Incidental Mutation 'R1424:Nsd3'
ID 247308
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission 039480-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R1424 (G1)
Quality Score 47
Status Validated
Chromosome 8
Chromosomal Location 26091617-26209694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26190594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 175 (N175S)
Ref Sequence ENSEMBL: ENSMUSP00000123028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000153597]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084026
AA Change: N1126S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: N1126S

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 noncoding transcript
Transcript: ENSMUST00000129959
Predicted Effect probably damaging
Transcript: ENSMUST00000139966
AA Change: N1077S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: N1077S

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 probably damaging
Transcript: ENSMUST00000142395
AA Change: N1126S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: N1126S

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 noncoding transcript
Transcript: ENSMUST00000147935
Predicted Effect probably damaging
Transcript: ENSMUST00000153597
AA Change: N175S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
AA Change: N175S

DomainStartEndE-ValueType
PWWP 17 79 8.62e-18 SMART
AWS 152 203 2.61e-17 SMART
SET 204 327 2.17e-41 SMART
PostSET 328 344 2.63e-3 SMART
low complexity region 358 375 N/A INTRINSIC
PHD 381 424 4.32e-9 SMART
Meta Mutation Damage Score 0.4862 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency 97% (57/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C A 12: 72,939,669 (GRCm39) E415* probably null Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acad12 C T 5: 121,742,385 (GRCm39) A408T probably benign Het
Acox2 T A 14: 8,230,247 (GRCm38) H632L probably benign Het
Anxa5 A T 3: 36,506,441 (GRCm39) probably null Het
Ap1m2 A T 9: 21,209,500 (GRCm39) I392N possibly damaging Het
Casp2 T C 6: 42,253,725 (GRCm39) probably benign Het
Cel C T 2: 28,449,636 (GRCm39) A243T probably damaging Het
Depp1 A G 6: 116,628,966 (GRCm39) N103S possibly damaging Het
Dgka A T 10: 128,569,202 (GRCm39) S177T possibly damaging Het
Dnajc6 A G 4: 101,496,544 (GRCm39) T836A possibly damaging Het
Dock3 T C 9: 106,790,392 (GRCm39) S1444G probably damaging Het
Dtl T C 1: 191,293,649 (GRCm39) D176G probably benign Het
Eif4g1 T C 16: 20,497,692 (GRCm39) I230T probably benign Het
Fam227a T A 15: 79,518,309 (GRCm39) I328F probably benign Het
Fam98a A G 17: 75,847,173 (GRCm39) L179S probably damaging Het
Fgb A T 3: 82,954,070 (GRCm39) I56N probably damaging Het
Fmo1 C T 1: 162,657,635 (GRCm39) R502Q probably damaging Het
Fndc3a C T 14: 72,811,811 (GRCm39) A340T probably damaging Het
Gli3 C A 13: 15,900,899 (GRCm39) Q1429K probably benign Het
Gm3443 A T 19: 21,534,959 (GRCm39) I75F possibly damaging Het
Gtpbp6 C T 5: 110,252,155 (GRCm39) probably null Het
Gtsf1 A T 15: 103,318,070 (GRCm39) Y156* probably null Het
Hmcn1 T C 1: 150,522,545 (GRCm39) T3452A probably benign Het
Kcnj10 T A 1: 172,196,822 (GRCm39) V112E probably damaging Het
Lama3 C A 18: 12,653,048 (GRCm39) T256K probably benign Het
Lrrc8d G A 5: 105,974,782 (GRCm39) V63M unknown Het
Matn3 G T 12: 9,011,132 (GRCm39) A348S possibly damaging Het
Mmp16 A G 4: 18,112,121 (GRCm39) probably null Het
Or11h4 A T 14: 50,974,521 (GRCm39) F33I probably benign Het
Or1d2 C A 11: 74,255,780 (GRCm39) P95Q probably benign Het
Or4c35 C T 2: 89,808,415 (GRCm39) Q98* probably null Het
