Incidental Mutation 'R9026:Nsd3'
ID 686741
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission 068855-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R9026 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26091617-26209694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26172576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 778 (S778R)
Ref Sequence ENSEMBL: ENSMUSP00000081040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000146919]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084026
AA Change: S778R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: S778R

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: ENSMUST00000139966
AA Change: S778R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: S778R

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 benign
Transcript: ENSMUST00000142395
AA Change: S778R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: S778R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,770,909 (GRCm39) Q33K possibly damaging Het
Acap2 A G 16: 30,925,906 (GRCm39) L550P probably damaging Het
Acsm3 A T 7: 119,373,845 (GRCm39) S244C probably benign Het
Adam28 T A 14: 68,846,593 (GRCm39) D740V probably benign Het
Adcy4 C A 14: 56,016,426 (GRCm39) V342L probably damaging Het
Adcyap1r1 A G 6: 55,458,107 (GRCm39) T303A probably benign Het
Agr2 T C 12: 36,046,091 (GRCm39) V74A probably benign Het
Akp3 A T 1: 87,054,786 (GRCm39) T374S possibly damaging Het
Ankrd36 A T 11: 5,610,696 (GRCm39) I1181L probably benign Het
Arhgap11a A T 2: 113,664,411 (GRCm39) V624E probably benign Het
Arhgap30 A T 1: 171,228,258 (GRCm39) D112V probably damaging Het
Atp8b4 A G 2: 126,184,883 (GRCm39) F927L probably benign Het
Bend4 C A 5: 67,584,475 (GRCm39) G150C unknown Het
Cd300lg T A 11: 101,944,998 (GRCm39) S403T probably damaging Het
Cep57l1 T A 10: 41,607,086 (GRCm39) Q159L probably damaging Het
Cipc C T 12: 86,999,634 (GRCm39) T57M probably damaging Het
Def8 T C 8: 124,186,391 (GRCm39) C377R probably damaging Het
Dock1 A G 7: 134,720,746 (GRCm39) D1285G probably damaging Het
Efcab10 A G 12: 33,448,398 (GRCm39) D77G probably damaging Het
Eml4 C T 17: 83,764,479 (GRCm39) T663M probably damaging Het
Ercc8 A G 13: 108,320,389 (GRCm39) E325G possibly damaging Het
Ermap C A 4: 119,035,240 (GRCm39) A583S probably damaging Het
F13a1 C T 13: 37,102,506 (GRCm39) G406S probably null Het
Faap20 T A 4: 155,335,426 (GRCm39) C141S probably benign Het
Fam193a A G 5: 34,616,536 (GRCm39) T904A possibly damaging Het
Garin2 T C 12: 78,757,097 (GRCm39) F18S probably benign Het
Gas8 A G 8: 124,260,134 (GRCm39) D455G probably benign Het
Gm21863 T C 12: 20,004,521 (GRCm39) S6P probably damaging Het
Gm4841 A T 18: 60,403,988 (GRCm39) I35N probably damaging Het
Grk4 T A 5: 34,877,084 (GRCm39) C260S probably damaging Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ighv5-6 A G 12: 113,589,247 (GRCm39) Y78H probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kl T A 5: 150,876,491 (GRCm39) S104T probably benign Het
Lyve1 C A 7: 110,453,182 (GRCm39) C138F probably damaging Het
Med27 G A 2: 29,399,446 (GRCm39) W92* probably null Het
