Incidental Mutation 'R3773:Nsd1'
ID 273450
Institutional Source Beutler Lab
Gene Symbol Nsd1
Ensembl Gene ENSMUSG00000021488
Gene Name nuclear receptor-binding SET-domain protein 1
Synonyms KMT3B
MMRRC Submission 040749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3773 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55357595-55466138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55394486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 696 (V696I)
Ref Sequence ENSEMBL: ENSMUSP00000153677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099490] [ENSMUST00000224973]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099490
AA Change: V799I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: V799I

DomainStartEndE-ValueType
low complexity region 177 187 N/A INTRINSIC
low complexity region 281 289 N/A INTRINSIC
PWWP 322 388 1.97e-3 SMART
low complexity region 635 644 N/A INTRINSIC
low complexity region 980 1000 N/A INTRINSIC
low complexity region 1296 1309 N/A INTRINSIC
PHD 1546 1588 4.25e-8 SMART
PHD 1593 1640 3.79e-5 SMART
RING 1594 1639 1.08e-1 SMART
PHD 1641 1694 1.09e1 SMART
PHD 1710 1750 1.02e-10 SMART
PWWP 1755 1817 8.87e-29 SMART
AWS 1891 1942 3.02e-22 SMART
SET 1943 2066 1e-45 SMART
PostSET 2067 2083 3.99e-3 SMART
PHD 2121 2164 1.08e-9 SMART
low complexity region 2224 2237 N/A INTRINSIC
low complexity region 2276 2286 N/A INTRINSIC
low complexity region 2335 2356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224973
AA Change: V696I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,532,046 (GRCm39) K899N probably benign Het
Acsbg3 T C 17: 57,183,262 (GRCm39) M1T probably null Het
Adgrv1 G A 13: 81,647,162 (GRCm39) S3126L probably damaging Het
Apba3 C A 10: 81,108,443 (GRCm39) probably null Het
Apobec4 G T 1: 152,632,556 (GRCm39) A195S probably benign Het
Asap3 C T 4: 135,954,886 (GRCm39) T72I probably benign Het
Cand2 T A 6: 115,762,178 (GRCm39) H201Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chd1 A G 17: 17,594,913 (GRCm39) D16G probably damaging Het
Csgalnact2 T C 6: 118,103,180 (GRCm39) K19E probably benign Het
Cspg4b A G 13: 113,454,743 (GRCm39) E263G probably benign Het
Cyp17a1 T G 19: 46,658,162 (GRCm39) K250T probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dgcr8 T C 16: 18,074,639 (GRCm39) D712G probably damaging Het
Dsg2 T C 18: 20,724,919 (GRCm39) W442R probably damaging Het
Elavl2 C T 4: 91,152,325 (GRCm39) G131R probably damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
Ercc6l2 A G 13: 63,989,264 (GRCm39) D270G probably damaging Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Fry A T 5: 150,321,663 (GRCm39) R999S probably damaging Het
Gak G A 5: 108,730,538 (GRCm39) T956I probably benign Het
Gps2 T C 11: 69,806,927 (GRCm39) F21L probably damaging Het
Grhl3 C T 4: 135,283,158 (GRCm39) W303* probably null Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Matk T A 10: 81,094,131 (GRCm39) L21Q probably benign Het
Mthfr T C 4: 148,128,907 (GRCm39) V160A probably benign Het
Nhlrc4 T A 17: 26,162,367 (GRCm39) K127* probably null Het