Or4k5 C A 14: 50,385,922 (GRCm39) M136I possibly damaging Het
Pcdhb12 T A 18: 37,571,132 (GRCm39) N759K probably benign Het
Pcsk2 T C 2: 143,415,348 (GRCm39) probably benign Het
Polq G A 16: 36,906,890 (GRCm39) D2284N probably damaging Het
Prdm12 C T 2: 31,533,823 (GRCm39) R147C probably damaging Het
Ptprz1 A G 6: 23,000,382 (GRCm39) D824G probably benign Het
Rere C T 4: 150,701,495 (GRCm39) R1292C probably damaging Het
Rptor T A 11: 119,671,419 (GRCm39) L294* probably null Het
Sbf2 A T 7: 109,914,233 (GRCm39) C1650S probably damaging Het
Sdk1 C T 5: 142,147,621 (GRCm39) T1751I probably damaging Het
Sh3bp1 T C 15: 78,787,899 (GRCm39) probably null Het
Shank2 T A 7: 143,606,109 (GRCm39) D97E probably damaging Het
Tab2 A C 10: 7,795,812 (GRCm39) S149R possibly damaging Het
Taok1 G T 11: 77,440,190 (GRCm39) R606S probably benign Het
Tas2r121 A G 6: 132,677,645 (GRCm39) L109P probably damaging Het
Tmem117 A G 15: 94,829,689 (GRCm39) M175V probably benign Het
Tmprss11b T C 5: 86,812,832 (GRCm39) K155E probably benign Het
Tmtc2 G T 10: 105,249,229 (GRCm39) T168N probably benign Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tsga10ip C T 19: 5,440,942 (GRCm39) probably null Het
Tuba8 A G 6: 121,197,470 (GRCm39) N44S probably benign Het
Ube2o A G 11: 116,434,558 (GRCm39) V590A probably benign Het
Ush2a T G 1: 188,275,075 (GRCm39) probably null Het
Vmn2r23 T A 6: 123,690,229 (GRCm39) Y368* probably null Het
Other mutations in Nsd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Nsd3 APN 8 26,166,728 (GRCm39) missense probably benign 0.40
IGL00718:Nsd3 APN 8 26,196,562 (GRCm39) missense probably damaging 0.97
IGL00727:Nsd3 APN 8 26,131,174 (GRCm39) missense probably damaging 1.00
IGL01324:Nsd3 APN 8 26,152,836 (GRCm39) missense probably damaging 1.00
IGL01614:Nsd3 APN 8 26,156,095 (GRCm39) missense possibly damaging 0.65
IGL01834:Nsd3 APN 8 26,130,668 (GRCm39) missense probably damaging 1.00
IGL02066:Nsd3 APN 8 26,203,515 (GRCm39) missense probably damaging 1.00
IGL02229:Nsd3 APN 8 26,200,775 (GRCm39) missense probably damaging 0.98
IGL02481:Nsd3 APN 8 26,181,143 (GRCm39) missense probably damaging 1.00
IGL02686:Nsd3 APN 8 26,156,086 (GRCm39) missense probably damaging 0.96
IGL03394:Nsd3 APN 8 26,165,765 (GRCm39) splice site probably benign
Pine UTSW 8 26,169,952 (GRCm39) missense possibly damaging 0.87
D3080:Nsd3 UTSW 8 26,203,572 (GRCm39) missense possibly damaging 0.77
IGL02802:Nsd3 UTSW 8 26,130,922 (GRCm39) missense probably damaging 1.00
R0136:Nsd3 UTSW 8 26,149,870 (GRCm39) nonsense probably null
R0195:Nsd3 UTSW 8 26,170,709 (GRCm39) missense probably damaging 1.00
R0207:Nsd3 UTSW 8 26,173,273 (GRCm39) missense probably benign 0.02
R0471:Nsd3 UTSW 8 26,138,450 (GRCm39) splice site probably benign
R0511:Nsd3 UTSW 8 26,168,732 (GRCm39) missense possibly damaging 0.81
R0524:Nsd3 UTSW 8 26,190,605 (GRCm39) missense possibly damaging 0.90
R0581:Nsd3 UTSW 8 26,200,718 (GRCm39) missense probably damaging 1.00
R0589:Nsd3 UTSW 8 26,131,303 (GRCm39) missense probably damaging 1.00
R0645:Nsd3 UTSW 8 26,199,096 (GRCm39) missense probably benign 0.08
R0664:Nsd3 UTSW 8 26,204,267 (GRCm39) missense probably damaging 0.97
R0738:Nsd3 UTSW 8 26,168,725 (GRCm39) splice site probably null
R1148:Nsd3 UTSW 8 26,203,407 (GRCm39) missense probably benign 0.09
R1148:Nsd3 UTSW 8 26,203,407 (GRCm39) missense probably benign 0.09
R1265:Nsd3 UTSW 8 26,172,578 (GRCm39) missense probably benign
R1298:Nsd3 UTSW 8 26,169,952 (GRCm39) missense possibly damaging 0.87
