Incidental Mutation 'R6053:Nsd1'
ID 484264
Institutional Source Beutler Lab
Gene Symbol Nsd1
Ensembl Gene ENSMUSG00000021488
Gene Name nuclear receptor-binding SET-domain protein 1
Synonyms KMT3B
MMRRC Submission 044221-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 55357595-55466138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55441422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1631 (C1631F)
Ref Sequence ENSEMBL: ENSMUSP00000153677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099490] [ENSMUST00000224973]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099490
AA Change: C1734F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: C1734F

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 damaging
Transcript: ENSMUST00000224973
AA Change: C1631F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225405
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,964,666 (GRCm39) Y2158H probably damaging Het
Acap1 T G 11: 69,777,896 (GRCm39) probably null Het
Adamts4 T A 1: 171,080,284 (GRCm39) I279N possibly damaging Het
Akap3 A G 6: 126,843,496 (GRCm39) E705G probably damaging Het
Aoc1l3 A G 6: 48,965,422 (GRCm39) T477A probably benign Het
Arap3 C A 18: 38,123,824 (GRCm39) L398F probably damaging Het
Catsperg1 A T 7: 28,910,239 (GRCm39) L34* probably null Het
Ccdc171 T G 4: 83,713,456 (GRCm39) L1165R probably damaging Het
Ccdc3 G A 2: 5,233,838 (GRCm39) V221I probably benign Het
Cdc42ep4 T A 11: 113,619,812 (GRCm39) H193L probably damaging Het
Clcn1 G A 6: 42,277,208 (GRCm39) W361* probably null Het
Cntn2 T C 1: 132,446,090 (GRCm39) N832S probably benign Het
Col5a1 A T 2: 27,904,389 (GRCm39) probably benign Het
Cplane1 A G 15: 8,217,945 (GRCm39) D785G probably benign Het
Cspg4b C A 13: 113,457,260 (GRCm39) P1102Q possibly damaging Het
Ctc1 T A 11: 68,918,727 (GRCm39) M550K probably benign Het
Dennd5a T C 7: 109,532,952 (GRCm39) R273G probably damaging Het
Dnajb7 T C 15: 81,291,500 (GRCm39) E279G probably benign Het
Dop1a G T 9: 86,397,347 (GRCm39) G882W possibly damaging Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Ect2l A T 10: 18,017,592 (GRCm39) L629Q probably damaging Het
Enpp1 T C 10: 24,533,024 (GRCm39) D497G possibly damaging Het
Ep400 T C 5: 110,903,661 (GRCm39) M313V probably benign Het
Epn2 T C 11: 61,437,323 (GRCm39) Y83C probably damaging Het
Ercc3 T G 18: 32,379,807 (GRCm39) V338G probably damaging Het
Fkbp5 T C 17: 28,647,440 (GRCm39) I132V probably benign Het
Fn1 A T 1: 71,638,449 (GRCm39) Y1846N probably damaging Het
Foxg1 T C 12: 49,432,161 (GRCm39) L298P possibly damaging Het
Foxo3 G A 10: 42,073,210 (GRCm39) P436S probably benign Het
Gbx2 T C 1: 89,858,159 (GRCm39) T107A probably benign Het
Gli1 G T 10: 127,170,184 (GRCm39) H324N probably damaging Het
Gnas T A 2: 174,141,645 (GRCm39) S605T possibly damaging Het
Ica1 C T 6: 8,630,783 (GRCm39) A431T probably benign Het
Il10ra C T 9: 45,167,601 (GRCm39) D319N probably damaging Het
Jmjd4 T A 11: 59,344,870 (GRCm39) H274Q probably damaging Het
Krt28 C A 11: 99,262,027 (GRCm39) L294F probably benign Het
Ltbp3 C A 19: 5,802,122 (GRCm39) T766K probably damaging Het
Man2b2 C A 5: 36,970,382 (GRCm39) M841I probably benign Het
Mmp14 T A 14: 54,673,347 (GRCm39) M85K probably benign Het
Mmp1b T A 9: 7,385,031 (GRCm39) D206V probably benign Het
Muc5b T C 7: 141,418,445 (GRCm39) F3797S probably benign Het
Mug1 A G 6: 121,842,697 (GRCm39) D561G probably benign Het
Myo18a T A 11: 77,709,002 (GRCm39) H471Q probably damaging Het
Nfkb2 A G 19: 46,300,251 (GRCm39) E873G probably damaging Het
Ngfr G A 11: 95,461,832 (GRCm39) H361Y possibly damaging Het
Nnt T C 13: 119,494,045 (GRCm39) T679A possibly damaging Het
Notch1 A T 2: 26,362,924 (GRCm39) N947K probably benign Het
Nrg4 A T 9: 55,143,774 (GRCm39) V94D probably benign Het
Nutm1 T C 2: 112,079,435 (GRCm39) T827A probably benign Het
Or2t47 T A 11: 58,442,892 (GRCm39) M58L possibly damaging Het
Or4c114 T C 2: 88,904,898 (GRCm39) D179G probably damaging Het
Or5h19 A T 16: 58,856,351 (GRCm39) Y250N probably damaging Het
Or6p1 C A 1: 174,258,135 (GRCm39) S47* probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Orai3 C T 7: 127,373,050 (GRCm39) P184S probably benign Het
Paqr3 A T 5: 97,259,137 (GRCm39) S56T probably benign Het
Pard6b C T 2: 167,940,973 (GRCm39) T320M possibly damaging Het
Pgs1 T C 11: 117,892,535 (GRCm39) S166P probably damaging Het
Plaa T C 4: 94,478,121 (GRCm39) T114A probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plin4 A T 17: 56,415,618 (GRCm39) D73E probably benign Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Rbak A C 5: 143,160,437 (GRCm39) Y205* probably null Het
Rgs12 T C 5: 35,123,296 (GRCm39) F360L probably benign Het
Rgs22 A T 15: 36,100,153 (GRCm39) D187E probably benign Het
Sec24d C T 3: 123,072,871 (GRCm39) Q66* probably null Het
Sh2d5 T A 4: 137,982,873 (GRCm39) M85K probably damaging Het
Sos1 A G 17: 80,722,463 (GRCm39) V861A possibly damaging Het
Stk11ip T A 1: 75,510,899 (GRCm39) probably null Het
Tmem26 G A 10: 68,584,314 (GRCm39) E127K probably benign Het
Tmem41a T G 16: 21,753,739 (GRCm39) T211P possibly damaging Het
Tmem69 T A 4: 116,410,581 (GRCm39) M130L possibly damaging Het
Trak2 C A 1: 58,943,228 (GRCm39) R726L possibly damaging Het
Vmn1r231 A G 17: 21,110,081 (GRCm39) I278T probably damaging Het
Vwf G A 6: 125,577,628 (GRCm39) V490I probably benign Het
Wdr33 C T 18: 32,011,116 (GRCm39) T255I possibly damaging Het
Ylpm1 G T 12: 85,043,277 (GRCm39) W5L possibly damaging Het
Zfp169 A T 13: 48,652,334 (GRCm39) W28R probably damaging 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
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'- CACAAAAGTCCTTCTGCACG -3'
(R):5'- GGGGATTACTATGCCGAAACATG -3'

Sequencing Primer
(F):5'- TGCACGTTTTACTATGTAAGCC -3'
(R):5'- TTACTATGCCGAAACATGAAGAGC -3'
Posted On 2017-07-14