Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Smyd4'

296197

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 #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

75239259-75296531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75281507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 327 (W327R)

Ref Sequence

ENSEMBL: ENSMUSP00000047505 (fasta)

Gene Model

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

AlphaFold

Q8BTK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000044530
AA Change: W327R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: W327R

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,654,788 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Klhl24	A	T	16: 19,934,693 (GRCm39)	R389*	probably null	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Krt4	T	A	15: 101,827,727 (GRCm39)	I469F	unknown	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Sash1	A	G	10: 8,605,676 (GRCm39)	S905P	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,801,718 (GRCm39)	I49T	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Usp21	A	G	1: 171,112,596 (GRCm39)	I266T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	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
IGL02623:Smyd4	APN	11	75,280,890 (GRCm39)	splice site	probably benign
IGL02661:Smyd4	APN	11	75,281,767 (GRCm39)	nonsense	probably null
IGL03084:Smyd4	APN	11	75,281,433 (GRCm39)	missense	probably benign	0.00
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

2015-04-16