Incidental Mutation 'R0507:Smyd4'
ID 47683
Institutional Source Beutler Lab
Gene Symbol Smyd4
Ensembl Gene ENSMUSG00000018809
Gene Name SET and MYND domain containing 4
Synonyms G430029E23Rik
MMRRC Submission 038702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0507 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75239259-75296531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75290534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 545 (S545T)
Ref Sequence ENSEMBL: ENSMUSP00000047505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044530]
AlphaFold Q8BTK5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044530
AA Change: S545T

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: S545T

DomainStartEndE-ValueType
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: ENSMUST00000135774
Meta Mutation Damage Score 0.1723 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,838,655 (GRCm39) probably benign Het
Adamts16 T C 13: 70,916,766 (GRCm39) D742G probably benign Het
Akap9 G A 5: 4,119,043 (GRCm39) E3517K probably benign Het
Arfgef3 T C 10: 18,467,369 (GRCm39) T1944A probably damaging Het
Bsx A G 9: 40,787,796 (GRCm39) probably benign Het
Cct2 A T 10: 116,891,151 (GRCm39) probably null Het
Cdkl4 T C 17: 80,851,237 (GRCm39) D155G probably benign Het
Cep250 C T 2: 155,834,452 (GRCm39) R2126C possibly damaging Het
Cep97 A T 16: 55,726,245 (GRCm39) probably benign Het
Cpne3 C T 4: 19,532,544 (GRCm39) probably benign Het
Csmd1 T C 8: 16,235,358 (GRCm39) probably benign Het
Cx3cr1 C A 9: 119,881,022 (GRCm39) D127Y probably damaging Het
Dcdc2a A G 13: 25,286,572 (GRCm39) Q165R probably damaging Het
Ddx17 A G 15: 79,421,758 (GRCm39) probably benign Het
Dicer1 A G 12: 104,657,917 (GRCm39) S1886P probably damaging Het
Egf T C 3: 129,474,828 (GRCm39) D571G possibly damaging Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Gbp2 G T 3: 142,335,794 (GRCm39) D165Y probably damaging Het
Gm14412 A T 2: 177,006,325 (GRCm39) N523K possibly damaging Het
Gsap C T 5: 21,474,961 (GRCm39) T540I possibly damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Icam4 C A 9: 20,940,799 (GRCm39) P17Q possibly damaging Het
Lyz1 A T 10: 117,125,022 (GRCm39) probably null Het
Matcap1 T C 8: 106,011,351 (GRCm39) N261S probably damaging Het
Mbd6 A G 10: 127,119,389 (GRCm39) probably benign Het
Mroh3 A T 1: 136,118,718 (GRCm39) I533N probably damaging Het
Muc4 A T 16: 32,569,887 (GRCm39) M316L probably benign Het
Myof A G 19: 37,889,725 (GRCm39) I1282T possibly damaging Het
Ncald T G 15: 37,397,528 (GRCm39) I51L probably benign Het
Negr1 T A 3: 156,267,862 (GRCm39) S11T probably damaging Het
Obscn T C 11: 58,920,167 (GRCm39) N6735D probably damaging Het
Or52n4b T C 7: 108,144,292 (GRCm39) S185P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6c1b A T 10: 129,273,157 (GRCm39) M159L probably benign Het
Or9q1 T A 19: 13,805,140 (GRCm39) I207F possibly damaging Het
Otogl A G 10: 107,702,601 (GRCm39) V684A possibly damaging Het
Palm3 A G 8: 84,754,958 (GRCm39) T157A probably benign Het
Pard3 T A 8: 128,097,967 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,457,129 (GRCm39) D1302G probably damaging Het
Pi16 G A 17: 29,546,826 (GRCm39) E467K possibly damaging Het
Plec A T 15: 76,056,983 (GRCm39) I4183N probably damaging Het
Ppp1r13l T C 7: 19,109,739 (GRCm39) L720P possibly damaging Het
Prag1 A G 8: 36,571,277 (GRCm39) E620G probably damaging Het
Ralbp1 G A 17: 66,156,955 (GRCm39) T646M probably benign Het
Rnf182 T G 13: 43,821,823 (GRCm39) S125A probably benign Het
Rpe C T 1: 66,754,300 (GRCm39) T124I probably benign Het
Rufy4 T C 1: 74,185,875 (GRCm39) I514T probably benign Het
Sec13 A T 6: 113,712,080 (GRCm39) I85N probably damaging Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Skint5 T C 4: 113,425,127 (GRCm39) probably null Het
Slc4a3 T A 1: 75,532,725 (GRCm39) I995K probably damaging Het
Steap3 C T 1: 120,169,313 (GRCm39) R328H possibly damaging Het
Tgm6 G A 2: 129,980,751 (GRCm39) E183K possibly damaging Het
Themis T A 10: 28,657,828 (GRCm39) V132E possibly damaging Het
Thsd1 T A 8: 22,748,695 (GRCm39) I461N probably damaging Het
Ttk T G 9: 83,750,120 (GRCm39) S692A probably damaging Het
Twf1 A G 15: 94,483,411 (GRCm39) M99T probably damaging Het
Uchl3 T A 14: 101,904,443 (GRCm39) L89* probably null Het
Uhmk1 A G 1: 170,034,760 (GRCm39) V316A probably damaging Het
Unc80 A G 1: 66,567,052 (GRCm39) N886S possibly damaging Het
Vash2 G T 1: 190,699,115 (GRCm39) probably benign Het
Vmn1r200 G A 13: 22,579,718 (GRCm39) E174K probably benign Het
Vps16 T C 2: 130,279,632 (GRCm39) probably null Het
Wdr73 T C 7: 80,541,594 (GRCm39) E316G possibly damaging Het
Xpo1 T C 11: 23,244,682 (GRCm39) V1020A possibly damaging Het
Ylpm1 T A 12: 85,075,886 (GRCm39) N870K probably benign Het
Zfhx4 C T 3: 5,466,048 (GRCm39) Q2069* probably null Het
Zfp1005 T A 2: 150,110,044 (GRCm39) C245S possibly damaging Het
Zfp512b C A 2: 181,226,757 (GRCm39) probably benign Het
Other mutations in Smyd4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- GACAAATGTCCTGACGCACATTTCC -3'
(R):5'- AGAAGCCAAGAAAGTGCTCCTCG -3'

Sequencing Primer
(F):5'- CTGACGCACATTTCCTTCTG -3'
(R):5'- TTCAGGATAGGCTGTCTACAAG -3'
Posted On 2013-06-12