Mutagenetix > Incidental Mutation

Incidental Mutation 'R4033:Smyd4'

313593

Institutional Source

Beutler Lab

Gene Symbol

Smyd4

Ensembl Gene

ENSMUSG00000018809

Gene Name

SET and MYND domain containing 4

Synonyms

G430029E23Rik

MMRRC Submission

040961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75348433-75405705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75349754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 25 (D25G)

Ref Sequence

ENSEMBL: ENSMUSP00000047505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000767] [ENSMUST00000044530] [ENSMUST00000092907]

AlphaFold

Q8BTK5

Predicted Effect

probably benign
Transcript: ENSMUST00000000767

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751

Domain	Start	End	E-Value	Type
Pfam:Rep-A_N	5	93	7.2e-30	PFAM
low complexity region	145	175	N/A	INTRINSIC
Pfam:tRNA_anti-codon	227	316	5e-13	PFAM
Pfam:REPA_OB_2	335	432	5e-37	PFAM
Pfam:Rep_fac-A_C	491	636	4.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044530
AA Change: D25G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: D25G

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

probably benign
Transcript: ENSMUST00000092907

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751

Domain	Start	End	E-Value	Type
Pfam:Rep-A_N	5	104	4.3e-35	PFAM
low complexity region	124	154	N/A	INTRINSIC
Pfam:tRNA_anti-codon	206	295	8.4e-13	PFAM
SCOP:d1fgua2	308	435	8e-46	SMART
Pfam:Rep_fac-A_C	470	615	9.2e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157055

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	G	T	1: 59,196,241	S761R	probably benign	Het
Ankrd63	C	A	2: 118,702,931		probably benign	Het
Brf1	G	A	12: 112,979,732	T166M	probably damaging	Het
C530008M17Rik	A	G	5: 76,858,465	N891S	unknown	Het
Car9	T	C	4: 43,508,624	V131A	possibly damaging	Het
Cerk	T	G	15: 86,155,027	H221P	possibly damaging	Het
Cfap69	A	T	5: 5,604,389	I458N	possibly damaging	Het
Chil4	T	C	3: 106,214,449	Y28C	probably damaging	Het
Dmxl1	A	G	18: 49,851,431	T165A	possibly damaging	Het
Erich6b	A	T	14: 75,658,767	N31I	probably benign	Het
Fgf17	G	T	14: 70,641,526		probably benign	Het
Fhit	A	T	14: 10,751,671		probably benign	Het
Fnip1	A	T	11: 54,502,471	I578L	probably benign	Het
Gm17641	C	T	3: 68,869,813	R36W	probably damaging	Het
Gm5346	C	G	8: 43,626,673	M171I	probably benign	Het
Gprin2	A	T	14: 34,194,678	D378E	probably benign	Het
Grhl3	T	A	4: 135,573,424	M1L	probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Ifih1	G	A	2: 62,635,190	S212L	probably benign	Het
Iqck	T	C	7: 118,941,604	I242T	probably damaging	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Lsm14b	A	G	2: 180,031,516	K195E	probably benign	Het
Mical1	G	A	10: 41,481,176	V326I	probably benign	Het
Mtnr1b	A	T	9: 15,863,534	N76K	probably damaging	Het
Nalcn	T	C	14: 123,599,989		probably benign	Het
Nop14	T	C	5: 34,650,517	D367G	probably benign	Het
Nrxn3	T	C	12: 89,533,001	C721R	probably damaging	Het
Olfr558	C	T	7: 102,709,490	T77I	probably damaging	Het
Prr27	G	T	5: 87,843,305	E259*	probably null	Het
Psmg3	G	A	5: 139,826,331	P5S	probably damaging	Het
Pxdn	A	G	12: 30,003,225	T1134A	probably benign	Het
Rbm28	T	C	6: 29,159,669	N120S	probably damaging	Het
Reg3b	A	T	6: 78,373,209	K157N	possibly damaging	Het
Rlf	T	G	4: 121,147,343	Q1480P	probably damaging	Het
Slc16a12	A	T	19: 34,675,167	L193Q	probably damaging	Het
Smo	G	A	6: 29,759,918	R672H	probably damaging	Het
Sorbs2	C	G	8: 45,775,595	D264E	probably damaging	Het
Tctn3	G	T	19: 40,597,323	Q593K	probably benign	Het
Tdrd9	A	T	12: 111,992,539	I136L	possibly damaging	Het
Tshz3	G	A	7: 36,770,584	S666N	possibly damaging	Het
Ubn1	C	T	16: 5,064,611	T69M	probably damaging	Het
Unk	A	T	11: 116,053,527	H368L	probably benign	Het
Zan	A	T	5: 137,437,860	L2051*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGGTGAATTGGTACCACAC -3'
(R):5'- GTAACTGCTAAATGCCCCATAC -3'

Sequencing Primer
(F):5'- CCCCAGAAGAAATGATTTTGGTTGC -3'
(R):5'- GCAGAACATTTTCCAGACC -3'

Posted On

2015-04-30