Incidental Mutation 'R1418:Smyd1'
ID 159915
Institutional Source Beutler Lab
Gene Symbol Smyd1
Ensembl Gene ENSMUSG00000055027
Gene Name SET and MYND domain containing 1
Synonyms Bop, 4632404M21Rik
MMRRC Submission 039474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1418 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71190924-71239265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71239151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 13 (T13I)
Ref Sequence ENSEMBL: ENSMUSP00000133300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074301] [ENSMUST00000114186] [ENSMUST00000114188] [ENSMUST00000129630]
AlphaFold P97443
Predicted Effect probably benign
Transcript: ENSMUST00000074301
AA Change: T13I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073911
Gene: ENSMUSG00000055027
AA Change: T13I

DomainStartEndE-ValueType
SET 7 259 2.79e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114186
AA Change: T13I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109824
Gene: ENSMUSG00000055027
AA Change: T13I

DomainStartEndE-ValueType
SET 7 246 2.45e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114188
SMART Domains Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027

DomainStartEndE-ValueType
Pfam:zf-MYND 18 56 5.4e-11 PFAM
SET 76 225 1.53e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129630
AA Change: T13I

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133300
Gene: ENSMUSG00000055027
AA Change: T13I

DomainStartEndE-ValueType
PDB:3N71|A 1 45 7e-25 PDB
Blast:SET 7 56 2e-20 BLAST
Meta Mutation Damage Score 0.1509 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 97% (92/95)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at E10.5. Mutant embryos exhibit an enlarged heart and developmental abnormalities of the right ventricle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T G 6: 52,156,131 (GRCm39) probably benign Het
Abtb3 C A 10: 85,481,442 (GRCm39) T948K probably damaging Het
Adamts12 T A 15: 11,286,890 (GRCm39) W832R probably damaging Het
Alb A G 5: 90,612,061 (GRCm39) probably benign Het
Arnt A G 3: 95,377,710 (GRCm39) probably benign Het
Asap2 A C 12: 21,289,586 (GRCm39) N501H probably damaging Het
Asap2 A G 12: 21,289,590 (GRCm39) E499G probably damaging Het
Atp5f1b C T 10: 127,919,167 (GRCm39) probably benign Het
Atrnl1 G A 19: 57,924,137 (GRCm39) probably null Het
AW554918 T G 18: 25,472,756 (GRCm39) probably null Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Bltp3a A G 17: 28,113,551 (GRCm39) K1241R probably benign Het
Bod1l G A 5: 41,976,814 (GRCm39) T1500I probably damaging Het
Cd101 A T 3: 100,926,091 (GRCm39) Y209* probably null Het
Cdk12 T A 11: 98,132,611 (GRCm39) S1013R unknown Het
Cntd1 T A 11: 101,176,566 (GRCm39) L221Q possibly damaging Het
Cntn4 G A 6: 106,321,831 (GRCm39) probably null Het
Col17a1 T A 19: 47,659,944 (GRCm39) D336V probably damaging Het
Creb3l4 A G 3: 90,146,045 (GRCm39) I193T possibly damaging Het
Cyp2d10 A T 15: 82,290,106 (GRCm39) probably null Het
Dcun1d3 A G 7: 119,457,158 (GRCm39) F185L probably damaging Het
Dnah17 T A 11: 117,964,849 (GRCm39) N2365Y probably damaging Het
Dnah7a T A 1: 53,686,395 (GRCm39) probably benign Het
Dnajc16 G T 4: 141,495,052 (GRCm39) S520* probably null Het
Dsg1b G T 18: 20,530,487 (GRCm39) E381* probably null Het
Dusp1 A G 17: 26,727,293 (GRCm39) V2A probably benign Het
Elf1 T C 14: 79,798,215 (GRCm39) V34A probably damaging Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Epn2 A G 11: 61,413,912 (GRCm39) S419P probably benign Het
Fat4 T C 3: 38,944,962 (GRCm39) I1285T probably damaging Het
Fcgr2b T C 1: 170,788,650 (GRCm39) Y319C probably damaging Het
Fhip2a G A 19: 57,359,594 (GRCm39) A45T possibly damaging Het
Gfra1 A C 19: 58,226,849 (GRCm39) S461A possibly damaging Het
Gli2 T G 1: 118,769,666 (GRCm39) I629L probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gnas C T 2: 174,187,007 (GRCm39) probably benign Het
Gpx3 G A 11: 54,800,422 (GRCm39) V207I probably damaging Het
Hormad2 A G 11: 4,359,005 (GRCm39) probably null Het
Hsd17b4 G T 18: 50,263,254 (GRCm39) probably benign Het
Kmt2b A G 7: 30,276,385 (GRCm39) probably benign Het
Lrch1 T C 14: 75,041,709 (GRCm39) probably benign Het
Mark3 T C 12: 111,594,271 (GRCm39) I307T possibly damaging Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mtch2 A T 2: 90,683,359 (GRCm39) probably benign Het
