Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:Nsd1'

259114

Institutional Source

Beutler Lab

Gene Symbol

Nsd1

Ensembl Gene

ENSMUSG00000021488

Gene Name

nuclear receptor-binding SET-domain protein 1

Synonyms

KMT3B

MMRRC Submission

040619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55357595-55466138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55460701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 2309 (H2309Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153677 (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: H2412Q

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: H2412Q

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: H2309Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccm2	G	A	11: 6,520,090 (GRCm39)	V53I	probably benign	Het
Cd3e	G	T	9: 44,913,608 (GRCm39)	C42*	probably null	Het
Cd4	A	T	6: 124,844,633 (GRCm39)	I384N	probably benign	Het
Ceacam11	T	A	7: 17,707,379 (GRCm39)	F54L	probably benign	Het
Cfap46	A	G	7: 139,197,506 (GRCm39)	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,369,271 (GRCm39)	S461P	probably damaging	Het
Dlat	T	C	9: 50,549,331 (GRCm39)	T518A	possibly damaging	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Fam181a	T	G	12: 103,282,348 (GRCm39)	C84W	possibly damaging	Het
Gask1a	C	T	9: 121,793,935 (GRCm39)	P30S	possibly damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,674,279 (GRCm39)	R329G	probably benign	Het
Klrb1f	A	T	6: 129,031,306 (GRCm39)	I168L	possibly damaging	Het
Lama4	A	T	10: 38,973,175 (GRCm39)	I1581F	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lyzl4	T	C	9: 121,413,233 (GRCm39)	D65G	probably benign	Het
Med29	A	G	7: 28,092,046 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,473 (GRCm39)	D574E	possibly damaging	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Nlrp9a	A	T	7: 26,270,810 (GRCm39)	K892*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Optn	T	C	2: 5,039,014 (GRCm39)	S370G	probably damaging	Het
Pbrm1	T	C	14: 30,754,432 (GRCm39)	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,453,032 (GRCm39)		probably null	Het
Rpn1	A	G	6: 88,080,396 (GRCm39)	K565R	probably benign	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr1	C	T	7: 28,769,075 (GRCm39)		probably null	Het
Scai	C	T	2: 39,040,326 (GRCm39)		probably benign	Het
Scap	C	G	9: 110,208,650 (GRCm39)	P564A	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,613,847 (GRCm39)	Y226H	probably benign	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Sned1	G	A	1: 93,186,725 (GRCm39)	R180Q	probably benign	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
St8sia3	T	C	18: 64,402,886 (GRCm39)	F175S	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Syngap1	T	A	17: 27,176,067 (GRCm39)	Y118*	probably null	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba3	G	T	6: 97,163,201 (GRCm39)	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,296,650 (GRCm39)	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,819,239 (GRCm39)	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably 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
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
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'- TGCCACTGGAAAGACCTCTAAG -3'
(R):5'- TCTTCTCATCAGCCTGTGGG -3'

Sequencing Primer
(F):5'- CTCTAAGAATGACTGACTCCAGG -3'
(R):5'- ACTTCCTGAGGAGAAGCAGCC -3'

Posted On

2015-01-23