Incidental Mutation 'R3414:Nsd3'
ID 266734
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission 040632-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R3414 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26091617-26209694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26190047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 135 (I135T)
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 possibly damaging
Transcript: ENSMUST00000084026
AA Change: I1086T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: I1086T

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 possibly damaging
Transcript: ENSMUST00000139966
AA Change: I1037T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: I1037T

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 possibly damaging
Transcript: ENSMUST00000142395
AA Change: I1086T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: I1086T

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: I135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
AA Change: I135T

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 0.1600 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (42/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,559 (GRCm39) Q802L probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
AW554918 C A 18: 25,533,129 (GRCm39) T261K possibly damaging Het
Cttnbp2 A G 6: 18,389,204 (GRCm39) V1178A probably benign Het
Ddx18 T C 1: 121,489,878 (GRCm39) N177S probably benign Het
Dhx29 A G 13: 113,083,807 (GRCm39) K621E probably damaging Het
Eef2 G T 10: 81,013,692 (GRCm39) R66L probably damaging Het
Ergic2 A G 6: 148,108,179 (GRCm39) probably benign Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Hace1 T A 10: 45,524,771 (GRCm39) D234E possibly damaging Het
Ifi202b A G 1: 173,791,479 (GRCm39) S400P probably benign Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Il7 G T 3: 7,641,093 (GRCm39) Q67K probably benign Het
Inpp5d C A 1: 87,595,779 (GRCm39) T175N possibly damaging Het
Klk1b26 A G 7: 43,666,297 (GRCm39) I247V probably benign Het
Klrc1 A G 6: 129,654,726 (GRCm39) probably null Het
Lama1 T C 17: 68,044,598 (GRCm39) C166R probably damaging Het
Mrps5 A G 2: 127,438,832 (GRCm39) D219G probably benign Het
Mtus1 T C 8: 41,501,100 (GRCm39) T806A probably damaging Het
Naip2 G A 13: 100,325,771 (GRCm39) R46* probably null Het
Nos2 A T 11: 78,848,414 (GRCm39) Y1107F probably benign Het
Or13c7b C T 4: 43,821,258 (GRCm39) M34I probably benign Het
Or2d4 G T 7: 106,543,383 (GRCm39) S275* probably null Het
Or6c65 A G 10: 129,604,301 (GRCm39) H312R probably benign Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Ppip5k1 A T 2: 121,158,142 (GRCm39) S252R probably damaging Het
Proc T A 18: 32,256,738 (GRCm39) T310S probably benign Het
Psg21 A T 7: 18,386,305 (GRCm39) L227Q probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sec24a T A 11: 51,620,285 (GRCm39) N456Y probably damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Spata13 A G 14: 60,944,172 (GRCm39) T522A probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Unc13b T A 4: 43,234,658 (GRCm39) probably benign Het
Utp25 A C 1: 192,810,810 (GRCm39) S64R possibly damaging Het
Vmn1r2 T A 4: 3,172,696 (GRCm39) M205K probably damaging Het
Zfhx4 A G 3: 5,468,883 (GRCm39) K3014E probably 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
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'- CAGAGCGTGTCTAGGATGGTAG -3'
(R):5'- TACCTGAAATCAAGGGACAATGTC -3'

Sequencing Primer
(F):5'- GATGGTAGAATGTAACTTCCCACGC -3'
(R):5'- TGTCTGGAAAAGGAAGGCTAAAGGTC -3'
Posted On 2015-02-18