Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03084:Smyd4'

417990

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 #

IGL03084

Quality Score

Status

Chromosome

Chromosomal Location

75239259-75296531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75281433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 302 (H302R)

Ref Sequence

ENSEMBL: ENSMUSP00000047505 (fasta)

Gene Model

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

AlphaFold

Q8BTK5

Predicted Effect

probably benign
Transcript: ENSMUST00000044530
AA Change: H302R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: H302R

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,768,261 (GRCm39)	V211L	probably damaging	Het
BC024139	T	C	15: 76,004,007 (GRCm39)	D753G	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cachd1	T	A	4: 100,860,285 (GRCm39)	D1285E	probably damaging	Het
Cacna1b	T	C	2: 24,499,944 (GRCm39)	T147A	probably benign	Het
Cdc14a	A	G	3: 116,142,101 (GRCm39)		probably null	Het
Cfhr4	T	A	1: 139,708,880 (GRCm39)	L9F	possibly damaging	Het
Chd1	A	G	17: 15,990,560 (GRCm39)	H1704R	probably benign	Het
Dmkn	T	G	7: 30,470,481 (GRCm39)	N367K	possibly damaging	Het
Fam151b	C	A	13: 92,604,534 (GRCm39)	D152Y	probably damaging	Het
Gabrg3	T	C	7: 56,384,812 (GRCm39)	S250G	possibly damaging	Het
Gm28042	A	G	2: 119,870,986 (GRCm39)	Q833R	probably benign	Het
Gnpat	A	C	8: 125,605,638 (GRCm39)	Y336S	probably damaging	Het
Ighv1-54	G	A	12: 115,157,736 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,485,036 (GRCm39)		probably benign	Het
Kif2c	T	C	4: 117,035,355 (GRCm39)	N31S	possibly damaging	Het
Larp1	T	A	11: 57,947,921 (GRCm39)	L939Q	probably damaging	Het
Lrrc69	G	A	4: 14,708,631 (GRCm39)	P238S	probably damaging	Het
Lypd10	T	C	7: 24,413,605 (GRCm39)	I207T	possibly damaging	Het
Lztfl1	C	T	9: 123,538,641 (GRCm39)	G152E	probably damaging	Het
Man2a2	T	C	7: 80,002,691 (GRCm39)	T1097A	possibly damaging	Het
Myh4	A	G	11: 67,142,777 (GRCm39)		probably null	Het
Nab2	C	T	10: 127,500,346 (GRCm39)	V249M	probably damaging	Het
Nid2	A	T	14: 19,819,000 (GRCm39)	D498V	probably benign	Het
Nrap	T	C	19: 56,353,886 (GRCm39)	T404A	probably damaging	Het
Or51i1	A	G	7: 103,670,838 (GRCm39)	V229A	probably benign	Het
Or5al7	A	T	2: 85,992,569 (GRCm39)	C241*	probably null	Het
Or5c1	T	C	2: 37,222,413 (GRCm39)	I218T	probably damaging	Het
Or8c9	T	G	9: 38,241,513 (GRCm39)	I210S	probably damaging	Het
Pard3	A	G	8: 128,319,573 (GRCm39)	I1104V	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppfia3	A	G	7: 44,989,651 (GRCm39)	V1187A	probably benign	Het
Ppp1r16b	G	A	2: 158,603,413 (GRCm39)	W346*	probably null	Het
Rpl4	A	G	9: 64,085,599 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,915,053 (GRCm39)	I1206F	probably damaging	Het
Slc5a2	T	C	7: 127,865,776 (GRCm39)	S61P	probably benign	Het
Smarcal1	T	C	1: 72,638,094 (GRCm39)		probably null	Het
Sntb1	A	G	15: 55,655,487 (GRCm39)	I243T	probably damaging	Het
Stx8	C	T	11: 67,911,782 (GRCm39)	Q167*	probably null	Het
Sycp2	C	A	2: 178,033,584 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,626,742 (GRCm39)	V13088D	probably damaging	Het
Ugt2b1	T	A	5: 87,074,243 (GRCm39)	M39L	probably benign	Het
Utp6	A	T	11: 79,853,042 (GRCm39)		probably null	Het
Vmn1r189	A	T	13: 22,286,008 (GRCm39)	Y276*	probably null	Het
Vmn2r11	T	A	5: 109,207,209 (GRCm39)	D37V	probably benign	Het
Vmn2r16	T	G	5: 109,478,292 (GRCm39)	F16V	probably damaging	Het
Vmn2r65	A	T	7: 84,592,354 (GRCm39)	M538K	probably damaging	Het
Zfp143	T	A	7: 109,668,818 (GRCm39)		probably benign	Het

