Incidental Mutation 'R6467:Nsd3'
ID 516647
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission 044600-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R6467 (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 26130646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 4 (S4T)
Ref Sequence ENSEMBL: ENSMUSP00000117596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000136107] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000143445] [ENSMUST00000146919] [ENSMUST00000155861]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084026
AA Change: S4T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: S4T

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 damaging
Transcript: ENSMUST00000136107
AA Change: S4T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000139966
AA Change: S4T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: S4T

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: S4T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: S4T

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 damaging
Transcript: ENSMUST00000143445
AA Change: S4T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000146919
AA Change: S4T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: S4T

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 damaging
Transcript: ENSMUST00000155861
AA Change: S4T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: S4T

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
Meta Mutation Damage Score 0.0786 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (72/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T C 15: 101,092,722 (GRCm39) W122R possibly damaging Het
Adgrv1 C T 13: 81,592,657 (GRCm39) R4294H probably benign Het
Afdn A G 17: 14,024,315 (GRCm39) T74A probably damaging Het
Aff3 T A 1: 38,247,098 (GRCm39) D829V probably benign Het
Akr1c12 T C 13: 4,325,772 (GRCm39) Q107R probably benign Het
Apc T A 18: 34,402,252 (GRCm39) F131I probably benign Het
Atosb A T 4: 43,033,687 (GRCm39) F489I probably damaging Het
Atp13a1 T A 8: 70,259,424 (GRCm39) L1036H probably damaging Het
BC035044 A C 6: 128,867,855 (GRCm39) probably benign Het
C1rl A G 6: 124,485,535 (GRCm39) D302G probably benign Het
C2cd6 A C 1: 59,117,093 (GRCm39) D133E probably benign Het
Cacna1c T A 6: 118,629,671 (GRCm39) Y1061F probably damaging Het
Cav1 A G 6: 17,308,034 (GRCm39) D62G probably damaging Het
Ccdc77 T C 6: 120,327,242 (GRCm39) M68V probably damaging Het
Cd55 A T 1: 130,375,348 (GRCm39) probably benign Het
Cdc27 C A 11: 104,413,602 (GRCm39) A380S probably damaging Het
Cenpb A T 2: 131,021,477 (GRCm39) I107K probably damaging Het
Cep135 T G 5: 76,769,187 (GRCm39) H612Q possibly damaging Het
Chd1l A T 3: 97,470,849 (GRCm39) N815K probably damaging Het
Cldn20 C T 17: 3,582,992 (GRCm39) T55M possibly damaging Het
Depdc1a A T 3: 159,221,679 (GRCm39) I208L probably benign Het
Dgkb C T 12: 38,134,223 (GRCm39) A43V possibly damaging Het
Dgkb C T 12: 38,654,104 (GRCm39) T741I probably damaging Het
Dhx16 A G 17: 36,197,076 (GRCm39) N653S probably damaging Het
Dnah5 T A 15: 28,438,329 (GRCm39) S3987T probably benign Het
Dnai4 T C 4: 102,906,758 (GRCm39) D685G probably damaging Het
Dst T A 1: 34,334,277 (GRCm39) I4835N probably damaging Het
Esrrb A G 12: 86,561,114 (GRCm39) I288V probably damaging Het
Fnta C T 8: 26,497,341 (GRCm39) W169* probably null Het
Golga4 T C 9: 118,365,860 (GRCm39) L304P probably damaging Het
Hace1 A G 10: 45,466,362 (GRCm39) probably null Het
Ino80b G T 6: 83,101,112 (GRCm39) probably null Het
Kcmf1 G A 6: 72,820,082 (GRCm39) R306C probably damaging Het
Lrrc46 G A 11: 96,927,305 (GRCm39) T92I possibly damaging Het
Man2b1 T C 8: 85,824,076 (GRCm39) V991A possibly damaging Het
Mga A G 2: 119,776,776 (GRCm39) N1770S probably damaging Het
Mgat4e T C 1: 134,468,944 (GRCm39) T367A probably benign Het
Mtr A G 13: 12,202,992 (GRCm39) S1204P probably damaging Het
Myo15a G A 11: 60,417,487 (GRCm39) probably null Het
Nktr T C 9: 121,560,585 (GRCm39) S74P probably damaging Het
Noct T C 3: 51,157,508 (GRCm39) V282A possibly damaging Het
Nol11 A T 11: 107,071,912 (GRCm39) I227K possibly damaging Het
Or5m10b T A 2: 85,699,714 (GRCm39) Y259* probably null Het
Or5p64 A G 7: 107,855,109 (GRCm39) S79P probably damaging Het
Pds5a T A 5: 65,809,782 (GRCm39) L393F probably damaging Het
Prex2 C T 1: 11,336,259 (GRCm39) R1486C probably damaging Het
Rc3h2 T C 2: 37,272,028 (GRCm39) T768A probably damaging Het
Rin3 A T 12: 102,335,584 (GRCm39) E418D probably benign Het
Rnf214 G T 9: 45,778,886 (GRCm39) T586N probably damaging Het
Samd4b A G 7: 28,101,285 (GRCm39) S667P probably damaging Het
Sec14l2 T C 11: 4,061,161 (GRCm39) Y100C probably damaging Het
Slc46a2 T C 4: 59,914,077 (GRCm39) E282G probably benign Het
Themis A C 10: 28,657,762 (GRCm39) N110T possibly damaging Het
Tln1 C A 4: 43,543,165 (GRCm39) S1333I probably benign Het
Tmem53 T C 4: 117,125,625 (GRCm39) V224A possibly damaging Het
Tmtc4 T A 14: 123,163,391 (GRCm39) K664N possibly damaging Het
Tnni3k T C 3: 154,674,922 (GRCm39) D201G probably damaging Het
Tnxb A G 17: 34,912,898 (GRCm39) E1681G probably damaging Het
Trhde A T 10: 114,340,103 (GRCm39) D567E probably damaging Het
Tsc2 T C 17: 24,828,101 (GRCm39) M788V probably benign Het
Ube3a A G 7: 58,926,650 (GRCm39) Y476C probably damaging Het
Ubiad1 T C 4: 148,520,682 (GRCm39) N314S possibly damaging Het
Unc79 T A 12: 103,139,771 (GRCm39) N2375K probably damaging Het
Vmn2r107 A T 17: 20,595,939 (GRCm39) I831F probably damaging Het
Vwa3b T A 1: 37,124,367 (GRCm39) C322S probably benign Het
Wnk1 A T 6: 119,939,916 (GRCm39) H238Q probably benign Het
Wnk2 A G 13: 49,300,081 (GRCm39) Y210H probably damaging Het
Wwc2 T C 8: 48,304,943 (GRCm39) D894G unknown Het
Yes1 T A 5: 32,810,381 (GRCm39) F180Y probably damaging Het
Yju2b T C 8: 84,985,318 (GRCm39) E317G probably benign Het
Zbtb46 T C 2: 181,033,062 (GRCm39) Y533C probably damaging Het
Zfp57 T C 17: 37,316,942 (GRCm39) S7P possibly damaging Het
Zzef1 T C 11: 72,802,090 (GRCm39) 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
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
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'- CCTAAAGTTGCTATGGAAGTAAGCAG -3'
(R):5'- GTAGCCATTTGTGAGCGGAG -3'

Sequencing Primer
(F):5'- GTCAGGAGACTCCCCAGTTTAAG -3'
(R):5'- TCTGTTGTAGGTGGATATTGAAAACC -3'
Posted On 2018-05-21