Incidental Mutation 'R0511:Nsd3'
ID 46916
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission 038705-MU
Accession Numbers

Genbank: NM_001081269, NM_001001735.1; MGI: 2142581; Ensemb: ENSMUST00000155861, ENSMUST00000146919, ENSMUST00000142395, ENSMUST00000139966, ENSMUST00000153597, ENSMUST00000084026, ENSMUST0000017135

Essential gene? Possibly non essential (E-score: 0.390) question?
Stock # R0511 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 25601601-25719667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25678716 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 629 (G629D)
Ref Sequence ENSEMBL: ENSMUSP00000117778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000136107] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000146919] [ENSMUST00000155861]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000084026
AA Change: G629D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: G629D

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
PWWP 278 341 1.6e-12 SMART
low complexity region 680 701 N/A INTRINSIC
PHD 713 756 4.49e-7 SMART
PHD 761 808 5.82e-1 SMART
PHD 809 861 3.06e0 SMART
PHD 874 963 1e-4 SMART
PWWP 968 1030 8.62e-18 SMART
AWS 1103 1154 2.61e-17 SMART
SET 1155 1278 2.17e-41 SMART
PostSET 1279 1295 2.63e-3 SMART
low complexity region 1309 1326 N/A INTRINSIC
PHD 1332 1375 4.32e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136107
Predicted Effect possibly damaging
Transcript: ENSMUST00000139966
AA Change: G629D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: G629D

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
PWWP 278 341 1.6e-12 SMART
low complexity region 680 701 N/A INTRINSIC
PHD 713 756 4.49e-7 SMART
PHD 761 808 5.82e-1 SMART
PHD 809 861 3.06e0 SMART
PHD 874 914 5.24e-8 SMART
PWWP 919 981 8.62e-18 SMART
AWS 1054 1105 2.61e-17 SMART
SET 1106 1229 2.17e-41 SMART
PostSET 1230 1246 2.63e-3 SMART
low complexity region 1260 1277 N/A INTRINSIC
PHD 1283 1326 4.32e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141781
Predicted Effect possibly damaging
Transcript: ENSMUST00000142395
AA Change: G629D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: G629D

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
PWWP 278 341 1.6e-12 SMART
low complexity region 680 701 N/A INTRINSIC
PHD 713 756 4.49e-7 SMART
PHD 761 808 5.82e-1 SMART
PHD 809 861 3.06e0 SMART
PHD 874 963 1e-4 SMART
PWWP 968 1030 8.62e-18 SMART
AWS 1103 1154 2.61e-17 SMART
SET 1155 1278 2.17e-41 SMART
PostSET 1279 1295 2.63e-3 SMART
low complexity region 1309 1326 N/A INTRINSIC
PHD 1332 1375 4.32e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146919
SMART Domains Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
Pfam:PWWP 278 388 1.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155861
SMART Domains Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
Pfam:PWWP 278 388 1.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157551
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
MGI Phenotype FUNCTION: This gene encodes a member of the SET domain family of histone lysine N-methyltransferase proteins. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. It acts in opposition to the histone demethylase Jmjd1c. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T C 18: 38,254,071 (GRCm38) probably null Het
