Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Smyd5'

268991

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

040669-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85431989-85446435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85442211 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 292 (E292K)

Ref Sequence

ENSEMBL: ENSMUSP00000048537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032080] [ENSMUST00000045693] [ENSMUST00000113770] [ENSMUST00000126805]

Predicted Effect

probably benign
Transcript: ENSMUST00000032080

SMART Domains

Protein: ENSMUSP00000032080
Gene: ENSMUSG00000030008

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:PA	61	154	4.9e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045693
AA Change: E292K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706
AA Change: E292K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113770

SMART Domains

Protein: ENSMUSP00000109400
Gene: ENSMUSG00000030008

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126805

SMART Domains

Protein: ENSMUSP00000145290
Gene: ENSMUSG00000030008

Domain	Start	End	E-Value	Type
SCOP:d1a9xa2	20	54	9e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204428

Meta Mutation Damage Score

0.4646

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
R5092:Smyd5	UTSW	6	85445203	unclassified	probably benign
R6114:Smyd5	UTSW	6	85440262	intron	probably benign
R6581:Smyd5	UTSW	6	85432023	missense	probably damaging	0.99
R7191:Smyd5	UTSW	6	85440111	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGGTGGGGTCCTTACTCTAAAAG -3'
(R):5'- CACCATGGAGTCTCTGGATG -3'

Sequencing Primer
(F):5'- TGGGGTCCTTACTCTAAAAGAAAAG -3'
(R):5'- CTCTGGATGGGTCTCAGGAC -3'

Posted On

2015-02-19