Mutagenetix > Incidental Mutation

Incidental Mutation 'R7903:Myo16'

610093

Institutional Source

Beutler Lab

Gene Symbol

Myo16

Ensembl Gene

ENSMUSG00000039057

Gene Name

myosin XVI

Synonyms

C230040D10Rik, BM140241, Nyap3

MMRRC Submission

045955-MU

Accession Numbers

Essential gene?

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

Stock #

R7903 (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 10426265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 341 (S341G)

Ref Sequence

ENSEMBL: ENSMUSP00000146677 (fasta)

Gene Model

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

AlphaFold

Q5DU14

Predicted Effect

probably null
Transcript: ENSMUST00000042103
AA Change: S341G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049345
Gene: ENSMUSG00000039057
AA Change: S341G

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

probably null
Transcript: ENSMUST00000207204
AA Change: S341G

Predicted Effect

probably null
Transcript: ENSMUST00000207477
AA Change: S341G

Predicted Effect

probably null
Transcript: ENSMUST00000208309
AA Change: S341G

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.3393

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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
2700062C07Rik	T	C	18: 24,608,783 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,195,215 (GRCm39)	T596S	probably benign	Het
Aggf1	T	C	13: 95,492,966 (GRCm39)	K548E	probably damaging	Het
Anapc15	T	G	7: 101,547,193 (GRCm39)	V23G	probably benign	Het
Atp10a	T	C	7: 58,308,570 (GRCm39)	L123P	probably damaging	Het
Brf2	G	A	8: 27,616,121 (GRCm39)	T88M	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc14	A	T	16: 34,525,280 (GRCm39)	H191L	probably damaging	Het
Cdc42bpg	T	A	19: 6,363,499 (GRCm39)	V453E	possibly damaging	Het
Corin	T	C	5: 72,458,843 (GRCm39)	K1110E	probably benign	Het
Cubn	T	C	2: 13,473,680 (GRCm39)	D421G	probably damaging	Het
D130043K22Rik	T	G	13: 25,059,995 (GRCm39)	V622G	probably damaging	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Dnah3	A	G	7: 119,641,351 (GRCm39)	S1190P	probably damaging	Het
Eif4a3l2	A	G	6: 116,528,212 (GRCm39)	T30A	probably benign	Het
Elavl1	T	C	8: 4,351,756 (GRCm39)	K120R	probably benign	Het
Epb41l3	T	A	17: 69,581,332 (GRCm39)		probably null	Het
Fubp1	G	A	3: 151,920,498 (GRCm39)	W79*	probably null	Het
Gsto2	T	A	19: 47,873,096 (GRCm39)	I157N	possibly damaging	Het
Gucy2d	A	G	7: 98,108,272 (GRCm39)	D735G	probably damaging	Het
H2-D1	A	T	17: 35,482,967 (GRCm39)	I166F	probably damaging	Het
Hars2	C	A	18: 36,919,245 (GRCm39)	R128S	probably damaging	Het
Igf1r	T	C	7: 67,834,500 (GRCm39)	F496S	probably damaging	Het
Inf2	T	C	12: 112,578,988 (GRCm39)	V1256A	unknown	Het
Kif19b	T	C	5: 140,461,767 (GRCm39)	V523A	probably damaging	Het
Krt34	A	T	11: 99,932,321 (GRCm39)	M1K	probably null	Het
Lamtor2	T	C	3: 88,459,817 (GRCm39)	N26D	possibly damaging	Het
Map3k10	T	C	7: 27,357,382 (GRCm39)	T799A	probably damaging	Het
Map3k8	T	C	18: 4,349,162 (GRCm39)	D52G	probably benign	Het
Mcm10	T	C	2: 5,000,613 (GRCm39)	T693A	probably benign	Het
Mgarp	G	T	3: 51,304,119 (GRCm39)	A10E		Het
Mns1	A	T	9: 72,360,093 (GRCm39)	E414D	probably benign	Het
Nags	A	T	11: 102,037,503 (GRCm39)	D198V	possibly damaging	Het
Nedd4l	C	T	18: 65,319,438 (GRCm39)	P464S	probably damaging	Het
Nicol1	T	A	5: 34,140,910 (GRCm39)		probably null	Het
Nsfl1c	T	C	2: 151,338,522 (GRCm39)	Y42H	probably damaging	Het
Obscn	T	C	11: 58,969,942 (GRCm39)	M67V	probably benign	Het
Or2b28	T	A	13: 21,532,046 (GRCm39)	I316K	probably benign	Het
Pcsk5	A	T	19: 17,549,847 (GRCm39)	L715Q	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pfkfb4	A	T	9: 108,828,019 (GRCm39)	N64Y	probably damaging	Het
Pidd1	A	G	7: 141,019,744 (GRCm39)	F673L	probably damaging	Het
Pla2g7	A	G	17: 43,911,512 (GRCm39)		probably null	Het
Pml	T	C	9: 58,156,867 (GRCm39)	E36G	probably benign	Het
Proser1	C	A	3: 53,386,503 (GRCm39)	S795*	probably null	Het
Ptprs	T	A	17: 56,731,960 (GRCm39)	K1016*	probably null	Het
Rbfox1	T	A	16: 7,042,375 (GRCm39)	S76R	probably benign	Het
Reck	A	T	4: 43,927,166 (GRCm39)	I486F	possibly damaging	Het
Rnf103	A	T	6: 71,486,138 (GRCm39)	K256N	probably damaging	Het
Setd2	A	T	9: 110,446,905 (GRCm39)	N713I		Het
Slc38a4	C	T	15: 96,906,809 (GRCm39)	G310S	probably benign	Het
Slc7a4	C	T	16: 17,393,145 (GRCm39)	R218H	probably benign	Het
Slc7a7	T	C	14: 54,611,366 (GRCm39)	H344R	probably damaging	Het
Smarcc1	G	A	9: 110,033,334 (GRCm39)	E810K	probably benign	Het
Sord	T	A	2: 122,093,706 (GRCm39)	M275K	probably benign	Het
Spire2	C	A	8: 124,095,489 (GRCm39)	P631T	probably benign	Het
Sult6b1	T	C	17: 79,198,279 (GRCm39)	K207R	probably benign	Het
Syde2	T	A	3: 145,704,543 (GRCm39)	D498E	probably damaging	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Tdrd9	T	A	12: 112,018,410 (GRCm39)	D1276E	possibly damaging	Het
Tm7sf2	A	G	19: 6,121,365 (GRCm39)	F219S	probably damaging	Het
Tmcc2	C	T	1: 132,288,199 (GRCm39)	G496D	probably benign	Het
Tmtc4	G	A	14: 123,165,060 (GRCm39)	H600Y	probably benign	Het
Vmn1r224	A	T	17: 20,640,309 (GRCm39)	L295F	probably benign	Het
Vmn1r91	T	C	7: 19,835,135 (GRCm39)	I18T	possibly damaging	Het
Vwa7	G	A	17: 35,236,763 (GRCm39)	R110H	probably damaging	Het
Wbp2nl	C	T	15: 82,190,332 (GRCm39)	Q87*	probably null	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
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'- GGAAGTGTTGATCCATTCCCC -3'
(R):5'- ATGATGAACTCAACGTCAGCAATC -3'

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

Posted On

2019-12-20