A630095E13Rik A T 9: 36,638,577 (GRCm38) probably null Het
Abca13 G T 11: 9,294,559 (GRCm38) V2141L probably benign Het
Adam17 T C 12: 21,340,458 (GRCm38) probably benign Het
Adam3 A T 8: 24,695,315 (GRCm38) C456S probably damaging Het
AI464131 A G 4: 41,498,538 (GRCm38) F364S probably damaging Het
Aldh4a1 G T 4: 139,642,571 (GRCm38) probably benign Het
Anapc4 A G 5: 52,842,017 (GRCm38) probably benign Het
Ank3 A T 10: 69,882,368 (GRCm38) Q483L probably damaging Het
Ankle2 A G 5: 110,242,059 (GRCm38) probably benign Het
Ankrd13b T A 11: 77,473,288 (GRCm38) T150S possibly damaging Het
Apeh A G 9: 108,087,055 (GRCm38) M524T probably benign Het
Arl14epl T A 18: 46,926,417 (GRCm38) probably null Het
Atg2a T C 19: 6,252,539 (GRCm38) F964S possibly damaging Het
Atg2b C T 12: 105,617,153 (GRCm38) V2050M probably damaging Het
Atp2b4 A T 1: 133,732,218 (GRCm38) probably benign Het
Bbof1 T A 12: 84,430,271 (GRCm38) S512T probably benign Het
BC055324 T C 1: 163,971,843 (GRCm38) probably null Het
C130079G13Rik A G 3: 59,936,350 (GRCm38) H155R possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Car10 T C 11: 93,490,582 (GRCm38) Y100H probably damaging Het
Ccdc81 T A 7: 89,893,296 (GRCm38) E124V probably damaging Het
Cd84 A G 1: 171,872,927 (GRCm38) T204A probably benign Het
Celf2 A G 2: 6,604,176 (GRCm38) S178P probably damaging Het
Chat G A 14: 32,409,019 (GRCm38) T555M probably damaging Het
Chd6 A G 2: 160,992,191 (GRCm38) F917S probably damaging Het
Chrna2 C A 14: 66,149,104 (GRCm38) T233N probably damaging Het
Cnpy2 T C 10: 128,326,185 (GRCm38) V109A probably benign Het
Col4a1 T C 8: 11,208,333 (GRCm38) probably null Het
Csmd1 C T 8: 15,932,529 (GRCm38) V2713M possibly damaging Het
Cuedc1 G A 11: 88,183,405 (GRCm38) R255Q probably damaging Het
Cxcl15 A T 5: 90,798,038 (GRCm38) probably benign Het
Dach1 A T 14: 97,901,329 (GRCm38) H559Q possibly damaging Het
Dennd4c C T 4: 86,826,022 (GRCm38) T1367M probably damaging Het
Depdc5 T A 5: 32,945,028 (GRCm38) Y365* probably null Het
Dicer1 T C 12: 104,702,841 (GRCm38) Y1194C possibly damaging Het
Dmxl1 C G 18: 49,891,467 (GRCm38) S1736* probably null Het
Dnah7a C T 1: 53,497,126 (GRCm38) R2586K probably benign Het
Dnajb8 T C 6: 88,222,485 (GRCm38) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm38) P2088L probably benign Het
Eftud2 T G 11: 102,844,222 (GRCm38) H617P probably damaging Het
Ephb1 A G 9: 101,995,980 (GRCm38) probably benign Het
Fam184a G T 10: 53,698,879 (GRCm38) H155Q probably benign Het
Ganc G T 2: 120,448,401 (GRCm38) E700* probably null Het
Gm10912 A G 2: 104,066,945 (GRCm38) probably benign Het
Gm9047 G T 6: 29,478,170 (GRCm38) probably benign Het
Haus5 A T 7: 30,659,067 (GRCm38) I294N probably damaging Het
Hmgcr G T 13: 96,660,143 (GRCm38) probably null Het
Hr T A 14: 70,561,912 (GRCm38) C641* probably null Het
Itga10 A G 3: 96,658,174 (GRCm38) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,271,435 (GRCm38) Y172S probably damaging Het
Kprp T C 3: 92,824,723 (GRCm38) N340S probably damaging Het
