Incidental Mutation 'IGL02372:Smyd4'
ID290960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smyd4
Ensembl Gene ENSMUSG00000018809
Gene NameSET and MYND domain containing 4
SynonymsG430029E23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02372
Quality Score
Status
Chromosome11
Chromosomal Location75348433-75405705 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 75390285 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 195 (K195*)
Ref Sequence ENSEMBL: ENSMUSP00000047505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044530]
Predicted Effect probably null
Transcript: ENSMUST00000044530
AA Change: K195*
SMART Domains Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: K195*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A T 11: 97,775,699 Y54N probably damaging Het
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Arc A G 15: 74,672,105 S90P probably damaging Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Ccnb1 A G 13: 100,781,316 Y259H probably damaging Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Ckmt2 A G 13: 91,865,224 V37A probably benign Het
Dpys G T 15: 39,793,271 P467T probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Sbk1 T C 7: 126,291,058 L81P probably damaging Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign Het
Other mutations in Smyd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Smyd4 APN 11 75390808 missense probably benign
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
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
Z1176:Smyd4 UTSW 11 75399614 missense probably benign 0.03
Posted On2015-04-16