Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03261:Smyd5'

414822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smyd5

Ensembl Gene

ENSMUSG00000033706

Gene Name

SET and MYND domain containing 5

Synonyms

NN8-4AG, Rai15, Rrg1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03261

Quality Score

Status

Chromosome

Chromosomal Location

85431989-85446435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85432018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 5 (M5K)

Ref Sequence

ENSEMBL: ENSMUSP00000048537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045693] [ENSMUST00000089578]

AlphaFold

Q3TYX3

Predicted Effect

probably benign
Transcript: ENSMUST00000045693
AA Change: M5K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706
AA Change: M5K

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: ENSMUST00000089578

SMART Domains

Protein: ENSMUSP00000087006
Gene: ENSMUSG00000068302

Domain	Start	End	E-Value	Type
HOX	149	211	4.04e-22	SMART
low complexity region	213	225	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152218

Predicted Effect

probably benign
Transcript: ENSMUST00000174469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204615

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	G	7: 27,580,438	Y281*	probably null	Het
5830411N06Rik	A	G	7: 140,294,833	H408R	probably benign	Het
Adamts3	T	C	5: 89,882,897		probably benign	Het
Afp	T	C	5: 90,491,751		probably null	Het
Ap1g2	T	C	14: 55,100,530	T634A	probably benign	Het
Cidec	A	G	6: 113,433,172	V32A	probably benign	Het
Dip2a	G	A	10: 76,305,148	P315S	possibly damaging	Het
Hoxc11	T	C	15: 102,954,743	V73A	probably benign	Het
Jmjd1c	A	G	10: 67,232,070	Y1784C	probably damaging	Het
Mmp21	A	G	7: 133,674,674	V480A	probably benign	Het
Nek4	C	T	14: 30,975,290	T471I	probably benign	Het
Nr4a2	A	G	2: 57,110,187	V299A	probably benign	Het
Olfr761	A	T	17: 37,952,806	S73T	possibly damaging	Het
Olfr774	A	G	10: 129,238,403	T85A	possibly damaging	Het
Ptprg	A	G	14: 12,225,552	D505G	probably damaging	Het
Rag2	A	G	2: 101,630,263	D306G	probably damaging	Het
Rpap2	T	A	5: 107,598,560	S38T	possibly damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Slx4ip	A	T	2: 137,046,739	R113S	probably benign	Het
Stkld1	A	T	2: 26,952,777	H587L	probably benign	Het
Taf4b	A	G	18: 14,821,528	T554A	probably benign	Het
Tex16	C	A	X: 112,118,855	D350E	possibly damaging	Het
Tex38	T	C	4: 115,780,526	K27E	possibly damaging	Het
Trdv4	T	C	14: 54,075,418	L83P	possibly damaging	Het
Ugt2a3	G	A	5: 87,336,580	P195L	probably damaging	Het
Vmn1r120	A	G	7: 21,053,525	L87P	probably damaging	Het
Zfp236	T	C	18: 82,630,608	D916G	possibly 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
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
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
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

Posted On

2016-08-02