Kremen1 A G 11: 5,215,447 (GRCm38) I41T probably damaging Het
Krt6b A G 15: 101,677,607 (GRCm38) probably benign Het
Krt81 C A 15: 101,463,627 (GRCm38) R24L possibly damaging Het
Ldhd A G 8: 111,629,677 (GRCm38) Y86H probably benign Het
Lilra6 A T 7: 3,912,785 (GRCm38) I76N possibly damaging Het
Mak T C 13: 41,046,267 (GRCm38) T299A probably benign Het
Med25 A G 7: 44,885,078 (GRCm38) probably null Het
Mpg A T 11: 32,230,039 (GRCm38) N189I probably damaging Het
Mroh8 A G 2: 157,229,918 (GRCm38) Y556H probably damaging Het
Myh8 T A 11: 67,284,507 (GRCm38) S294T probably benign Het
Myom1 T A 17: 71,084,317 (GRCm38) D842E probably benign Het
Nat2 C T 8: 67,501,330 (GRCm38) Q31* probably null Het
Nf1 T A 11: 79,438,769 (GRCm38) M653K probably benign Het
Nhs C A X: 161,837,359 (GRCm38) R1467I probably damaging Het
Npr2 A G 4: 43,632,801 (GRCm38) E206G probably benign Het
Nwd1 G A 8: 72,682,005 (GRCm38) C831Y probably damaging Het
Olfr1094 A G 2: 86,829,606 (GRCm38) I285V probably benign Het
Olfr584 T C 7: 103,085,851 (GRCm38) I111T probably damaging Het
P2ry14 A G 3: 59,116,028 (GRCm38) S4P possibly damaging Het
Parp4 A G 14: 56,635,715 (GRCm38) probably benign Het
Pclo A G 5: 14,678,285 (GRCm38) probably benign Het
Pclo T C 5: 14,679,398 (GRCm38) probably benign Het
Pcnt A T 10: 76,404,595 (GRCm38) S1202T possibly damaging Het
Pfkfb4 A G 9: 109,027,757 (GRCm38) Y412C probably damaging Het
Pgm1 T A 5: 64,110,555 (GRCm38) V449D probably damaging Het
Poldip3 T A 15: 83,138,235 (GRCm38) D116V probably damaging Het
Pom121 G T 5: 135,381,832 (GRCm38) Q824K unknown Het
Prkdc G T 16: 15,831,282 (GRCm38) G3707* probably null Het
Prr14l T C 5: 32,844,216 (GRCm38) probably benign Het
Ptbp2 T G 3: 119,720,964 (GRCm38) I405L probably benign Het
Rad21l A T 2: 151,649,069 (GRCm38) probably benign Het
Rbm6 G A 9: 107,847,289 (GRCm38) Q488* probably null Het
Rdh1 T A 10: 127,764,783 (GRCm38) M225K probably benign Het
Recql5 T C 11: 115,928,383 (GRCm38) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Robo1 T C 16: 73,013,125 (GRCm38) probably null Het
Samd12 G A 15: 53,860,171 (GRCm38) T42I probably benign Het
Scn10a A T 9: 119,613,700 (GRCm38) M1494K probably damaging Het
Sec31a G A 5: 100,375,240 (GRCm38) P864L probably benign Het
Senp2 T C 16: 22,036,570 (GRCm38) V344A probably benign Het
Serpina5 G A 12: 104,103,362 (GRCm38) D278N probably benign Het
Sh3tc1 A T 5: 35,703,462 (GRCm38) V1017D probably damaging Het
Sin3a T A 9: 57,096,895 (GRCm38) Y310* probably null Het
Slc25a32 T C 15: 39,097,545 (GRCm38) T248A probably benign Het
Slc35e1 T C 8: 72,492,571 (GRCm38) probably benign Het
Slc4a10 G A 2: 62,286,862 (GRCm38) V722M probably damaging Het
Slco1a4 A G 6: 141,830,860 (GRCm38) probably benign Het
Smg6 T A 11: 74,929,058 (GRCm38) Y52N probably damaging Het
Sncb T G 13: 54,765,587 (GRCm38) T33P probably damaging Het
Spef2 A G 15: 9,583,984 (GRCm38) probably null Het
Sugp1 A G 8: 70,059,363 (GRCm38) E203G probably damaging Het
Suv39h2 A T 2: 3,472,579 (GRCm38) C105S probably damaging Het
Tlr1 A T 5: 64,926,620 (GRCm38) F205I probably damaging Het
Tnip1 A T 11: 54,917,873 (GRCm38) M496K probably damaging Het
