Incidental Mutation 'R0316:Nsd1'
ID 34212
Institutional Source Beutler Lab
Gene Symbol Nsd1
Ensembl Gene ENSMUSG00000021488
Gene Name nuclear receptor-binding SET-domain protein 1
Synonyms KMT3B
MMRRC Submission 038526-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0316 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55357595-55466138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55361584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 184 (I184T)
Ref Sequence ENSEMBL: ENSMUSP00000097089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099490] [ENSMUST00000224156] [ENSMUST00000224693] [ENSMUST00000224918] [ENSMUST00000224973] [ENSMUST00000225169]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099490
AA Change: I184T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: I184T

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: ENSMUST00000224156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224338
Predicted Effect probably benign
Transcript: ENSMUST00000224693
Predicted Effect probably benign
Transcript: ENSMUST00000224918
Predicted Effect possibly damaging
Transcript: ENSMUST00000224973
AA Change: I184T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000225169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225982
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.2%
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
9130401M01Rik A T 15: 57,888,765 (GRCm39) F276I probably damaging Het
Ado A G 10: 67,384,548 (GRCm39) L19P possibly damaging Het
Ago2 T C 15: 73,002,725 (GRCm39) H169R probably damaging Het
Asic1 G A 15: 99,569,819 (GRCm39) A47T probably benign Het
Atg16l2 A T 7: 100,942,603 (GRCm39) I364N probably damaging Het
C130050O18Rik G A 5: 139,400,313 (GRCm39) R122Q probably damaging Het
Capn7 T A 14: 31,069,766 (GRCm39) C197S probably benign Het
Casp16 T C 17: 23,771,066 (GRCm39) D113G probably damaging Het
Cdh18 T A 15: 23,366,999 (GRCm39) V235D probably damaging Het
Clca4a G T 3: 144,659,525 (GRCm39) T777K probably damaging Het
Col17a1 A G 19: 47,673,972 (GRCm39) probably null Het
Col5a3 C A 9: 20,686,621 (GRCm39) D1335Y unknown Het
Cpxm1 T C 2: 130,235,091 (GRCm39) E576G probably damaging Het
Dcbld2 T C 16: 58,253,808 (GRCm39) S182P probably damaging Het
Dclk1 C T 3: 55,410,313 (GRCm39) S616L probably damaging Het
Dll4 C A 2: 119,161,634 (GRCm39) D405E probably damaging Het
Dnah1 G A 14: 31,000,108 (GRCm39) R2462C probably benign Het
Dnah3 A T 7: 119,564,882 (GRCm39) Y2594N possibly damaging Het
Ess2 G A 16: 17,727,958 (GRCm39) P103S probably benign Het
Fam110a C A 2: 151,812,006 (GRCm39) A255S probably benign Het
Fbn2 G A 18: 58,246,397 (GRCm39) R502W probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Gm1527 T C 3: 28,969,923 (GRCm39) S342P probably damaging Het
Gm19668 A T 10: 77,634,564 (GRCm39) probably benign Het
Gm5901 A T 7: 105,026,522 (GRCm39) T97S probably damaging Het
Greb1l A G 18: 10,547,420 (GRCm39) Y1546C probably damaging Het
Impg1 A T 9: 80,249,347 (GRCm39) S619T probably damaging Het
Itih2 C A 2: 10,110,057 (GRCm39) Q565H possibly damaging Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lama3 T C 18: 12,652,934 (GRCm39) M218T probably benign Het
Lipg T C 18: 75,094,012 (GRCm39) S12G probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mex3d G T 10: 80,217,505 (GRCm39) P571T probably damaging Het
Neb A C 2: 52,085,482 (GRCm39) Y1538D possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b99 T A 19: 12,976,766 (GRCm39) C139S probably damaging Het
Or5w18 T C 2: 87,633,525 (GRCm39) F264S probably damaging Het
Pacs1 T C 19: 5,185,149 (GRCm39) silent Het
Pdcd11 T C 19: 47,101,611 (GRCm39) V932A probably damaging Het
Pkd2 A G 5: 104,625,032 (GRCm39) D276G probably damaging Het
Pkia T A 3: 7,502,499 (GRCm39) D25E probably damaging Het
Plxna2 A C 1: 194,326,458 (GRCm39) S131R probably damaging Het
Prelid1 T C 13: 55,472,220 (GRCm39) V132A possibly damaging Het
Psma3 T C 12: 71,030,163 (GRCm39) Y59H probably benign Het
Ptchd3 A C 11: 121,732,916 (GRCm39) E602A possibly damaging Het
Ptpro T C 6: 137,353,987 (GRCm39) V121A possibly damaging Het
Ptprt A G 2: 161,449,239 (GRCm39) L878P probably damaging Het
Pxn G A 5: 115,692,027 (GRCm39) G370S probably damaging Het
Rcn2 G T 9: 55,949,453 (GRCm39) A40S probably benign Het
Rnf215 A G 11: 4,089,760 (GRCm39) N258D probably damaging Het
Rnpc3 T C 3: 113,423,622 (GRCm39) T28A probably damaging Het
Rtel1 T A 2: 180,997,795 (GRCm39) V1100E possibly damaging Het
Scn3a T A 2: 65,291,173 (GRCm39) I1858F probably damaging Het
Slc9c1 G A 16: 45,400,595 (GRCm39) R735Q possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Spata13 A G 14: 60,929,788 (GRCm39) T449A probably benign Het
Svep1 A G 4: 58,072,737 (GRCm39) W2191R probably damaging Het
Thbs1 G A 2: 117,948,055 (GRCm39) R405H probably damaging Het
Tnn A G 1: 159,948,137 (GRCm39) Y859H possibly damaging Het
Tonsl A G 15: 76,513,500 (GRCm39) S1245P possibly damaging Het
Tpcn1 G A 5: 120,677,324 (GRCm39) T661M probably damaging Het
Trap1 A G 16: 3,863,424 (GRCm39) F533L probably benign Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Vax2 T C 6: 83,688,426 (GRCm39) S50P possibly damaging Het
Vmn1r5 A C 6: 56,962,784 (GRCm39) E153A probably benign Het
Vmn2r14 G T 5: 109,366,762 (GRCm39) P486Q probably benign Het
Vmn2r96 T A 17: 18,802,827 (GRCm39) F246I probably damaging Het
Zc3h10 C A 10: 128,380,624 (GRCm39) E244D probably damaging Het
Zdhhc18 T A 4: 133,340,966 (GRCm39) K265* 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
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
R3773: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'- ACTTGCTATGAAACAGGAGCCCAC -3'
(R):5'- ACTGGGACTGGAGTCTGGATCATC -3'

Sequencing Primer
(F):5'- AGGAGCCCACTTGTAATAACTC -3'
(R):5'- CTGGAGTCTGGATCATCCTGAAAAG -3'
Posted On 2013-05-09