Mical3 A T 6: 120,986,848 (GRCm39) probably benign Het
Mrgpra4 C A 7: 47,631,208 (GRCm39) R131L possibly damaging Het
Myf5 T C 10: 107,321,308 (GRCm39) N162S probably benign Het
Myh15 G A 16: 49,007,433 (GRCm39) E1835K probably damaging Het
Myo9a T A 9: 59,716,757 (GRCm39) Y486N probably damaging Het
Ncapg T A 5: 45,853,115 (GRCm39) N860K probably benign Het
Nr4a3 T C 4: 48,052,194 (GRCm39) F316S possibly damaging Het
Or2r2 A G 6: 42,463,795 (GRCm39) F111L probably damaging Het
Or4c119 A T 2: 88,986,988 (GRCm39) V177E probably benign Het
Or4c31 A G 2: 88,292,196 (GRCm39) I190V probably damaging Het
Or5p6 A G 7: 107,631,286 (GRCm39) F88S probably damaging Het
Or7e173 T C 9: 19,938,344 (GRCm39) N297D Het
Or8b37 T A 9: 37,958,885 (GRCm39) Y122* probably null Het
Or8w1 A T 2: 87,465,369 (GRCm39) C241S probably damaging Het
Or9m2 A G 2: 87,820,568 (GRCm39) T38A probably damaging Het
Pdlim4 C T 11: 53,946,280 (GRCm39) G231S probably benign Het
Pknox2 C T 9: 36,821,044 (GRCm39) V273I possibly damaging Het
Pm20d1 A G 1: 131,739,822 (GRCm39) H390R probably benign Het
Prkg2 A T 5: 99,114,386 (GRCm39) D587E probably benign Het
Prps1l1 T A 12: 35,035,546 (GRCm39) D220E possibly damaging Het
Prss3l A G 6: 41,422,990 (GRCm39) F4L probably benign Het
Ptchd3 T C 11: 121,721,682 (GRCm39) V185A possibly damaging Het
Rag2 A T 2: 101,460,494 (GRCm39) N268I possibly damaging Het
Rarres2 A G 6: 48,549,020 (GRCm39) probably null Het
Rrp12 T C 19: 41,860,223 (GRCm39) H1000R probably benign Het
S100a2 A T 3: 90,498,811 (GRCm39) Y104F unknown Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpinb6d A T 13: 33,851,656 (GRCm39) T138S possibly damaging Het
Slamf7 T A 1: 171,466,312 (GRCm39) I228F probably benign Het
Slc11a1 G A 1: 74,416,325 (GRCm39) V92M probably damaging Het
Spi1 A G 2: 90,912,862 (GRCm39) N5S unknown Het
Stard9 G T 2: 120,536,283 (GRCm39) D4151Y probably damaging Het
Stmnd1 A G 13: 46,452,983 (GRCm39) T220A probably benign Het
Tacc2 G T 7: 130,225,266 (GRCm39) W650C probably damaging Het
Tmc5 A G 7: 118,241,594 (GRCm39) N429S possibly damaging Het
Tmem201 A C 4: 149,812,627 (GRCm39) L230V probably benign Het
Tmem222 T C 4: 132,997,119 (GRCm39) E94G possibly damaging Het
Trappc4 A G 9: 44,315,655 (GRCm39) F186S probably damaging Het
Trim17 A G 11: 58,862,273 (GRCm39) N435S probably benign Het
Trim68 A T 7: 102,329,447 (GRCm39) L227Q probably damaging Het
Tuba3b T G 6: 145,563,996 (GRCm39) V14G possibly damaging Het
Ubr2 G T 17: 47,245,041 (GRCm39) H1662N probably damaging Het
Vps13c T A 9: 67,861,863 (GRCm39) V2915E probably damaging Het
Vsig10 C T 5: 117,476,323 (GRCm39) T259I probably benign Het
Zfp267 A G 3: 36,219,066 (GRCm39) Y363C possibly damaging 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
R1424:Nsd3 UTSW 8 26,190,594 (GRCm39) missense probably damaging 1.00
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
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'- AGCTCAGAGTCCTCACCTAG -3'
(R):5'- ATAAACAGAAGGCCTGCCGC -3'

Sequencing Primer
(F):5'- CCCAACACTTTGAATGGTTC -3'
(R):5'- CCTGCCGCCATTGCTGG -3'
Posted On 2021-11-19