Incidental Mutation 'R1075:Smyd4'
ID 85620
Institutional Source Beutler Lab
Gene Symbol Smyd4
Ensembl Gene ENSMUSG00000018809
Gene Name SET and MYND domain containing 4
Synonyms G430029E23Rik
MMRRC Submission 039161-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1075 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75239259-75296531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75291164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 589 (Y589H)
Ref Sequence ENSEMBL: ENSMUSP00000047505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044530]
AlphaFold Q8BTK5
Predicted Effect probably damaging
Transcript: ENSMUST00000044530
AA Change: Y589H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: Y589H

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T C 4: 32,822,232 (GRCm39) H179R probably damaging Het
Apbb2 G T 5: 66,460,021 (GRCm39) P692Q probably damaging Het
Arhgap40 A G 2: 158,391,567 (GRCm39) N627D possibly damaging Het
Asns G A 6: 7,676,076 (GRCm39) R465* probably null Het
Bdkrb1 G A 12: 105,570,562 (GRCm39) V43I probably benign Het
Bod1 T C 11: 31,621,514 (GRCm39) D63G possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Csnka2ip T A 16: 64,298,310 (GRCm39) K685* probably null Het
Dennd5a A T 7: 109,517,808 (GRCm39) D609E probably benign Het
Dhx34 G C 7: 15,952,274 (GRCm39) T117S probably benign Het
Dpp4 A T 2: 62,182,630 (GRCm39) D550E probably benign Het
Enah C T 1: 181,784,066 (GRCm39) R81K unknown Het
Epha5 G T 5: 84,298,254 (GRCm39) A383E probably damaging Het
Epha5 C T 5: 84,298,255 (GRCm39) A383T probably damaging Het
Etnppl A T 3: 130,423,212 (GRCm39) M298L probably benign Het
Fam81a G A 9: 70,017,556 (GRCm39) R130* probably null Het
Fbxl3 A C 14: 103,332,839 (GRCm39) H46Q probably benign Het
Gal3st1 A G 11: 3,948,509 (GRCm39) I239V possibly damaging Het
H2-T15 C T 17: 36,367,038 (GRCm39) G335D probably benign Het
Htra4 T C 8: 25,523,612 (GRCm39) I318V probably benign Het
Igdcc4 A G 9: 65,038,932 (GRCm39) T906A possibly damaging Het
Il7r T C 15: 9,516,543 (GRCm39) N86S probably benign Het
Mettl17 A G 14: 52,127,063 (GRCm39) N231D probably benign Het
Mki67 T C 7: 135,299,040 (GRCm39) D1998G probably benign Het
Myh15 G T 16: 48,940,417 (GRCm39) R789L possibly damaging Het
Myh7 A G 14: 55,224,860 (GRCm39) V569A probably benign Het
Nell1 A G 7: 50,503,588 (GRCm39) I617M probably damaging Het
Nlrp1b C G 11: 71,072,512 (GRCm39) E444Q probably benign Het
Or10ak16 T C 4: 118,750,402 (GRCm39) S41P probably damaging Het
Or2b4 T A 17: 38,116,660 (GRCm39) L208* probably null Het
Or2y8 T A 11: 52,035,677 (GRCm39) I227F possibly damaging Het
Psmd2 T C 16: 20,478,709 (GRCm39) S603P probably damaging Het
Slc4a2 T A 5: 24,644,055 (GRCm39) I913N possibly damaging Het
Spag17 A G 3: 100,000,992 (GRCm39) E1850G probably damaging Het
Srsf11 A T 3: 157,718,427 (GRCm39) probably benign Het
Stra6 A T 9: 58,058,687 (GRCm39) N488I possibly damaging Het
Supt20 C T 3: 54,614,362 (GRCm39) Q160* probably null Het
Tbc1d2b G A 9: 90,104,393 (GRCm39) P583L possibly damaging Het
Uchl1 T A 5: 66,839,808 (GRCm39) F117I probably damaging Het
Usf1 T A 1: 171,245,677 (GRCm39) N307K probably benign Het
Zfp994 T A 17: 22,419,926 (GRCm39) H341L probably damaging 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
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
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'- GGAAACGTATCCACTTTCACCCGTG -3'
(R):5'- TCCTGGCGACTGACAACCTTTAGC -3'

Sequencing Primer
(F):5'- gctagtgtctatcactgagcc -3'
(R):5'- TTAGCTGGAGCCCTGCC -3'
Posted On 2013-11-18