Nup210l T G 3: 90,027,201 (GRCm39) Y194* probably null Het
Or1j16 A T 2: 36,530,333 (GRCm39) Y94F probably benign Het
Or2h2 G T 17: 37,396,957 (GRCm39) Y33* probably null Het
Or7a41 G A 10: 78,871,014 (GRCm39) C128Y possibly damaging Het
Or9q2 T A 19: 13,772,568 (GRCm39) M136L probably benign Het
Pcdhb15 T A 18: 37,608,943 (GRCm39) V725D probably benign Het
Pes1 A G 11: 3,925,548 (GRCm39) Y221C probably damaging Het
Prkd3 T C 17: 79,266,535 (GRCm39) I603V possibly damaging Het
Ptpn13 A G 5: 103,624,987 (GRCm39) E97G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rims1 T C 1: 22,492,034 (GRCm39) D842G probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf26rt C T 6: 76,473,942 (GRCm39) V225I probably benign Het
Rngtt T C 4: 33,330,889 (GRCm39) I164T probably damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Slco1a8 T C 6: 141,918,061 (GRCm39) K605R probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
Stxbp5 G A 10: 9,644,671 (GRCm39) T960I probably damaging Het
Suco A T 1: 161,671,565 (GRCm39) probably null Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tmem131l A G 3: 83,805,893 (GRCm39) S1517P probably damaging Het
Trio A G 15: 27,748,177 (GRCm39) S2492P probably damaging Het
Tsg101 T C 7: 46,539,363 (GRCm39) *254W probably null Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Upb1 T A 10: 75,275,672 (GRCm39) probably null Het
Vmn1r32 T A 6: 66,530,351 (GRCm39) I142F probably benign Het
Vmn1r60 C A 7: 5,547,710 (GRCm39) C130F possibly damaging Het
Vmn2r101 A G 17: 19,809,919 (GRCm39) D235G probably benign Het
Wnk1 C T 6: 119,979,241 (GRCm39) R282Q possibly damaging Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 T C 15: 88,665,050 (GRCm39) S373P probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp423 A T 8: 88,507,140 (GRCm39) L1047Q probably benign Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zfp61 T C 7: 23,995,406 (GRCm39) M1V probably null Het
Other mutations in Nsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Nsd1 APN 13 55,386,548 (GRCm39) missense probably damaging 1.00
IGL01060:Nsd1 APN 13 55,411,242 (GRCm39) missense probably damaging 1.00
IGL01125:Nsd1 APN 13 55,393,430 (GRCm39) missense probably damaging 1.00
IGL01746:Nsd1 APN 13 55,424,328 (GRCm39) splice site probably null
IGL02437:Nsd1 APN 13 55,461,254 (GRCm39) missense probably damaging 1.00
IGL02530:Nsd1 APN 13 55,450,646 (GRCm39) splice site probably benign
IGL02557:Nsd1 APN 13 55,460,261 (GRCm39) missense probably damaging 1.00
IGL02572:Nsd1 APN 13 55,443,943 (GRCm39) missense probably damaging 1.00
IGL02665:Nsd1 APN 13 55,443,996 (GRCm39) missense probably damaging 1.00
IGL02870:Nsd1 APN 13 55,461,416 (GRCm39) missense probably benign 0.06
IGL03181:Nsd1 APN 13 55,394,858 (GRCm39) missense probably damaging 1.00
Amanuensis UTSW 13 55,409,439 (GRCm39) nonsense probably null
handwriting UTSW 13 55,461,359 (GRCm39) missense
Prothonotary UTSW 13 55,430,570 (GRCm39) missense probably damaging 1.00
scribe UTSW 13 55,439,049 (GRCm39) missense probably damaging 1.00
