Incidental Mutation 'R7215:Nsd1'
ID 561411
Institutional Source Beutler Lab
Gene Symbol Nsd1
Ensembl Gene ENSMUSG00000021488
Gene Name nuclear receptor-binding SET-domain protein 1
Synonyms KMT3B
MMRRC Submission 045287-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7215 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55357595-55466138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55395454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1121 (D1121E)
Ref Sequence ENSEMBL: ENSMUSP00000097089 (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: D1121E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: D1121E

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: D1018E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,471,690 (GRCm39) V1032M possibly damaging Het
Abca13 T A 11: 9,238,405 (GRCm39) probably null Het
Adamts14 T A 10: 61,047,375 (GRCm39) H739L possibly damaging Het
Adgrl3 A G 5: 81,841,397 (GRCm39) E758G probably damaging Het
Ano3 T A 2: 110,496,277 (GRCm39) T826S probably damaging Het
Arhgap45 C T 10: 79,861,316 (GRCm39) T493I possibly damaging Het
Atg9b A C 5: 24,593,039 (GRCm39) W455G probably damaging Het
Atp4a A G 7: 30,416,785 (GRCm39) N496S possibly damaging Het
Bckdk T A 7: 127,504,282 (GRCm39) D60E possibly damaging Het
Blmh A T 11: 76,856,725 (GRCm39) K244* probably null Het
Btbd17 T C 11: 114,682,291 (GRCm39) I474V possibly damaging Het
C87436 A G 6: 86,439,662 (GRCm39) E451G possibly damaging Het
Camta1 T C 4: 151,229,194 (GRCm39) E546G probably damaging Het
Casp1 A G 9: 5,298,523 (GRCm39) probably null Het
Ccdc116 A G 16: 16,957,792 (GRCm39) Y456H probably damaging Het
Cep350 A C 1: 155,770,453 (GRCm39) S1812R possibly damaging Het
Chrna10 A G 7: 101,761,415 (GRCm39) L392P possibly damaging Het
Col22a1 A T 15: 71,842,181 (GRCm39) C434* probably null Het
Cxcl9 G A 5: 92,471,747 (GRCm39) Q98* probably null Het
Cyp2c54 G A 19: 40,034,626 (GRCm39) T348I probably damaging Het
Dnah7a G A 1: 53,657,509 (GRCm39) R756C probably damaging Het
Dnajc18 T C 18: 35,815,034 (GRCm39) T239A probably benign Het
Dnase2a A T 8: 85,636,399 (GRCm39) probably null Het
Dpyd A G 3: 119,059,681 (GRCm39) T793A probably benign Het
Edil3 T C 13: 88,970,169 (GRCm39) probably null Het
Ehd1 T A 19: 6,347,672 (GRCm39) I342N possibly damaging Het
Erbb4 A T 1: 68,378,619 (GRCm39) S341T probably benign Het
Ezh1 T A 11: 101,106,125 (GRCm39) T87S probably benign Het
Fam20b A T 1: 156,518,123 (GRCm39) W224R probably damaging Het
Galns A T 8: 123,326,087 (GRCm39) probably null Het
Gm13283 C T 4: 88,678,967 (GRCm39) probably benign Het
Gm49342 A T 14: 51,182,040 (GRCm39) M23L probably benign Het
Gm5114 T A 7: 39,060,795 (GRCm39) H18L probably benign Het
Gpr89 A G 3: 96,787,404 (GRCm39) W299R probably damaging Het
Hadha G T 5: 30,324,840 (GRCm39) N755K probably benign Het
Inpp5d A T 1: 87,628,940 (GRCm39) H620L probably benign Het
Klk1b3 T A 7: 43,849,828 (GRCm39) probably null Het
Macf1 T C 4: 123,401,097 (GRCm39) T663A probably damaging Het
Man1b1 A G 2: 25,240,402 (GRCm39) N601S probably benign Het
Mbtps1 A G 8: 120,251,307 (GRCm39) V605A possibly damaging Het
Med23 C G 10: 24,764,327 (GRCm39) D311E probably benign Het
Myo3a G T 2: 22,250,378 (GRCm39) D82Y possibly damaging Het
Odad1 C T 7: 45,586,046 (GRCm39) R148C probably damaging Het
Or4c116 G A 2: 88,942,845 (GRCm39) Q4* probably null Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or8b3b A G 9: 38,584,743 (GRCm39) I12T probably benign Het
Otoa T C 7: 120,717,795 (GRCm39) V19A unknown Het
Pcdhb20 A T 18: 37,638,439 (GRCm39) T322S probably benign Het
Pecam1 T C 11: 106,586,745 (GRCm39) T257A probably benign Het
Pi16 G T 17: 29,538,072 (GRCm39) probably benign Het
Pik3c2g C T 6: 139,700,589 (GRCm39) T293M Het
Pira13 C T 7: 3,825,310 (GRCm39) C444Y unknown Het
Pkhd1l1 T A 15: 44,391,559 (GRCm39) C1542S possibly damaging Het
Prrc2b G A 2: 32,119,309 (GRCm39) G2172R probably damaging Het
Prrt1 A T 17: 34,848,677 (GRCm39) probably null Het
Ptprb T A 10: 116,174,681 (GRCm39) N784K possibly damaging Het
Rem1 C A 2: 152,470,069 (GRCm39) S18R probably damaging Het
Ripk4 G A 16: 97,548,523 (GRCm39) probably null Het
Scn8a G A 15: 100,927,711 (GRCm39) V1397I possibly damaging Het
Setbp1 T A 18: 78,900,052 (GRCm39) H1205L probably damaging Het
Shmt1 T C 11: 60,692,361 (GRCm39) I132V probably damaging Het
Slc24a1 T A 9: 64,835,785 (GRCm39) T781S unknown Het
Sncaip C T 18: 53,040,415 (GRCm39) Q870* probably null Het
Stab1 A T 14: 30,882,754 (GRCm39) N416K possibly damaging Het
Tcea1 A G 1: 4,937,706 (GRCm39) D26G probably damaging Het
Tcf20 A T 15: 82,737,690 (GRCm39) S1254T probably benign Het
Tead4 T A 6: 128,205,641 (GRCm39) I354F probably damaging Het
Tex36 G A 7: 133,189,147 (GRCm39) R142* probably null Het
Trav6d-3 T A 14: 52,962,799 (GRCm39) L12Q probably damaging Het
Trpc4 A G 3: 54,102,317 (GRCm39) T72A possibly damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Tspoap1 T A 11: 87,661,315 (GRCm39) I589N probably benign Het
Ttll5 T A 12: 85,980,170 (GRCm39) V918E probably benign Het
Tut4 T C 4: 108,384,205 (GRCm39) Y1091H probably damaging Het
Txn2 A G 15: 77,811,886 (GRCm39) probably null Het
Ucn3 T G 13: 3,991,365 (GRCm39) T96P probably benign Het
Usp36 T C 11: 118,155,980 (GRCm39) E764G possibly damaging Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vmn2r57 T C 7: 41,049,710 (GRCm39) T680A probably benign Het
Vwa3a T C 7: 120,394,853 (GRCm39) I891T possibly damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zhx2 A G 15: 57,687,039 (GRCm39) I803V probably benign 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
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
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'- AAGTTCAGCCGACTTCCAG -3'
(R):5'- AAAGCACCCTCCGAGTTTTC -3'

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