Mtif2 G A 11: 29,495,002 (GRCm39) V701I probably benign Het
Mug1 C T 6: 121,815,635 (GRCm39) S13L probably benign Het
Naa25 T G 5: 121,561,797 (GRCm39) L450R probably damaging Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nrp2 C T 1: 62,822,491 (GRCm39) R695* probably null Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or10s1 T A 9: 39,985,768 (GRCm39) L59H probably damaging Het
Or2z9 T C 8: 72,854,231 (GRCm39) L209P probably damaging Het
Otog G T 7: 45,924,039 (GRCm39) A1133S probably damaging Het
Pclo A T 5: 14,728,144 (GRCm39) probably benign Het
Pdcd11 A G 19: 47,118,516 (GRCm39) D1794G probably damaging Het
Pde4d C A 13: 110,086,921 (GRCm39) S609* probably null Het
Pkn3 T A 2: 29,973,059 (GRCm39) V323E probably damaging Het
Plekhd1 A G 12: 80,739,659 (GRCm39) T3A probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plppr2 C T 9: 21,859,085 (GRCm39) P401S possibly damaging Het
Poln A G 5: 34,236,319 (GRCm39) V604A probably benign Het
Pramel21 T A 4: 143,342,604 (GRCm39) I237K probably benign Het
Prkd2 A G 7: 16,603,470 (GRCm39) D800G probably benign Het
Ptprb A G 10: 116,155,375 (GRCm39) T710A probably benign Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Ralbp1 A T 17: 66,166,143 (GRCm39) probably benign Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Sec24b T C 3: 129,801,072 (GRCm39) N408S probably damaging Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Smcr8 T C 11: 60,668,858 (GRCm39) I2T probably damaging Het
Smtnl2 T C 11: 72,292,247 (GRCm39) T301A probably damaging Het
Sp110 G A 1: 85,522,106 (GRCm39) H66Y probably benign Het
Szt2 A T 4: 118,244,976 (GRCm39) S1187T probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,680 (GRCm39) M405L possibly damaging Het
Thap12 A G 7: 98,366,037 (GRCm39) D735G probably damaging Het
Tmem132b C A 5: 125,715,313 (GRCm39) Q341K probably benign Het
Tnip3 T C 6: 65,574,413 (GRCm39) V88A probably benign Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ttn A G 2: 76,565,755 (GRCm39) V28199A possibly damaging Het
Ube3b T C 5: 114,556,636 (GRCm39) F989S probably damaging Het
Ubox5 A G 2: 130,442,210 (GRCm39) L159P probably damaging Het
Uevld A T 7: 46,587,758 (GRCm39) V314E possibly damaging Het
Urb1 T C 16: 90,566,354 (GRCm39) M1478V probably damaging Het
Utrn C T 10: 12,589,094 (GRCm39) V871I probably benign Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Vmn1r205 T C 13: 22,777,049 (GRCm39) K18E probably benign Het
Zfp518a T A 19: 40,902,803 (GRCm39) Y911N probably damaging Het
Zfyve28 A G 5: 34,374,590 (GRCm39) C475R probably damaging Het
Other mutations in Smyd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Smyd1 APN 6 71,198,007 (GRCm39) unclassified probably benign
IGL02901:Smyd1 APN 6 71,215,614 (GRCm39) missense probably benign 0.00
PIT4498001:Smyd1 UTSW 6 71,196,272 (GRCm39) missense probably benign 0.00
R0134:Smyd1 UTSW 6 71,193,749 (GRCm39) missense probably damaging 1.00
R1344:Smyd1 UTSW 6 71,239,151 (GRCm39) missense probably benign 0.36
R1737:Smyd1 UTSW 6 71,193,875 (GRCm39) missense probably damaging 1.00
R1909:Smyd1 UTSW 6 71,216,563 (GRCm39) missense probably benign 0.34
R1978:Smyd1 UTSW 6 71,289,703 (GRCm39) splice site probably null
R2281:Smyd1 UTSW 6 71,215,660 (GRCm39) missense probably damaging 0.99
R2418:Smyd1 UTSW 6 71,216,537 (GRCm39) missense probably damaging 1.00
R4914:Smyd1 UTSW 6 71,196,321 (GRCm39) missense probably benign 0.00
R5395:Smyd1 UTSW 6 71,196,374 (GRCm39) missense possibly damaging 0.95
R5589:Smyd1 UTSW 6 71,239,164 (GRCm39) missense probably damaging 1.00
R5663:Smyd1 UTSW 6 71,216,705 (GRCm39) missense probably benign
R6572:Smyd1 UTSW 6 71,202,396 (GRCm39) missense probably damaging 1.00
R7014:Smyd1 UTSW 6 71,215,611 (GRCm39) missense probably damaging 1.00
R7074:Smyd1 UTSW 6 71,214,359 (GRCm39) missense probably damaging 0.99
R8478:Smyd1 UTSW 6 71,193,811 (GRCm39) missense probably damaging 1.00
R8724:Smyd1 UTSW 6 71,193,767 (GRCm39) missense probably damaging 0.98
R8816:Smyd1 UTSW 6 71,192,868 (GRCm39) missense probably damaging 0.98
R9484:Smyd1 UTSW 6 71,202,450 (GRCm39) missense probably damaging 1.00
R9623:Smyd1 UTSW 6 71,192,808 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTTTTGCACACACGCACGCAC -3'
(R):5'- TTTTCCCTCCTGACACAGTGGTGG -3'

Sequencing Primer
(F):5'- cacgcacgcacatacac -3'
(R):5'- ACACAGTGGTGGAGGGG -3'
Posted On 2014-03-14