Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02372:Smyd4'

290960

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smyd4

Ensembl Gene

ENSMUSG00000018809

Gene Name

SET and MYND domain containing 4

Synonyms

G430029E23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

75348433-75405705 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75390285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 195 (K195*)

Ref Sequence

ENSEMBL: ENSMUSP00000047505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044530]

AlphaFold

Q8BTK5

Predicted Effect

probably null
Transcript: ENSMUST00000044530
AA Change: K195*

SMART Domains

Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: K195*

Domain	Start	End	E-Value	Type
Pfam:TPR_11	65	132	2.4e-10	PFAM
SET	231	576	4.85e-1	SMART
Blast:TPR	694	726	1e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145888

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit testicular degeneration and atrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Smyd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Smyd4	APN	11	75390808	missense	probably benign
IGL02390:Smyd4	APN	11	75387506	splice site	probably null
IGL02492:Smyd4	APN	11	75403426	missense	probably benign
IGL02504:Smyd4	APN	11	75390681	missense	probably damaging	1.00
IGL02623:Smyd4	APN	11	75390064	splice site	probably benign
IGL02661:Smyd4	APN	11	75390941	nonsense	probably null
IGL03084:Smyd4	APN	11	75390607	missense	probably benign	0.00
PIT4431001:Smyd4	UTSW	11	75403513	missense	probably damaging	1.00
R0507:Smyd4	UTSW	11	75399708	missense	possibly damaging	0.69
R0834:Smyd4	UTSW	11	75391132	missense	possibly damaging	0.94
R1075:Smyd4	UTSW	11	75400338	missense	probably damaging	1.00
R1215:Smyd4	UTSW	11	75390295	missense	possibly damaging	0.96
R1759:Smyd4	UTSW	11	75382366	missense	probably damaging	1.00
R2496:Smyd4	UTSW	11	75391101	missense	probably benign	0.03
R2862:Smyd4	UTSW	11	75390136	missense	probably benign	0.12
R4033:Smyd4	UTSW	11	75349754	missense	probably benign	0.06
R4655:Smyd4	UTSW	11	75390732	missense	probably damaging	1.00
R4775:Smyd4	UTSW	11	75391192	missense	probably damaging	1.00
R4801:Smyd4	UTSW	11	75403184	missense	probably damaging	1.00
R4802:Smyd4	UTSW	11	75403184	missense	probably damaging	1.00
R4963:Smyd4	UTSW	11	75382294	missense	probably benign	0.01
R5306:Smyd4	UTSW	11	75402158	missense	probably benign	0.00
R5327:Smyd4	UTSW	11	75390939	missense	probably damaging	1.00
R5386:Smyd4	UTSW	11	75390156	missense	probably damaging	1.00
R5578:Smyd4	UTSW	11	75404776	missense	probably benign	0.03
R7038:Smyd4	UTSW	11	75390514	missense	probably damaging	1.00
R7271:Smyd4	UTSW	11	75390499	missense	possibly damaging	0.90
R7312:Smyd4	UTSW	11	75390256	missense	probably benign	0.18
R7576:Smyd4	UTSW	11	75390206	missense	probably benign	0.03
R7904:Smyd4	UTSW	11	75349787	missense	possibly damaging	0.80
R8387:Smyd4	UTSW	11	75402158	missense	probably benign	0.00
R8816:Smyd4	UTSW	11	75390406	missense	probably benign	0.24
R9235:Smyd4	UTSW	11	75404863	missense	probably benign	0.00
R9436:Smyd4	UTSW	11	75402191	missense	probably damaging	1.00
R9786:Smyd4	UTSW	11	75390799	missense	probably benign	0.06
Z1176:Smyd4	UTSW	11	75399614	missense	probably benign	0.03

Posted On

2015-04-16