Tnxb G A 17: 34,718,245 (GRCm38) E2889K probably damaging Het
Trim30b T A 7: 104,365,803 (GRCm38) H126L possibly damaging Het
Trpm7 A T 2: 126,826,718 (GRCm38) Y759* probably null Het
Ttc17 A G 2: 94,323,120 (GRCm38) I1000T possibly damaging Het
Ttc27 A T 17: 74,718,715 (GRCm38) N61I probably benign Het
Uba6 T C 5: 86,112,750 (GRCm38) Y990C probably damaging Het
Vav3 A G 3: 109,664,440 (GRCm38) probably benign Het
Vmn2r55 C T 7: 12,671,018 (GRCm38) A153T possibly damaging Het
Wars2 A G 3: 99,216,549 (GRCm38) D242G probably damaging Het
Xylt2 G A 11: 94,669,936 (GRCm38) Q259* probably null Het
Zfp27 G A 7: 29,894,522 (GRCm38) P673S probably damaging Het
Zgrf1 T C 3: 127,584,660 (GRCm38) I1023T possibly damaging Het
Other mutations in Nsd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Nsd3 APN 8 25,676,712 (GRCm38) missense probably benign 0.40
IGL00718:Nsd3 APN 8 25,706,534 (GRCm38) missense probably damaging 0.97
IGL00727:Nsd3 APN 8 25,641,158 (GRCm38) missense probably damaging 1.00
IGL01324:Nsd3 APN 8 25,662,820 (GRCm38) missense probably damaging 1.00
IGL01614:Nsd3 APN 8 25,666,079 (GRCm38) missense possibly damaging 0.65
IGL01834:Nsd3 APN 8 25,640,652 (GRCm38) missense probably damaging 1.00
IGL02066:Nsd3 APN 8 25,713,488 (GRCm38) missense probably damaging 1.00
IGL02229:Nsd3 APN 8 25,710,748 (GRCm38) missense probably damaging 0.98
IGL02481:Nsd3 APN 8 25,691,116 (GRCm38) missense probably damaging 1.00
IGL02686:Nsd3 APN 8 25,666,070 (GRCm38) missense probably damaging 0.96
IGL03394:Nsd3 APN 8 25,675,749 (GRCm38) splice site probably benign
Pine UTSW 8 25,679,936 (GRCm38) missense possibly damaging 0.87
D3080:Nsd3 UTSW 8 25,713,545 (GRCm38) missense possibly damaging 0.77
IGL02802:Nsd3 UTSW 8 25,640,906 (GRCm38) missense probably damaging 1.00
R0136:Nsd3 UTSW 8 25,659,854 (GRCm38) nonsense probably null
R0195:Nsd3 UTSW 8 25,680,693 (GRCm38) missense probably damaging 1.00
R0207:Nsd3 UTSW 8 25,683,257 (GRCm38) missense probably benign 0.02
R0471:Nsd3 UTSW 8 25,648,434 (GRCm38) splice site probably benign
R0524:Nsd3 UTSW 8 25,700,577 (GRCm38) missense possibly damaging 0.90
R0581:Nsd3 UTSW 8 25,710,691 (GRCm38) missense probably damaging 1.00
R0589:Nsd3 UTSW 8 25,641,287 (GRCm38) missense probably damaging 1.00
R0645:Nsd3 UTSW 8 25,709,069 (GRCm38) missense probably benign 0.08
R0664:Nsd3 UTSW 8 25,714,240 (GRCm38) missense probably damaging 0.97
R0738:Nsd3 UTSW 8 25,678,709 (GRCm38) splice site probably null
R1148:Nsd3 UTSW 8 25,713,380 (GRCm38) missense probably benign 0.09
R1148:Nsd3 UTSW 8 25,713,380 (GRCm38) missense probably benign 0.09
R1265:Nsd3 UTSW 8 25,682,562 (GRCm38) missense probably benign
R1298:Nsd3 UTSW 8 25,679,936 (GRCm38) missense possibly damaging 0.87
R1424:Nsd3 UTSW 8 25,700,566 (GRCm38) missense probably damaging 1.00
R1493:Nsd3 UTSW 8 25,713,380 (GRCm38) missense probably benign 0.09
R1528:Nsd3 UTSW 8 25,698,767 (GRCm38) missense probably damaging 1.00
R2051:Nsd3 UTSW 8 25,691,089 (GRCm38) missense probably damaging 0.99
R2199:Nsd3 UTSW 8 25,666,057 (GRCm38) missense probably damaging 0.99
R3414:Nsd3 UTSW 8 25,700,019 (GRCm38) missense probably damaging 1.00
R3522:Nsd3 UTSW 8 25,706,614 (GRCm38) missense probably benign
