Incidental Mutation 'IGL02504:Smyd4'
ID 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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02504
Quality Score
Status
Chromosome 11
Chromosomal Location 75348433-75405705 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75390681 bp (GRCm38)
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,517,439 N142I probably benign Het
Asf1b A G 8: 83,955,829 M1V probably null Het
Astn1 T C 1: 158,502,408 C278R probably damaging Het
Ccdc162 A T 10: 41,552,388 L692Q probably damaging Het
Cd207 T A 6: 83,677,806 probably benign Het
Chd5 T A 4: 152,363,322 N548K probably damaging Het
Col7a1 G A 9: 108,980,675 G2659D unknown Het
Cpa6 A T 1: 10,488,919 Y75N probably benign Het
Cspg4 G T 9: 56,885,772 V264L probably benign Het
Cyp3a25 T A 5: 145,993,331 I155L probably benign Het
Dock6 A G 9: 21,846,655 I51T probably benign Het
Dse G T 10: 34,152,800 Q765K probably benign Het
Fam219b A T 9: 57,538,068 M87L probably benign Het
Fat3 G A 9: 15,959,798 R3766C probably damaging Het
Fcnb A C 2: 28,076,594 M309R probably damaging Het
Fnbp4 C A 2: 90,768,543 N670K probably damaging Het
Fsip2 T A 2: 82,978,855 N1839K possibly damaging Het
G6pc2 A G 2: 69,226,595 H195R probably damaging Het
Gm14179 A T 11: 99,743,177 Het
Grm5 A G 7: 88,130,772 N1172S probably benign Het
Hsd17b14 A G 7: 45,556,375 T64A possibly damaging Het
Hspb7 G T 4: 141,421,820 E12D probably benign Het
Kdm2a T C 19: 4,356,771 N155D possibly damaging Het
Klhl24 A T 16: 20,115,943 R389* probably null Het
Kmt2b A G 7: 30,586,543 probably benign Het
Krt4 T A 15: 101,919,292 I469F unknown Het
Mto1 A T 9: 78,460,927 D451V probably damaging Het
Muc5b A T 7: 141,846,440 D477V unknown Het
Pcsk5 A G 19: 17,477,872 probably null Het
Ppil4 T A 10: 7,820,984 Y420* probably null Het
Ppp2r5d A T 17: 46,700,093 D27E probably benign Het
Prkd2 T C 7: 16,857,832 L596P probably damaging Het
Prr30 T C 14: 101,198,620 I169V probably benign Het
Rtl9 A T X: 143,102,291 T900S probably benign Het
Sash1 A G 10: 8,729,912 S905P probably benign Het
Scn2a G A 2: 65,683,884 G304D probably benign Het
Scp2d1 T C 2: 144,823,957 L72P probably damaging Het
Sept2 T A 1: 93,500,481 H166Q probably benign Het
Sgcb A G 5: 73,644,375 I49T probably damaging Het
Sptbn1 C T 11: 30,142,293 E491K probably damaging Het
Tcaf1 A T 6: 42,679,279 H254Q probably benign Het
Tll1 A C 8: 64,070,237 D480E possibly damaging Het
Tlr3 G A 8: 45,397,907 T127M probably damaging Het
Trio A T 15: 27,847,390 C929* probably null Het
Ttn C T 2: 76,798,150 W12809* probably null Het
Ugt2b35 T A 5: 87,001,541 M217K possibly damaging Het
Unc13b T C 4: 43,263,031 V4261A probably damaging Het
Uqcrc2 T C 7: 120,643,031 I82T probably benign Het
Usp21 A G 1: 171,285,023 I266T probably benign Het
Veph1 A T 3: 66,172,130 H321Q probably damaging Het
Vmn1r29 A C 6: 58,307,670 Y125S probably benign Het
Other mutations in Smyd4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Z1176:Smyd4 UTSW 11 75399614 missense probably benign 0.03
Posted On 2015-04-16