Mutagenetix > Incidental Mutation

Incidental Mutation 'R2359:Nsd1'

247086

Institutional Source

Beutler Lab

Gene Symbol

Nsd1

Ensembl Gene

ENSMUSG00000021488

Gene Name

nuclear receptor-binding SET-domain protein 1

Synonyms

KMT3B

MMRRC Submission

040341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55357595-55466138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55361524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 164 (D164G)

Ref Sequence

ENSEMBL: ENSMUSP00000153677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099490] [ENSMUST00000224156] [ENSMUST00000224693] [ENSMUST00000224918] [ENSMUST00000224973] [ENSMUST00000225169]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099490
AA Change: D164G

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: D164G

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

noncoding transcript
Transcript: ENSMUST00000224338

Predicted Effect

probably benign
Transcript: ENSMUST00000224693

Predicted Effect

probably benign
Transcript: ENSMUST00000224918

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224973
AA Change: D164G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000225169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225194

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

95% (41/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,133,984 (GRCm39)	E484G	possibly damaging	Het
Akr1c20	C	T	13: 4,573,276 (GRCm39)	G13D	probably damaging	Het
Alkbh3	T	C	2: 93,838,458 (GRCm39)	T38A	probably benign	Het
Anxa9	A	C	3: 95,210,062 (GRCm39)	L99R	probably damaging	Het
Arfgef2	A	T	2: 166,702,539 (GRCm39)	Y826F	probably damaging	Het
Arid2	G	T	15: 96,259,759 (GRCm39)	L306F	probably damaging	Het
Ccdc141	C	T	2: 77,000,746 (GRCm39)	V29M	probably damaging	Het
Cd55b	A	G	1: 130,345,858 (GRCm39)	S187P	probably damaging	Het
Cep63	A	C	9: 102,471,763 (GRCm39)	L526V	possibly damaging	Het
Chtf8	G	T	8: 107,612,048 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,631,003 (GRCm39)	S286C	probably damaging	Het
Cpsf1	A	G	15: 76,481,873 (GRCm39)	V1080A	probably benign	Het
Csf2rb2	C	T	15: 78,176,976 (GRCm39)	V165I	probably benign	Het
Cyp2c40	A	T	19: 39,766,398 (GRCm39)	V399E	probably damaging	Het
Dnmt3a	T	C	12: 3,951,599 (GRCm39)	S659P	probably damaging	Het
Efcab3	T	C	11: 104,630,106 (GRCm39)	S967P	possibly damaging	Het
Efr3b	G	A	12: 4,030,136 (GRCm39)		probably benign	Het
Epha8	A	G	4: 136,673,343 (GRCm39)	I147T	probably damaging	Het
Fbxo48	G	A	11: 16,903,602 (GRCm39)	W76*	probably null	Het
Ggt6	A	T	11: 72,328,377 (GRCm39)	L254F	possibly damaging	Het
Gm4204	T	A	1: 135,159,927 (GRCm39)		noncoding transcript	Het
Golph3l	A	G	3: 95,499,275 (GRCm39)		probably null	Het
Gtf2h3	A	G	5: 124,728,939 (GRCm39)	K166R	probably damaging	Het
Hsp90aa1	A	G	12: 110,661,003 (GRCm39)		probably null	Het
Hyi	A	G	4: 118,217,538 (GRCm39)	R79G	probably benign	Het
Igbp1b	G	A	6: 138,634,713 (GRCm39)	P244S	probably damaging	Het
Ipo8	G	A	6: 148,717,975 (GRCm39)		probably benign	Het
Larp4b	C	A	13: 9,208,199 (GRCm39)	T391K	probably damaging	Het
Lrba	T	C	3: 86,256,057 (GRCm39)	V1133A	probably benign	Het
Med13	C	T	11: 86,181,861 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,156,379 (GRCm39)		probably benign	Het
Neurl1b	T	C	17: 26,660,569 (GRCm39)	F299L	probably benign	Het
Nosip	G	A	7: 44,723,450 (GRCm39)	A39T	possibly damaging	Het
Ntn1	G	A	11: 68,276,438 (GRCm39)	T170M	probably damaging	Het
Polrmt	A	T	10: 79,572,396 (GRCm39)	L1079Q	probably damaging	Het
Prxl2c	A	T	13: 64,460,465 (GRCm39)	C12S	probably benign	Het
Rab30	A	G	7: 92,485,005 (GRCm39)	D129G	possibly damaging	Het
Rwdd2b	C	T	16: 87,233,809 (GRCm39)	S97N	probably benign	Het
Slitrk3	T	G	3: 72,956,678 (GRCm39)	D698A	possibly damaging	Het
Smarcd2	T	C	11: 106,157,990 (GRCm39)	M93V	probably benign	Het
Tmprss4	A	G	9: 45,097,130 (GRCm39)	V45A	probably benign	Het
Vmn1r22	A	T	6: 57,877,974 (GRCm39)	M1K	probably null	Het
Vps13a	A	G	19: 16,630,043 (GRCm39)		probably benign	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
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'- CAGAATCCTTTCAAGACCCTGC -3'
(R):5'- TTTGAGGAGCTAACGGCAAG -3'

Sequencing Primer
(F):5'- AGTGATTCAAGAGCTCAGTCGCC -3'
(R):5'- GGCAAGAATGGCCGTTCC -3'

Posted On

2014-10-30