Incidental Mutation 'R3499:Smyd5'
ID 273701
Institutional Source Beutler Lab
Gene Symbol Smyd5
Ensembl Gene ENSMUSG00000033706
Gene Name SET and MYND domain containing 5
Synonyms Rrg1, NN8-4AG, Rai15
MMRRC Submission 040662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3499 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85408971-85423417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85415172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 60 (L60H)
Ref Sequence ENSEMBL: ENSMUSP00000048537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045693]
AlphaFold Q3TYX3
Predicted Effect probably damaging
Transcript: ENSMUST00000045693
AA Change: L60H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706
AA Change: L60H

DomainStartEndE-ValueType
SET 21 357 8.15e-14 SMART
low complexity region 392 412 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204428
Meta Mutation Damage Score 0.1016 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A T 9: 107,219,678 (GRCm39) T44S probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ctif A T 18: 75,744,828 (GRCm39) L92Q possibly damaging Het
Dnah11 C A 12: 117,874,758 (GRCm39) D4036Y probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnah6 G C 6: 73,009,616 (GRCm39) A3725G probably benign Het
Ebag9 A G 15: 44,493,528 (GRCm39) N117D probably benign Het
Elf4 C T X: 47,507,942 (GRCm39) E158K probably benign Het
Ephb6 C T 6: 41,593,093 (GRCm39) R444* probably null Het
Fcgbpl1 T A 7: 27,853,980 (GRCm39) I1648K probably benign Het
Fndc1 C T 17: 7,972,416 (GRCm39) M1505I possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Kif13a T C 13: 46,978,815 (GRCm39) D195G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ksr2 C A 5: 117,827,640 (GRCm39) T473K probably damaging Het
Kxd1 T C 8: 70,966,632 (GRCm39) probably null Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Macf1 A T 4: 123,421,098 (GRCm39) L52* probably null Het
Mrgprb5 A G 7: 47,818,661 (GRCm39) S25P probably benign Het
Nucb1 T C 7: 45,148,300 (GRCm39) H171R probably benign Het
Or10d1c A G 9: 38,893,761 (GRCm39) L193P probably damaging Het
Or4a15 A T 2: 89,193,294 (GRCm39) F160I probably benign Het
Or56b35 G A 7: 104,963,607 (GRCm39) C132Y probably damaging Het
Or8h8 A G 2: 86,753,373 (GRCm39) F168L possibly damaging Het
Or8k18 A G 2: 86,085,185 (GRCm39) M284T possibly damaging Het
Prkdc A T 16: 15,585,889 (GRCm39) I2476F probably damaging Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ralgapa1 T G 12: 55,741,928 (GRCm39) probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc28a3 C T 13: 58,721,253 (GRCm39) probably benign Het
Slc44a4 A G 17: 35,140,656 (GRCm39) D283G probably benign Het
Slc6a9 A G 4: 117,714,000 (GRCm39) I105V probably benign Het
Smgc A G 15: 91,726,206 (GRCm39) T51A possibly damaging Het
Spred1 A T 2: 117,005,867 (GRCm39) M210L probably benign Het
Syne2 G A 12: 76,101,752 (GRCm39) probably null Het
Tab3 T C X: 84,658,727 (GRCm39) I418T probably benign Het
Tbc1d12 A T 19: 38,884,478 (GRCm39) E343V possibly damaging Het
Tktl2 T A 8: 66,965,897 (GRCm39) I485N probably damaging Het
Tmem181a T A 17: 6,330,894 (GRCm39) Y51* probably null Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Trip11 A G 12: 101,859,953 (GRCm39) I307T possibly damaging Het
Ttf1 T C 2: 28,955,499 (GRCm39) S288P possibly damaging Het
Zfp395 G T 14: 65,628,742 (GRCm39) R198L possibly damaging Het
Other mutations in Smyd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03065:Smyd5 APN 6 85,419,146 (GRCm39) missense possibly damaging 0.75
IGL03261:Smyd5 APN 6 85,409,000 (GRCm39) missense probably benign 0.05
R0383:Smyd5 UTSW 6 85,417,155 (GRCm39) nonsense probably null
R1957:Smyd5 UTSW 6 85,415,121 (GRCm39) missense probably benign 0.01
R1988:Smyd5 UTSW 6 85,415,118 (GRCm39) missense possibly damaging 0.93
R2049:Smyd5 UTSW 6 85,421,300 (GRCm39) missense probably benign 0.01
R3552:Smyd5 UTSW 6 85,419,193 (GRCm39) missense probably damaging 0.99
R5092:Smyd5 UTSW 6 85,422,185 (GRCm39) unclassified probably benign
R6114:Smyd5 UTSW 6 85,417,244 (GRCm39) intron probably benign
R6581:Smyd5 UTSW 6 85,409,005 (GRCm39) missense probably damaging 0.99
R7191:Smyd5 UTSW 6 85,417,093 (GRCm39) missense probably benign 0.10
R7868:Smyd5 UTSW 6 85,421,297 (GRCm39) missense probably damaging 1.00
R8995:Smyd5 UTSW 6 85,415,829 (GRCm39) nonsense probably null
R9391:Smyd5 UTSW 6 85,418,739 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGCCTGAAACTACTTATCCC -3'
(R):5'- GAGCATTTTGGAGGCACCTC -3'

Sequencing Primer
(F):5'- AAACTACTTATCCCCCTGTTTCCATG -3'
(R):5'- TCCCATCGCAGGTACACAG -3'
Posted On 2015-04-02