Incidental Mutation 'R7308:Nsd3'
ID 567394
Institutional Source Beutler Lab
Gene Symbol Nsd3
Ensembl Gene ENSMUSG00000054823
Gene Name nuclear receptor binding SET domain protein 3
Synonyms Whsc1l1, WHISTLE
MMRRC Submission 045323-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R7308 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 26091617-26209694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26130740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 35 (D35V)
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: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: D35V

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: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000139966
AA Change: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: D35V

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: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: D35V

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: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000146919
AA Change: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: D35V

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: D35V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: D35V

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: 99.6%
  • 20x: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,022,993 (GRCm39) I43T probably benign Het
Ankar G A 1: 72,690,953 (GRCm39) Q1175* probably null Het
Aqr G A 2: 113,934,543 (GRCm39) A1366V possibly damaging Het
Arhgap45 G A 10: 79,862,392 (GRCm39) probably null Het
Atf7ip T A 6: 136,542,087 (GRCm39) M607K probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC 3: 95,795,481 (GRCm39) probably benign Het
BC028528 TCACTGGTTCTGTGGTCACTGGTTCTGTGG TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG 3: 95,795,464 (GRCm39) probably benign Het
Bcar3 T A 3: 122,302,142 (GRCm39) V279E probably benign Het
Cd96 C T 16: 45,892,097 (GRCm39) probably null Het
Cdca2 G A 14: 67,932,440 (GRCm39) P488S probably benign Het
Cfhr4 A G 1: 139,682,041 (GRCm39) V185A possibly damaging Het
Col4a2 T G 8: 11,456,856 (GRCm39) probably null Het
Cyp4a12a A G 4: 115,184,955 (GRCm39) R379G possibly damaging Het
Defb34 A G 8: 19,176,395 (GRCm39) S29G probably benign Het
Dnah11 A G 12: 117,959,010 (GRCm39) S2958P probably damaging Het
Dync1h1 A G 12: 110,631,596 (GRCm39) D4431G possibly damaging Het
Egfem1 A T 3: 29,206,015 (GRCm39) H84L probably benign Het
Enah A T 1: 181,733,950 (GRCm39) probably null Het
Fam178b G T 1: 36,698,488 (GRCm39) Q78K probably benign Het
Glb1 A G 9: 114,302,931 (GRCm39) N589S probably damaging Het
Gm1527 C T 3: 28,956,429 (GRCm39) H132Y probably benign Het
Gm5799 A G 14: 43,781,164 (GRCm39) R22G possibly damaging Het
Grip2 T C 6: 91,755,669 (GRCm39) D617G possibly damaging Het
Hax1 A T 3: 89,905,873 (GRCm39) D5E possibly damaging Het
Hic1 A G 11: 75,057,977 (GRCm39) L304P probably damaging Het
Hmox1 T A 8: 75,823,647 (GRCm39) I105N probably damaging Het
Hormad1 T C 3: 95,469,866 (GRCm39) S38P probably damaging Het
Hspa4 A G 11: 53,157,930 (GRCm39) S558P possibly damaging Het
Kcnf1 T A 12: 17,224,730 (GRCm39) H497L probably benign Het
Kcnma1 C T 14: 23,381,003 (GRCm39) D1022N probably damaging Het
Kcnt1 T C 2: 25,790,475 (GRCm39) F479S possibly damaging Het
Krba1 T C 6: 48,383,273 (GRCm39) V203A probably benign Het
Lct G T 1: 128,246,824 (GRCm39) P233Q probably benign Het
Ly75 T C 2: 60,164,859 (GRCm39) D773G probably benign Het
Malt1 T C 18: 65,582,680 (GRCm39) probably null Het
Man1a2 A T 3: 100,527,421 (GRCm39) L333Q probably damaging Het
Mtus1 T C 8: 41,535,965 (GRCm39) T584A probably benign Het
Myof A T 19: 37,899,359 (GRCm39) S1800R probably damaging Het
Nbea A C 3: 55,998,452 (GRCm39) C118W probably damaging Het
Ntaq1 T C 15: 58,016,006 (GRCm39) V85A possibly damaging Het
Or11g24 G A 14: 50,662,722 (GRCm39) V249I possibly damaging Het
Or2y1c G A 11: 49,360,754 (GRCm39) probably benign Het
Pcnx3 C T 19: 5,736,175 (GRCm39) R217H possibly damaging Het
Pcsk4 G A 10: 80,159,007 (GRCm39) P462L probably benign Het
Pdia5 T G 16: 35,276,879 (GRCm39) K96N probably damaging Het
Pik3c2a T C 7: 115,973,074 (GRCm39) Y707C probably damaging Het
Ppig A T 2: 69,579,806 (GRCm39) N447Y unknown Het
Ppp1r9b T C 11: 94,895,397 (GRCm39) L695P possibly damaging Het
Proser1 C T 3: 53,386,125 (GRCm39) A669V probably benign Het
Rdx A T 9: 51,980,170 (GRCm39) K254N probably damaging Het
Slc35f2 T C 9: 53,705,294 (GRCm39) S95P probably benign Het
Slc4a3 T A 1: 75,534,006 (GRCm39) S1118T probably benign Het
Slf1 G A 13: 77,199,287 (GRCm39) P698L probably benign Het
Sptbn2 A G 19: 4,801,602 (GRCm39) E2338G probably benign Het
Taok3 T A 5: 117,338,216 (GRCm39) Y91* probably null Het
Tbc1d31 C T 15: 57,816,212 (GRCm39) L649F probably damaging Het
Tdpoz8 A G 3: 92,981,872 (GRCm39) T223A probably benign Het
Tmem132b A T 5: 125,864,710 (GRCm39) I939F possibly damaging Het
Trav17 T A 14: 54,044,436 (GRCm39) Y69N probably benign Het
Trmt13 T C 3: 116,388,388 (GRCm39) D16G probably benign Het
Upf2 T A 2: 5,978,329 (GRCm39) Y398N unknown Het
Vmn1r238 T C 18: 3,122,875 (GRCm39) T180A probably benign Het
Zfp738 A T 13: 67,817,672 (GRCm39) I773N probably benign Het
Zscan4e A T 7: 11,041,080 (GRCm39) M264K probably benign 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
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'- AAGAGCTTGTATAATCCTTGGTTGG -3'
(R):5'- CATTGGGATACTGATTATATGGCGG -3'

Sequencing Primer
(F):5'- ATAATCCTTGGTTGGCTTCTTGC -3'
(R):5'- ATACTGATTATATGGCGGGTATTTGG -3'
Posted On 2019-06-26