRCm39)	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,067,616 (GRCm39)	M1181T	probably damaging	Het
Drc3	C	A	11: 60,255,734 (GRCm39)	T107N	probably benign	Het
Dydc2	T	C	14: 40,771,286 (GRCm39)	E131G	probably benign	Het
Eif5b	T	C	1: 38,080,828 (GRCm39)	V723A	probably damaging	Het
Fndc9	C	A	11: 46,128,675 (GRCm39)	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Gps1	T	A	11: 120,679,065 (GRCm39)		probably null	Het
Gvin3	A	G	7: 106,198,730 (GRCm39)		noncoding transcript	Het
Kazn	G	A	4: 141,845,471 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,942,821 (GRCm39)		noncoding transcript	Het
Kif19a	A	G	11: 114,675,673 (GRCm39)	I382V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Malsu1	A	T	6: 49,061,467 (GRCm39)	E177V	probably damaging	Het
Man2a2	A	G	7: 80,012,211 (GRCm39)	F649L	probably benign	Het
Map3k11	A	G	19: 5,740,941 (GRCm39)	I223V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh9	T	G	15: 77,681,228 (GRCm39)	D164A	probably damaging	Het
Myo18b	C	T	5: 112,994,266 (GRCm39)	A896T	probably damaging	Het
Myocd	G	T	11: 65,069,685 (GRCm39)	N798K	probably benign	Het
Or13c7b	T	C	4: 43,820,563 (GRCm39)	D266G	probably benign	Het
Or1n1b	T	G	2: 36,780,630 (GRCm39)	T77P	probably benign	Het
Or2l13b	G	A	16: 19,348,891 (GRCm39)	R260*	probably null	Het
Or4c11	C	T	2: 88,695,174 (GRCm39)	T75I	probably benign	Het
Or4g7	T	A	2: 111,309,908 (GRCm39)	W260R	probably damaging	Het
Or52a5	A	T	7: 103,426,682 (GRCm39)	L290Q	probably damaging	Het
Or5b105	T	A	19: 13,080,636 (GRCm39)	I11F	probably benign	Het
Pcdh18	T	A	3: 49,710,890 (GRCm39)	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,366,212 (GRCm39)	E334G	possibly damaging	Het
Pcyox1	T	C	6: 86,366,125 (GRCm39)	D363G	probably benign	Het
Pgm2	A	G	5: 64,263,290 (GRCm39)		probably null	Het
Plagl1	T	G	10: 13,003,743 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537 (GRCm39)	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,503,699 (GRCm39)	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,704,412 (GRCm39)	K279E	probably benign	Het
Rnf111	G	T	9: 70,357,678 (GRCm39)	T607N	probably benign	Het
Scn8a	C	A	15: 100,914,384 (GRCm39)	S1130*	probably null	Het
Selenbp1	A	G	3: 94,851,879 (GRCm39)	*473W	probably null	Het
Sh3bp4	A	C	1: 89,071,995 (GRCm39)	D281A	probably damaging	Het
Skint5	T	A	4: 113,486,314 (GRCm39)		probably null	Het
Slc1a4	A	G	11: 20,258,452 (GRCm39)	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,662 (GRCm39)	S222T	probably benign	Het
Slc7a4	A	G	16: 17,392,255 (GRCm39)	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,801,078 (GRCm39)	D536V	possibly damaging	Het
Stra6	T	A	9: 58,048,115 (GRCm39)		probably benign	Het
Tmem145	A	G	7: 25,007,250 (GRCm39)	D156G	probably benign	Het
Tns3	A	C	11: 8,401,119 (GRCm39)	F1060V	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trappc8	A	G	18: 21,000,865 (GRCm39)	S273P	probably benign	Het
Trmt11	A	G	10: 30,435,200 (GRCm39)	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,066,980 (GRCm39)	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,490,758 (GRCm39)	C192Y	probably benign	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,829,962 (GRCm39)	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,278 (GRCm39)	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 45,020,698 (GRCm39)	E1427D	probably benign	Het
Zbed6	A	T	1: 133,586,482 (GRCm39)	V285E	probably damaging	Het
Zbtb26	A	G	2: 37,326,968 (GRCm39)	F23L	probably benign	Het
Zfp62	T	A	11: 49,108,632 (GRCm39)	*908R	probably null	Het
Zfp975	A	T	7: 42,312,369 (GRCm39)	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918 (GRCm39)	V198M	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
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
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'- TGTATACATACACACATGCTGAACC -3'
(R):5'- GCATCAATGTAGCATCTCCACAG -3'

Sequencing Primer
(F):5'- TGCATAATACACAAACACGTTCATGG -3'
(R):5'- ATGTAGCATCTCCACAGAGGGC -3'

Posted On

2015-10-08