stenographer UTSW 13 55,446,189 (GRCm39) splice site probably null
PIT4480001:Nsd1 UTSW 13 55,361,731 (GRCm39) missense probably benign 0.11
R0316:Nsd1 UTSW 13 55,361,584 (GRCm39) missense probably damaging 0.98
R0519:Nsd1 UTSW 13 55,460,648 (GRCm39) missense probably benign 0.04
R0542:Nsd1 UTSW 13 55,408,271 (GRCm39) missense possibly damaging 0.93
R0563:Nsd1 UTSW 13 55,394,391 (GRCm39) missense possibly damaging 0.48
R0652:Nsd1 UTSW 13 55,395,399 (GRCm39) missense possibly damaging 0.92
R0906:Nsd1 UTSW 13 55,425,403 (GRCm39) missense probably benign 0.30
R1560:Nsd1 UTSW 13 55,394,533 (GRCm39) nonsense probably null
R1572:Nsd1 UTSW 13 55,394,782 (GRCm39) missense probably damaging 0.98
R1693:Nsd1 UTSW 13 55,395,074 (GRCm39) missense probably benign
R1697:Nsd1 UTSW 13 55,361,872 (GRCm39) critical splice acceptor site probably null
R1720:Nsd1 UTSW 13 55,394,711 (GRCm39) missense probably damaging 0.98
R1829:Nsd1 UTSW 13 55,394,182 (GRCm39) missense probably damaging 1.00
R1834:Nsd1 UTSW 13 55,461,164 (GRCm39) missense possibly damaging 0.52
R1842:Nsd1 UTSW 13 55,394,258 (GRCm39) missense probably damaging 1.00
R1880:Nsd1 UTSW 13 55,361,606 (GRCm39) missense probably damaging 0.99
R2022:Nsd1 UTSW 13 55,361,092 (GRCm39) missense probably damaging 0.99
R2075:Nsd1 UTSW 13 55,458,313 (GRCm39) missense possibly damaging 0.74
R2143:Nsd1 UTSW 13 55,408,210 (GRCm39) missense probably damaging 1.00
R2151:Nsd1 UTSW 13 55,439,049 (GRCm39) missense probably damaging 1.00
R2316:Nsd1 UTSW 13 55,381,779 (GRCm39) missense probably damaging 1.00
R2359:Nsd1 UTSW 13 55,361,524 (GRCm39) missense possibly damaging 0.90
R2361:Nsd1 UTSW 13 55,361,524 (GRCm39) missense possibly damaging 0.90
R2656:Nsd1 UTSW 13 55,394,681 (GRCm39) missense probably damaging 1.00
R2849:Nsd1 UTSW 13 55,361,505 (GRCm39) missense probably damaging 0.99
R3237:Nsd1 UTSW 13 55,460,701 (GRCm39) missense possibly damaging 0.92
R3772:Nsd1 UTSW 13 55,394,486 (GRCm39) missense probably benign 0.00
R3849:Nsd1 UTSW 13 55,394,504 (GRCm39) missense probably benign 0.00
R3951:Nsd1 UTSW 13 55,416,267 (GRCm39) missense probably benign 0.05
R4036:Nsd1 UTSW 13 55,361,524 (GRCm39) missense possibly damaging 0.90
R4073:Nsd1 UTSW 13 55,395,541 (GRCm39) missense probably benign 0.28
R4080:Nsd1 UTSW 13 55,449,622 (GRCm39) missense probably damaging 0.96
R4226:Nsd1 UTSW 13 55,408,214 (GRCm39) missense probably damaging 1.00
R4485:Nsd1 UTSW 13 55,393,434 (GRCm39) missense probably benign
R4703:Nsd1 UTSW 13 55,361,876 (GRCm39) missense probably damaging 1.00
R4853:Nsd1 UTSW 13 55,416,317 (GRCm39) missense probably benign 0.30
R4915:Nsd1 UTSW 13 55,424,341 (GRCm39) missense probably benign 0.00
R4915:Nsd1 UTSW 13 55,395,681 (GRCm39) missense possibly damaging 0.65
R5264:Nsd1 UTSW 13 55,395,159 (GRCm39) missense possibly damaging 0.49
R5348:Nsd1 UTSW 13 55,460,147 (GRCm39) missense probably benign 0.00
R5473:Nsd1 UTSW 13 55,395,585 (GRCm39) missense probably damaging 1.00
R5498:Nsd1 UTSW 13 55,361,115 (GRCm39) nonsense probably null
R5503:Nsd1 UTSW 13 55,393,752 (GRCm39) missense probably damaging 1.00
