Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Smyd5'

512199

Institutional Source

Beutler Lab

Gene Symbol

Smyd5

Ensembl Gene

ENSMUSG00000033706

Gene Name

SET and MYND domain containing 5

Synonyms

NN8-4AG, Rai15, Rrg1

MMRRC Submission

044263-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6114 (G1)

Quality Score

106.008

Status

Validated

Chromosome

Chromosomal Location

85431989-85446435 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 85440262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045693]

AlphaFold

Q3TYX3

Predicted Effect

probably benign
Transcript: ENSMUST00000045693

SMART Domains

Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706

Domain	Start	End	E-Value	Type
SET	21	357	8.15e-14	SMART
low complexity region	392	412	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204428

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het

Other mutations in Smyd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03065:Smyd5	APN	6	85442164	missense	possibly damaging	0.75
IGL03261:Smyd5	APN	6	85432018	missense	probably benign	0.05
R0383:Smyd5	UTSW	6	85440173	nonsense	probably null
R1957:Smyd5	UTSW	6	85438139	missense	probably benign	0.01
R1988:Smyd5	UTSW	6	85438136	missense	possibly damaging	0.93
R2049:Smyd5	UTSW	6	85444318	missense	probably benign	0.01
R3499:Smyd5	UTSW	6	85438190	missense	probably damaging	1.00
R3552:Smyd5	UTSW	6	85442211	missense	probably damaging	0.99
R5092:Smyd5	UTSW	6	85445203	unclassified	probably benign
R6581:Smyd5	UTSW	6	85432023	missense	probably damaging	0.99
R7191:Smyd5	UTSW	6	85440111	missense	probably benign	0.10
R7868:Smyd5	UTSW	6	85444315	missense	probably damaging	1.00
R8995:Smyd5	UTSW	6	85438847	nonsense	probably null
R9391:Smyd5	UTSW	6	85441757	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTTCATGCTGGGTTTGC -3'
(R):5'- AGGGCTTGCCAACTCAAAAC -3'

Sequencing Primer
(F):5'- GCTTGGCTCTGCTCCTAGG -3'
(R):5'- CCTTGAAAACAGAAGGCCATAG -3'

Posted On

2018-04-11