Incidental Mutation 'R5578:Smyd4'
ID 437312
Institutional Source Beutler Lab
Gene Symbol Smyd4
Ensembl Gene ENSMUSG00000018809
Gene Name SET and MYND domain containing 4
Synonyms G430029E23Rik
MMRRC Submission 043133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5578 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75239259-75296531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75295602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 753 (P753S)
Ref Sequence ENSEMBL: ENSMUSP00000047505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000769] [ENSMUST00000044530]
AlphaFold Q8BTK5
Predicted Effect probably benign
Transcript: ENSMUST00000000769
SMART Domains Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 62 414 5.22e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044530
AA Change: P753S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: P753S

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,926,932 (GRCm39) S521P probably benign Het
Aqp11 A G 7: 97,386,665 (GRCm39) F177S probably damaging Het
Arhgap40 G T 2: 158,373,126 (GRCm39) G128V probably damaging Het
Aspm A T 1: 139,398,455 (GRCm39) K1011I probably damaging Het
Cachd1 A G 4: 100,722,203 (GRCm39) T89A probably benign Het
Cep89 ACTCCTCCTCCTCCTCCTCCTCCTC ACTCCTCCTCCTCCTCCTCCTC 7: 35,109,067 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,758,806 (GRCm39) C81* probably null Het
Chd7 A G 4: 8,847,149 (GRCm39) T1631A probably benign Het
Clca4b T A 3: 144,638,196 (GRCm39) D22V probably benign Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp39a1 T A 17: 43,991,031 (GRCm39) N113K possibly damaging Het
Dnah11 A T 12: 117,982,537 (GRCm39) V2544D probably damaging Het
Dnai3 A T 3: 145,802,983 (GRCm39) Y69* probably null Het
Esr1 A C 10: 4,919,164 (GRCm39) Q418P probably damaging Het
Fam89a T A 8: 125,467,968 (GRCm39) K115* probably null Het
Fstl4 T A 11: 53,056,608 (GRCm39) V455D probably damaging Het
Gm20730 T A 6: 43,058,474 (GRCm39) M113L probably benign Het
H2ac21 T C 3: 96,127,554 (GRCm39) V108A probably damaging Het
Hk3 C T 13: 55,159,994 (GRCm39) V327M probably damaging Het
Itm2c T A 1: 85,830,774 (GRCm39) V57E possibly damaging Het
Lrba T C 3: 86,664,814 (GRCm39) Y565H probably benign Het
Mab21l1 C T 3: 55,691,435 (GRCm39) Q341* probably null Het
Mdm2 C T 10: 117,538,192 (GRCm39) E69K possibly damaging Het
Mdn1 A T 4: 32,728,167 (GRCm39) I2709F probably benign Het
Mpp7 T C 18: 7,355,101 (GRCm39) N442D probably benign Het
Ncoa3 A G 2: 165,896,248 (GRCm39) I384V probably benign Het
Pm20d1 A G 1: 131,743,760 (GRCm39) N475S probably benign Het
Rhpn2 A G 7: 35,070,135 (GRCm39) D131G probably damaging Het
S1pr5 T A 9: 21,155,847 (GRCm39) Y193F probably damaging Het
Sdk1 A T 5: 141,598,880 (GRCm39) K182* probably null Het
Slx4 T A 16: 3,804,726 (GRCm39) E696V probably damaging Het
Stambp T G 6: 83,538,782 (GRCm39) D206A probably benign Het
Sult5a1 G T 8: 123,869,860 (GRCm39) Y262* probably null Het
Taar1 A T 10: 23,796,718 (GRCm39) I139F possibly damaging Het
Tchh A T 3: 93,351,618 (GRCm39) R353* probably null Het
Thnsl2 C T 6: 71,115,749 (GRCm39) V153I probably benign Het
Trmt5 C T 12: 73,331,837 (GRCm39) probably null Het
Trpa1 T A 1: 14,957,232 (GRCm39) Y728F probably damaging Het
Usp19 T C 9: 108,370,639 (GRCm39) V126A probably benign Het
Vcan A G 13: 89,839,622 (GRCm39) V1974A probably benign Het
Vmn2r120 T A 17: 57,829,514 (GRCm39) H461L probably benign Het
Zfp445 T C 9: 122,682,402 (GRCm39) Y513C probably benign Het
Zfp84 A C 7: 29,474,856 (GRCm39) M43L possibly 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
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
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'- CTTTGCAGTATGCCCGTGAATG -3'
(R):5'- TCTCAGTCATCACCAGAGCTCC -3'

Sequencing Primer
(F):5'- CTATACTTTCAGATGGTAAGACCCTG -3'
(R):5'- ACCAGAGCTCCTTCTTGAGGG -3'
Posted On 2016-10-26