R1493:Nsd3 UTSW 8 26,203,407 (GRCm39) missense probably benign 0.09
R1528:Nsd3 UTSW 8 26,188,795 (GRCm39) missense probably damaging 1.00
R2051:Nsd3 UTSW 8 26,181,116 (GRCm39) missense probably damaging 0.99
R2199:Nsd3 UTSW 8 26,156,073 (GRCm39) missense probably damaging 0.99
R3414:Nsd3 UTSW 8 26,190,047 (GRCm39) missense probably damaging 1.00
R3522:Nsd3 UTSW 8 26,196,642 (GRCm39) missense probably benign
R3623:Nsd3 UTSW 8 26,152,835 (GRCm39) missense probably damaging 0.98
R3624:Nsd3 UTSW 8 26,152,835 (GRCm39) missense probably damaging 0.98
R3798:Nsd3 UTSW 8 26,188,873 (GRCm39) missense probably damaging 1.00
R4345:Nsd3 UTSW 8 26,131,333 (GRCm39) missense probably benign 0.04
R4370:Nsd3 UTSW 8 26,138,524 (GRCm39) missense probably benign 0.13
R4421:Nsd3 UTSW 8 26,131,288 (GRCm39) missense probably damaging 0.99
R4583:Nsd3 UTSW 8 26,200,703 (GRCm39) missense probably benign 0.20
R4664:Nsd3 UTSW 8 26,188,894 (GRCm39) missense probably damaging 1.00
R4741:Nsd3 UTSW 8 26,163,382 (GRCm39) missense probably damaging 1.00
R4876:Nsd3 UTSW 8 26,181,161 (GRCm39) missense possibly damaging 0.94
R4888:Nsd3 UTSW 8 26,188,939 (GRCm39) missense probably damaging 1.00
R5000:Nsd3 UTSW 8 26,172,593 (GRCm39) missense probably damaging 1.00
R5132:Nsd3 UTSW 8 26,168,855 (GRCm39) missense possibly damaging 0.73
R5632:Nsd3 UTSW 8 26,169,985 (GRCm39) missense probably benign 0.00
R5760:Nsd3 UTSW 8 26,149,772 (GRCm39) missense probably damaging 1.00
R5778:Nsd3 UTSW 8 26,149,834 (GRCm39) missense probably damaging 1.00
R5779:Nsd3 UTSW 8 26,172,685 (GRCm39) nonsense probably null
R5860:Nsd3 UTSW 8 26,156,107 (GRCm39) missense probably damaging 0.98
R5911:Nsd3 UTSW 8 26,156,092 (GRCm39) missense probably damaging 1.00
R6168:Nsd3 UTSW 8 26,181,188 (GRCm39) missense probably null 1.00
R6467:Nsd3 UTSW 8 26,130,646 (GRCm39) missense probably damaging 1.00
R6490:Nsd3 UTSW 8 26,204,212 (GRCm39) missense probably damaging 1.00
R6519:Nsd3 UTSW 8 26,152,955 (GRCm39) missense probably damaging 1.00
R6554:Nsd3 UTSW 8 26,152,891 (GRCm39) missense probably damaging 0.99
R7038:Nsd3 UTSW 8 26,131,279 (GRCm39) missense probably damaging 1.00
R7088:Nsd3 UTSW 8 26,156,050 (GRCm39) missense probably benign 0.40
R7244:Nsd3 UTSW 8 26,156,055 (GRCm39) missense probably damaging 0.96
R7308:Nsd3 UTSW 8 26,130,740 (GRCm39) missense probably damaging 1.00
R7678:Nsd3 UTSW 8 26,149,833 (GRCm39) missense possibly damaging 0.82
R7717:Nsd3 UTSW 8 26,172,578 (GRCm39) missense probably benign
R8064:Nsd3 UTSW 8 26,190,698 (GRCm39) nonsense probably null
R8242:Nsd3 UTSW 8 26,196,567 (GRCm39) nonsense probably null
R8312:Nsd3 UTSW 8 26,153,268 (GRCm39) missense probably damaging 1.00
R8547:Nsd3 UTSW 8 26,184,811 (GRCm39) missense probably damaging 1.00
R8954:Nsd3 UTSW 8 26,163,394 (GRCm39) missense probably damaging 1.00
R8995:Nsd3 UTSW 8 26,131,169 (GRCm39) missense probably damaging 1.00
R9026:Nsd3 UTSW 8 26,172,576 (GRCm39) missense probably benign 0.10
R9281:Nsd3 UTSW 8 26,152,961 (GRCm39) missense probably benign 0.00
R9320:Nsd3 UTSW 8 26,199,088 (GRCm39) critical splice acceptor site probably null
R9563:Nsd3 UTSW 8 26,204,230 (GRCm39) missense
R9703:Nsd3 UTSW 8 26,131,228 (GRCm39) missense probably benign 0.00
X0026:Nsd3 UTSW 8 26,190,621 (GRCm39) missense probably damaging 1.00
Z1088:Nsd3 UTSW 8 26,131,018 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGAGACTTGACATCAAGCTTCAGCC -3'
(R):5'- CCCTGTGAGAAGTGAGAAGTCCAAC -3'

Sequencing Primer
(F):5'- CTCGTCTATTCTGGAGAAATCACG -3'
(R):5'- GTGAGAAGTCCAACTTTAAGTAGC -3'
Posted On 2014-11-07