Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Smyd4'

383734

Institutional Source

Beutler Lab

Gene Symbol

Smyd4

Ensembl Gene

ENSMUSG00000018809

Gene Name

SET and MYND domain containing 4

Synonyms

G430029E23Rik

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75348433-75405705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75382294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 60 (S60L)

Ref Sequence

ENSEMBL: ENSMUSP00000047505 (fasta)

Gene Model

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

AlphaFold

Q8BTK5

Predicted Effect

probably benign
Transcript: ENSMUST00000044530
AA Change: S60L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: S60L

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: ENSMUST00000157055

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Smyd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Smyd4	APN	11	75390808	missense	probably benign
IGL02372:Smyd4	APN	11	75390285	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GACAATCAGTGCTCTCTGCTC -3'
(R):5'- TGGACTGGTTATGAGTCTGCAC -3'

Sequencing Primer
(F):5'- TTGGATCACATAGTGCATAGAGCCC -3'
(R):5'- GTTATGAGTCTGCACTTTGCC -3'

Posted On

2016-04-27