R3623:Nsd3 UTSW 8 25,662,819 (GRCm38) missense probably damaging 0.98
R3624:Nsd3 UTSW 8 25,662,819 (GRCm38) missense probably damaging 0.98
R3798:Nsd3 UTSW 8 25,698,845 (GRCm38) missense probably damaging 1.00
R4345:Nsd3 UTSW 8 25,641,317 (GRCm38) missense probably benign 0.04
R4370:Nsd3 UTSW 8 25,648,508 (GRCm38) missense probably benign 0.13
R4421:Nsd3 UTSW 8 25,641,272 (GRCm38) missense probably damaging 0.99
R4583:Nsd3 UTSW 8 25,710,676 (GRCm38) missense probably benign 0.20
R4664:Nsd3 UTSW 8 25,698,866 (GRCm38) missense probably damaging 1.00
R4741:Nsd3 UTSW 8 25,673,366 (GRCm38) missense probably damaging 1.00
R4876:Nsd3 UTSW 8 25,691,134 (GRCm38) missense possibly damaging 0.94
R4888:Nsd3 UTSW 8 25,698,911 (GRCm38) missense probably damaging 1.00
R5000:Nsd3 UTSW 8 25,682,577 (GRCm38) missense probably damaging 1.00
R5132:Nsd3 UTSW 8 25,678,839 (GRCm38) missense possibly damaging 0.73
R5632:Nsd3 UTSW 8 25,679,969 (GRCm38) missense probably benign 0.00
R5760:Nsd3 UTSW 8 25,659,756 (GRCm38) missense probably damaging 1.00
R5778:Nsd3 UTSW 8 25,659,818 (GRCm38) missense probably damaging 1.00
R5779:Nsd3 UTSW 8 25,682,669 (GRCm38) nonsense probably null
R5860:Nsd3 UTSW 8 25,666,091 (GRCm38) missense probably damaging 0.98
R5911:Nsd3 UTSW 8 25,666,076 (GRCm38) missense probably damaging 1.00
R6168:Nsd3 UTSW 8 25,691,161 (GRCm38) missense probably null 1.00
R6467:Nsd3 UTSW 8 25,640,630 (GRCm38) missense probably damaging 1.00
R6490:Nsd3 UTSW 8 25,714,185 (GRCm38) missense probably damaging 1.00
R6519:Nsd3 UTSW 8 25,662,939 (GRCm38) missense probably damaging 1.00
R6554:Nsd3 UTSW 8 25,662,875 (GRCm38) missense probably damaging 0.99
R7038:Nsd3 UTSW 8 25,641,263 (GRCm38) missense probably damaging 1.00
R7088:Nsd3 UTSW 8 25,666,034 (GRCm38) missense probably benign 0.40
R7244:Nsd3 UTSW 8 25,666,039 (GRCm38) missense probably damaging 0.96
R7308:Nsd3 UTSW 8 25,640,724 (GRCm38) missense probably damaging 1.00
R7678:Nsd3 UTSW 8 25,659,817 (GRCm38) missense possibly damaging 0.82
R7717:Nsd3 UTSW 8 25,682,562 (GRCm38) missense probably benign
R8064:Nsd3 UTSW 8 25,700,670 (GRCm38) nonsense probably null
R8242:Nsd3 UTSW 8 25,706,539 (GRCm38) nonsense probably null
R8312:Nsd3 UTSW 8 25,663,252 (GRCm38) missense probably damaging 1.00
R8547:Nsd3 UTSW 8 25,694,784 (GRCm38) missense probably damaging 1.00
R8954:Nsd3 UTSW 8 25,673,378 (GRCm38) missense probably damaging 1.00
R8995:Nsd3 UTSW 8 25,641,153 (GRCm38) missense probably damaging 1.00
R9026:Nsd3 UTSW 8 25,682,560 (GRCm38) missense probably benign 0.10
R9281:Nsd3 UTSW 8 25,662,945 (GRCm38) missense probably benign 0.00
R9320:Nsd3 UTSW 8 25,709,061 (GRCm38) critical splice acceptor site probably null
R9563:Nsd3 UTSW 8 25,714,203 (GRCm38) missense
R9703:Nsd3 UTSW 8 25,641,212 (GRCm38) missense probably benign 0.00
X0026:Nsd3 UTSW 8 25,700,593 (GRCm38) missense probably damaging 1.00
Z1088:Nsd3 UTSW 8 25,641,002 (GRCm38) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GTTGAAACGGCACTATCCGAGTAGG -3'
(R):5'- GCTAACTGTGGCTGGCAAACAAG -3'

Sequencing Primer
(F):5'- TGGGATCACTTAATACCGGAAGTC -3'
(R):5'- CTGGCAAACAAGTCGTCTG -3'
Posted On 2013-06-11