Incidental Mutation 'R9281:Nsd3'
ID 703629
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R9281 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 26091617-26209694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26152961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 434 (S434P)
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 benign
Transcript: ENSMUST00000084026
AA Change: S434P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: S434P

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
AA Change: S434P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000139966
AA Change: S434P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: S434P

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: S434P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: S434P

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: S434P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000146919
AA Change: S434P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: S434P

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
AA Change: S434P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: S434P

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: 98.9%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,184 (GRCm39) I102M possibly damaging Het
2700049A03Rik G A 12: 71,205,687 (GRCm39) V444I possibly damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Ano1 A T 7: 144,149,318 (GRCm39) Y848N probably damaging Het
Arap2 C T 5: 62,906,848 (GRCm39) R57H probably damaging Het
Atp10b C T 11: 43,116,458 (GRCm39) T935I probably benign Het
Bcl11b A G 12: 107,882,257 (GRCm39) L686P possibly damaging Het
Bmp5 T C 9: 75,683,856 (GRCm39) V161A probably benign Het
C1qtnf3 A G 15: 10,978,607 (GRCm39) E196G probably benign Het
Cacng8 T A 7: 3,460,608 (GRCm39) F130L probably damaging Het
Cap1 A G 4: 122,766,226 (GRCm39) M4T probably benign Het
Ccdc57 T C 11: 120,751,413 (GRCm39) K886E probably benign Het
Cdhr2 A C 13: 54,881,703 (GRCm39) T1112P possibly damaging Het
Clcn4 A T 7: 7,294,813 (GRCm39) M316K probably benign Het
Col22a1 A T 15: 71,732,920 (GRCm39) D1099E unknown Het
Csmd3 A C 15: 47,460,272 (GRCm39) N2595K Het
Ctdspl2 A G 2: 121,841,063 (GRCm39) H451R probably benign Het
Cybrd1 A T 2: 70,968,735 (GRCm39) T203S probably benign Het
Dhx29 A G 13: 113,078,240 (GRCm39) N312S possibly damaging Het
Dhx30 A T 9: 109,929,983 (GRCm39) S38T probably benign Het
Dync2i1 G A 12: 116,211,677 (GRCm39) R277* probably null Het
Ercc8 G T 13: 108,320,364 (GRCm39) A317S probably benign Het
Fndc3a T C 14: 72,799,097 (GRCm39) T629A probably benign Het
Frmpd1 G T 4: 45,284,127 (GRCm39) A983S probably benign Het
Gm14325 T A 2: 177,473,597 (GRCm39) Y495F probably damaging Het
Gm5773 A T 3: 93,680,891 (GRCm39) T188S probably benign Het
Gpsm1 C A 2: 26,214,488 (GRCm39) N243K probably damaging Het
Inpp4a C G 1: 37,410,850 (GRCm39) H339Q probably damaging Het
Kat2b A G 17: 53,931,425 (GRCm39) D141G probably benign Het
Kdm4a A G 4: 117,995,728 (GRCm39) V1003A probably damaging Het
Lrrc25 T A 8: 71,073,246 (GRCm39) M276K probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcmdc2 G A 1: 9,994,425 (GRCm39) G406D probably damaging Het
Mfhas1 G T 8: 36,057,951 (GRCm39) A809S probably benign Het
Mier2 A T 10: 79,378,294 (GRCm39) D376E probably benign Het
Mllt3 A C 4: 87,707,566 (GRCm39) H464Q probably benign Het
Mtrex A T 13: 113,046,443 (GRCm39) C302* probably null Het
Myo6 T A 9: 80,162,164 (GRCm39) Y300* probably null Het
Myzap T C 9: 71,493,482 (GRCm39) D31G unknown Het
Nfatc1 T C 18: 80,741,190 (GRCm39) Y270C probably damaging Het
Or13p3 A G 4: 118,566,592 (GRCm39) probably benign Het
Or1e26 T A 11: 73,480,133 (GRCm39) M144L probably benign Het
Osbp2 T A 11: 3,813,375 (GRCm39) T165S probably benign Het
Plxna1 A G 6: 89,300,313 (GRCm39) V1590A probably damaging Het
Pramel7 A G 2: 87,321,495 (GRCm39) L180P probably damaging Het
Prkd1 C T 12: 50,536,758 (GRCm39) D109N probably benign Het
Ptger3 A G 3: 157,273,090 (GRCm39) M146V probably benign Het
Pts A G 9: 50,433,853 (GRCm39) V96A probably damaging Het
Rab11fip5 T C 6: 85,318,834 (GRCm39) E685G probably benign Het
Rab27a C T 9: 72,992,278 (GRCm39) T102I probably damaging Het
Reln A G 5: 22,153,545 (GRCm39) L2253P probably damaging Het
Rock1 C T 18: 10,080,479 (GRCm39) A1022T probably benign Het
Rspry1 T A 8: 95,363,259 (GRCm39) N259K probably damaging Het
Sdha A T 13: 74,472,056 (GRCm39) Y604* probably null Het
Slc12a6 A G 2: 112,164,754 (GRCm39) N151S probably benign Het
Slc26a5 T A 5: 22,019,051 (GRCm39) D596V probably benign Het
Snrpa A G 7: 26,891,051 (GRCm39) V140A probably benign Het
Spta1 T G 1: 174,047,444 (GRCm39) V1696G probably damaging Het
St13 A T 15: 81,261,927 (GRCm39) D179E probably damaging Het
Stpg4 T C 17: 87,702,671 (GRCm39) D182G probably benign Het
Synm A T 7: 67,386,048 (GRCm39) L538* probably null Het
Tigar A T 6: 127,068,157 (GRCm39) L87H probably damaging Het
Tmem67 C A 4: 12,079,962 (GRCm39) V110F possibly damaging Het
Trav6n-5 T A 14: 53,342,744 (GRCm39) L94* probably null Het
Ttf1 A G 2: 28,955,902 (GRCm39) H422R probably benign Het
Ttn A G 2: 76,619,926 (GRCm39) V15914A probably damaging Het
Vmn2r13 C A 5: 109,303,953 (GRCm39) C826F probably damaging Het
Wwc1 C G 11: 35,780,211 (GRCm39) G248A probably benign Het
Zfp120 G A 2: 149,959,615 (GRCm39) H258Y probably damaging Het
Zfp142 A G 1: 74,607,731 (GRCm39) Y1681H probably damaging Het
Zkscan3 A G 13: 21,579,045 (GRCm39) L150P possibly damaging Het
Zscan4-ps1 G T 7: 10,799,589 (GRCm39) F433L 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
R9026:Nsd3 UTSW 8 26,172,576 (GRCm39) missense probably benign 0.10
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'- GGGACATTGGCATTGCTCATG -3'
(R):5'- CACAACTGGAGACATATTACACTTCTG -3'

Sequencing Primer
(F):5'- TGCAGAGAAAGCATTGAAAATGACTC -3'
(R):5'- GCAAATCTAGGCTCCCTTTGTG -3'
Posted On 2022-03-25