Mutagenetix > Incidental Mutation

Incidental Mutation 'R8432:Nsd1'

653826

Institutional Source

Beutler Lab

Gene Symbol

Nsd1

Ensembl Gene

ENSMUSG00000021488

Gene Name

nuclear receptor-binding SET-domain protein 1

Synonyms

KMT3B

MMRRC Submission

067882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8432 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55357595-55466138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55395516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1142 (M1142R)

Ref Sequence

ENSEMBL: ENSMUSP00000097089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099490] [ENSMUST00000224973]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099490
AA Change: M1142R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: M1142R

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

possibly damaging
Transcript: ENSMUST00000224973
AA Change: M1039R

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	A	G	9: 122,197,317 (GRCm39)	Y168C	probably damaging	Het
Agbl1	A	C	7: 76,774,434 (GRCm39)	R1119S	unknown	Het
Agpat5	A	T	8: 18,896,777 (GRCm39)	N68Y	probably benign	Het
Ap4b1	G	A	3: 103,728,135 (GRCm39)	R551Q	probably benign	Het
Arhgef28	T	C	13: 98,088,091 (GRCm39)	I1122V	probably benign	Het
Arhgef40	T	A	14: 52,226,857 (GRCm39)	D300E	probably benign	Het
Atxn7	T	C	14: 14,013,635 (GRCm38)	V112A	probably benign	Het
AY358078	T	A	14: 52,059,635 (GRCm39)	L324H	unknown	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bnip5	C	T	17: 29,118,545 (GRCm39)	R629H	probably benign	Het
Cacng2	A	G	15: 77,897,522 (GRCm39)	Y96H	probably damaging	Het
Cd2ap	A	T	17: 43,109,484 (GRCm39)		probably null	Het
Cdh5	A	T	8: 104,839,698 (GRCm39)	E56D	probably damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Cpne3	A	T	4: 19,535,227 (GRCm39)	S268R	probably benign	Het
Cubn	T	A	2: 13,386,610 (GRCm39)	I1552F	probably benign	Het
Dhrs7	G	A	12: 72,711,581 (GRCm39)		probably benign	Het
Dnah7a	G	C	1: 53,657,195 (GRCm39)	I860M	possibly damaging	Het
Dync1h1	A	T	12: 110,584,576 (GRCm39)	M660L	probably benign	Het
Ecd	T	A	14: 20,370,998 (GRCm39)	T574S	probably benign	Het
Efna5	A	G	17: 62,958,017 (GRCm39)	Y80H	probably damaging	Het
Ercc5	A	T	1: 44,206,841 (GRCm39)	K585*	probably null	Het
Erich4	A	G	7: 25,314,533 (GRCm39)	S127P	probably benign	Het
Gckr	A	T	5: 31,466,447 (GRCm39)	Q474L	possibly damaging	Het
Gid8	A	G	2: 180,356,654 (GRCm39)	N97S	probably benign	Het
Gm28042	G	T	2: 119,869,077 (GRCm39)	C557F	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Gzf1	A	G	2: 148,532,115 (GRCm39)	T581A	probably benign	Het
Heatr5b	A	T	17: 79,110,930 (GRCm39)	Y973N	probably damaging	Het
Herc2	A	G	7: 55,804,860 (GRCm39)	E2296G	probably benign	Het
Hydin	A	T	8: 111,324,583 (GRCm39)	N4648I	probably benign	Het
Mlip	A	T	9: 77,098,011 (GRCm39)	D157E	possibly damaging	Het
Mrpl19	A	G	6: 81,939,136 (GRCm39)	V222A	probably damaging	Het
Myo18b	A	G	5: 112,912,378 (GRCm39)	V1896A	probably benign	Het
Myo9a	G	A	9: 59,687,548 (GRCm39)	V218M	probably damaging	Het
Nepn	A	T	10: 52,267,880 (GRCm39)	T49S	probably benign	Het
Or52e8	T	G	7: 104,625,199 (GRCm39)	T2P	probably benign	Het
Or8b40	A	G	9: 38,027,272 (GRCm39)	Y65C	probably damaging	Het
Otulinl	A	T	15: 27,664,818 (GRCm39)	M46K	possibly damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pgm2l1	A	G	7: 99,909,260 (GRCm39)	D242G	possibly damaging	Het
Pkdrej	T	G	15: 85,701,494 (GRCm39)	I1481L	probably benign	Het
Prkag1	T	C	15: 98,713,425 (GRCm39)	I87V	possibly damaging	Het
Psma1	A	T	7: 113,873,080 (GRCm39)	I74N	probably damaging	Het
Rap1gds1	T	C	3: 138,647,548 (GRCm39)	S547G	probably damaging	Het
Rbm19	T	G	5: 120,313,991 (GRCm39)	F868V	probably damaging	Het
Riok1	T	C	13: 38,221,468 (GRCm39)	V11A	probably benign	Het
Smpd3	T	A	8: 106,984,309 (GRCm39)		probably null	Het
Taar3	A	T	10: 23,826,053 (GRCm39)	I200L	probably benign	Het
Taf12	A	G	4: 132,019,228 (GRCm39)	Y139C	probably damaging	Het
Taf15	AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG	AGAAGTGG	11: 83,395,851 (GRCm39)		probably benign	Het
Tc2n	A	T	12: 101,615,363 (GRCm39)	N487K	probably benign	Het
Tex15	A	C	8: 34,066,572 (GRCm39)	I2001L	probably damaging	Het
Tmem168	A	G	6: 13,602,535 (GRCm39)	F277S	probably benign	Het
Trim67	TGCCGCCGCCGCCGC	TGCCGCCGCCGC	8: 125,520,801 (GRCm39)		probably benign	Het
Tspan1	G	T	4: 116,021,151 (GRCm39)	Q116K	probably benign	Het
Ttc24	G	A	3: 87,977,366 (GRCm39)	R325C	probably benign	Het
Ttn	C	T	2: 76,693,900 (GRCm39)	E323K		Het
Xirp2	A	T	2: 67,340,962 (GRCm39)	M1068L	probably benign	Het
Zbtb38	A	C	9: 96,568,291 (GRCm39)	M931R	possibly damaging	Het
Zfp931	A	G	2: 177,711,346 (GRCm39)	*65Q	probably null	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
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
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
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'- TGGATCAGTGAATGGCCCATC -3'
(R):5'- TTCTAAGTAGTCTTCCCGGGC -3'

Sequencing Primer
(F):5'- GGGTGGGGCTGAAGATCC -3'
(R):5'- CCTTCTGCACAGCGTCAG -3'

Posted On

2020-10-20