Other mutations in Smyd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Smyd4	APN	11	75,281,634 (GRCm39)	missense	probably benign
IGL02372:Smyd4	APN	11	75,281,111 (GRCm39)	nonsense	probably null
IGL02390:Smyd4	APN	11	75,278,332 (GRCm39)	splice site	probably null
IGL02492:Smyd4	APN	11	75,294,252 (GRCm39)	missense	probably benign
IGL02504:Smyd4	APN	11	75,281,507 (GRCm39)	missense	probably damaging	1.00
IGL02623:Smyd4	APN	11	75,280,890 (GRCm39)	splice site	probably benign
IGL02661:Smyd4	APN	11	75,281,767 (GRCm39)	nonsense	probably null
PIT4431001:Smyd4	UTSW	11	75,294,339 (GRCm39)	missense	probably damaging	1.00
R0507:Smyd4	UTSW	11	75,290,534 (GRCm39)	missense	possibly damaging	0.69
R0834:Smyd4	UTSW	11	75,281,958 (GRCm39)	missense	possibly damaging	0.94
R1075:Smyd4	UTSW	11	75,291,164 (GRCm39)	missense	probably damaging	1.00
R1215:Smyd4	UTSW	11	75,281,121 (GRCm39)	missense	possibly damaging	0.96
R1759:Smyd4	UTSW	11	75,273,192 (GRCm39)	missense	probably damaging	1.00
R2496:Smyd4	UTSW	11	75,281,927 (GRCm39)	missense	probably benign	0.03
R2862:Smyd4	UTSW	11	75,280,962 (GRCm39)	missense	probably benign	0.12
R4033:Smyd4	UTSW	11	75,240,580 (GRCm39)	missense	probably benign	0.06
R4655:Smyd4	UTSW	11	75,281,558 (GRCm39)	missense	probably damaging	1.00
R4775:Smyd4	UTSW	11	75,282,018 (GRCm39)	missense	probably damaging	1.00
R4801:Smyd4	UTSW	11	75,294,010 (GRCm39)	missense	probably damaging	1.00
R4802:Smyd4	UTSW	11	75,294,010 (GRCm39)	missense	probably damaging	1.00
R4963:Smyd4	UTSW	11	75,273,120 (GRCm39)	missense	probably benign	0.01
R5306:Smyd4	UTSW	11	75,292,984 (GRCm39)	missense	probably benign	0.00
R5327:Smyd4	UTSW	11	75,281,765 (GRCm39)	missense	probably damaging	1.00
R5386:Smyd4	UTSW	11	75,280,982 (GRCm39)	missense	probably damaging	1.00
R5578:Smyd4	UTSW	11	75,295,602 (GRCm39)	missense	probably benign	0.03
R7038:Smyd4	UTSW	11	75,281,340 (GRCm39)	missense	probably damaging	1.00
R7271:Smyd4	UTSW	11	75,281,325 (GRCm39)	missense	possibly damaging	0.90
R7312:Smyd4	UTSW	11	75,281,082 (GRCm39)	missense	probably benign	0.18
R7576:Smyd4	UTSW	11	75,281,032 (GRCm39)	missense	probably benign	0.03
R7904:Smyd4	UTSW	11	75,240,613 (GRCm39)	missense	possibly damaging	0.80
R8387:Smyd4	UTSW	11	75,292,984 (GRCm39)	missense	probably benign	0.00
R8816:Smyd4	UTSW	11	75,281,232 (GRCm39)	missense	probably benign	0.24
R9235:Smyd4	UTSW	11	75,295,689 (GRCm39)	missense	probably benign	0.00
R9436:Smyd4	UTSW	11	75,293,017 (GRCm39)	missense	probably damaging	1.00
R9786:Smyd4	UTSW	11	75,281,625 (GRCm39)	missense	probably benign	0.06
Z1176:Smyd4	UTSW	11	75,290,440 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02