Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Nsd1'

554881

Institutional Source

Beutler Lab

Gene Symbol

Nsd1

Ensembl Gene

ENSMUSG00000021488

Gene Name

nuclear receptor-binding SET-domain protein 1

Synonyms

KMT3B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4480001 (G1)

Quality Score

190.009

Status

Not validated

Chromosome

Chromosomal Location

55357595-55466138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55361731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 233 (Q233R)

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 benign
Transcript: ENSMUST00000099490
AA Change: Q233R

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: Q233R

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000224693

Predicted Effect

probably benign
Transcript: ENSMUST00000224918

Predicted Effect

probably benign
Transcript: ENSMUST00000224973
AA Change: Q233R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000225169

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	G	A	19: 4,917,605 (GRCm39)	Q413*	probably null	Het
Ahnak2	C	T	12: 112,740,358 (GRCm39)	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,210,484 (GRCm39)	E521G	probably damaging	Het
Baiap2	A	G	11: 119,887,913 (GRCm39)	T356A	probably benign	Het
Baz1b	G	A	5: 135,246,819 (GRCm39)	R756H	probably damaging	Het
Celsr1	G	A	15: 85,916,615 (GRCm39)	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,412 (GRCm39)	P196S	probably damaging	Het
Cln5	T	A	14: 103,309,214 (GRCm39)	Y89*	probably null	Het
Cntnap3	A	G	13: 64,905,024 (GRCm39)	F919S	probably damaging	Het
Cntrl	C	T	2: 35,045,440 (GRCm39)	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,203,592 (GRCm39)	S1037P	probably benign	Het
Col17a1	A	T	19: 47,659,813 (GRCm39)	S380T	probably benign	Het
Cyrib	G	A	15: 63,828,490 (GRCm39)	T11I	probably benign	Het
Dagla	A	T	19: 10,238,022 (GRCm39)	S323T	probably benign	Het
Dicer1	G	T	12: 104,662,803 (GRCm39)	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,078,863 (GRCm39)	I2367V	probably benign	Het
Emc1	T	C	4: 139,086,588 (GRCm39)	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Erbb4	A	T	1: 68,114,702 (GRCm39)	M914K	probably damaging	Het
Eva1a	A	G	6: 82,068,784 (GRCm39)	E37G	probably damaging	Het
Fyco1	G	T	9: 123,657,715 (GRCm39)	Y820*	probably null	Het
Gipr	T	C	7: 18,896,859 (GRCm39)	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,536,181 (GRCm39)	V148A	probably damaging	Het
Gpn1	T	C	5: 31,654,685 (GRCm39)	V79A	probably damaging	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,772,896 (GRCm39)	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,286,858 (GRCm39)	T579I	probably benign	Het
Kif15	A	T	9: 122,840,608 (GRCm39)	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,801,254 (GRCm39)	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,508,538 (GRCm39)	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,469,103 (GRCm39)	T314S	possibly damaging	Het
Or11g1	T	C	14: 50,651,372 (GRCm39)	F124L	probably benign	Het
Or5w17	T	C	2: 87,584,127 (GRCm39)	D70G	possibly damaging	Het
Paqr5	T	A	9: 61,863,438 (GRCm39)	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560 (GRCm39)	H379Y	unknown	Het
Phtf2	A	T	5: 21,018,242 (GRCm39)	I33N	probably damaging	Het
Plcb2	T	C	2: 118,553,977 (GRCm39)	M115V	probably benign	Het
Ppp2r3d	A	G	9: 101,003,576 (GRCm39)	Y431H	possibly damaging	Het
Prph2	GT	G	17: 47,222,039 (GRCm39)		probably null	Het
Psmd1	C	T	1: 86,055,960 (GRCm39)	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,247,340 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,977 (GRCm39)	D770G	possibly damaging	Het
Serac1	A	G	17: 6,101,087 (GRCm39)	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,987,257 (GRCm39)		probably null	Het
Sox6	T	C	7: 115,196,744 (GRCm39)	I295M	probably benign	Het
Spata31h1	T	C	10: 82,119,586 (GRCm39)	M4475V	probably benign	Het
Sulf1	T	A	1: 12,929,637 (GRCm39)	D301E	probably benign	Het
Tas2r117	G	A	6: 132,780,014 (GRCm39)	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,725,561 (GRCm39)	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955 (GRCm39)	I320V	probably benign	Het
Tjp3	C	A	10: 81,115,091 (GRCm39)	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,400,460 (GRCm39)	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,071 (GRCm39)	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,348,802 (GRCm39)	Y138F	probably benign	Het
Utp4	T	C	8: 107,632,817 (GRCm39)	S267P	probably benign	Het
Wnk1	A	T	6: 119,940,328 (GRCm39)	L803*	probably null	Het
Zbbx	T	A	3: 75,043,794 (GRCm39)	D35V	probably damaging	Het
Zscan12	T	G	13: 21,552,744 (GRCm39)	N189K	possibly damaging	Het

Other mutations in Nsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TACTGGTGTGGACGATGCAG -3'
(R):5'- TCCTAATGGACTGGGACTGG -3'

Sequencing Primer
(F):5'- CAGATGTAGATTCTGAAATGGACCC -3'
(R):5'- CTGGAGTCTGGATCATCCTGAAAAG -3'

Posted On

2019-06-07