R5511:Nsd1 UTSW 13 55,460,543 (GRCm39) missense probably benign 0.00
R5683:Nsd1 UTSW 13 55,393,961 (GRCm39) missense probably benign 0.00
R5778:Nsd1 UTSW 13 55,454,792 (GRCm39) missense probably damaging 1.00
R5793:Nsd1 UTSW 13 55,395,819 (GRCm39) missense probably benign
R5922:Nsd1 UTSW 13 55,395,288 (GRCm39) missense probably benign 0.01
R5956:Nsd1 UTSW 13 55,411,217 (GRCm39) missense probably damaging 1.00
R6053:Nsd1 UTSW 13 55,441,422 (GRCm39) missense probably damaging 1.00
R6141:Nsd1 UTSW 13 55,439,097 (GRCm39) missense probably damaging 1.00
R6158:Nsd1 UTSW 13 55,393,434 (GRCm39) missense probably benign
R6224:Nsd1 UTSW 13 55,460,945 (GRCm39) missense possibly damaging 0.85
R6396:Nsd1 UTSW 13 55,386,602 (GRCm39) missense probably damaging 1.00
R6598:Nsd1 UTSW 13 55,441,515 (GRCm39) missense possibly damaging 0.94
R7170:Nsd1 UTSW 13 55,409,439 (GRCm39) nonsense probably null
R7205:Nsd1 UTSW 13 55,394,283 (GRCm39) missense probably damaging 1.00
R7215:Nsd1 UTSW 13 55,395,454 (GRCm39) missense probably benign 0.00
R7337:Nsd1 UTSW 13 55,394,022 (GRCm39) missense probably damaging 1.00
R7432:Nsd1 UTSW 13 55,361,187 (GRCm39) missense probably benign
R7638:Nsd1 UTSW 13 55,460,141 (GRCm39) missense probably benign 0.01
R7647:Nsd1 UTSW 13 55,447,648 (GRCm39) missense probably damaging 0.96
R7658:Nsd1 UTSW 13 55,425,452 (GRCm39) missense probably damaging 1.00
R7884:Nsd1 UTSW 13 55,461,068 (GRCm39) missense probably damaging 0.99
R8032:Nsd1 UTSW 13 55,458,196 (GRCm39) missense probably damaging 1.00
R8113:Nsd1 UTSW 13 55,393,434 (GRCm39) missense probably benign
R8152:Nsd1 UTSW 13 55,458,180 (GRCm39) missense possibly damaging 0.49
R8183:Nsd1 UTSW 13 55,460,186 (GRCm39) missense probably damaging 1.00
R8432:Nsd1 UTSW 13 55,395,516 (GRCm39) missense possibly damaging 0.91
R8462:Nsd1 UTSW 13 55,446,189 (GRCm39) splice site probably null
R8469:Nsd1 UTSW 13 55,425,366 (GRCm39) missense possibly damaging 0.76
R8756:Nsd1 UTSW 13 55,461,506 (GRCm39) missense probably benign 0.00
R8867:Nsd1 UTSW 13 55,430,570 (GRCm39) missense probably damaging 1.00
R9035:Nsd1 UTSW 13 55,393,667 (GRCm39) missense possibly damaging 0.79
R9101:Nsd1 UTSW 13 55,461,359 (GRCm39) missense
R9154:Nsd1 UTSW 13 55,361,253 (GRCm39) missense probably damaging 1.00
R9155:Nsd1 UTSW 13 55,361,253 (GRCm39) missense probably damaging 1.00
R9262:Nsd1 UTSW 13 55,394,871 (GRCm39) missense possibly damaging 0.92
R9592:Nsd1 UTSW 13 55,424,355 (GRCm39) missense probably damaging 1.00
R9604:Nsd1 UTSW 13 55,381,807 (GRCm39) missense probably benign 0.25
R9712:Nsd1 UTSW 13 55,393,856 (GRCm39) missense possibly damaging 0.81
R9716:Nsd1 UTSW 13 55,458,313 (GRCm39) missense possibly damaging 0.74
R9787:Nsd1 UTSW 13 55,461,518 (GRCm39) missense probably benign 0.15
Z1088:Nsd1 UTSW 13 55,361,661 (GRCm39) missense possibly damaging 0.83
Z1176:Nsd1 UTSW 13 55,393,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGAAACTGCTGAGTTGTC -3'
(R):5'- AAGAACGTGCTTCACCACTG -3'

Sequencing Primer
(F):5'- GAGTTGTCTCAGGTCAATCTTTC -3'
(R):5'- ACTGCTGTTTCTATGTCACTAGAATC -3'
Posted On 2015-03-25