Mutagenetix > Incidental Mutation

Incidental Mutation 'R4073:Nsd1'

316412

Institutional Source

Beutler Lab

Gene Symbol

Nsd1

Ensembl Gene

ENSMUSG00000021488

Gene Name

nuclear receptor-binding SET-domain protein 1

Synonyms

KMT3B

MMRRC Submission

041621-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55357595-55466138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55395541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1047 (H1047Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153677 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099490
AA Change: H1150Q

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: H1150Q

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: ENSMUST00000224973
AA Change: H1047Q

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (67/70)

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
4932415M13Rik	C	T	17: 54,031,494 (GRCm39)		noncoding transcript	Het
Alox12	T	C	11: 70,138,136 (GRCm39)	N400D	probably damaging	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Cbs	C	T	17: 31,851,979 (GRCm39)	C8Y	possibly damaging	Het
Ccdc103	C	T	11: 102,774,925 (GRCm39)	R175W	probably damaging	Het
Clasp1	T	C	1: 118,431,578 (GRCm39)	F171L	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dock7	A	T	4: 98,896,296 (GRCm39)	S768R	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Ehhadh	T	C	16: 21,585,257 (GRCm39)	D208G	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Erbin	T	C	13: 103,996,619 (GRCm39)	E211G	probably damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Gpd2	A	G	2: 57,180,025 (GRCm39)	R91G	probably damaging	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Il23r	A	G	6: 67,463,106 (GRCm39)	I129T	probably damaging	Het
Jph4	T	C	14: 55,352,497 (GRCm39)	S79G	probably benign	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Lrrc71	G	A	3: 87,652,569 (GRCm39)	T185I	probably benign	Het
Mroh1	A	G	15: 76,292,185 (GRCm39)	D219G	probably benign	Het
Mtor	T	A	4: 148,633,832 (GRCm39)	S2342T	probably damaging	Het
Nf2	T	C	11: 4,798,958 (GRCm39)	S10G	probably benign	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nrm	T	A	17: 36,172,424 (GRCm39)		probably benign	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or2t47	T	C	11: 58,442,888 (GRCm39)	Y59C	probably damaging	Het
Or4k5	A	G	14: 50,385,500 (GRCm39)	V277A	possibly damaging	Het
Or4x13	T	C	2: 90,231,337 (GRCm39)	F111L	probably benign	Het
Or5b3	G	A	19: 13,388,299 (GRCm39)	R122H	possibly damaging	Het
Or6aa1	T	A	7: 86,044,155 (GRCm39)	I184F	probably damaging	Het
Or8b38	T	C	9: 37,973,165 (GRCm39)	L183P	probably damaging	Het
Pbx3	T	C	2: 34,114,424 (GRCm39)	Y112C	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Phactr1	ACTT	A	13: 43,213,245 (GRCm39)		probably benign	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptgs1	C	T	2: 36,127,788 (GRCm39)	R116C	probably damaging	Het
Rab39b	T	C	X: 74,618,658 (GRCm39)		probably benign	Het
Rpp25	T	C	9: 57,411,592 (GRCm39)	S25P	probably benign	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Sbk3	G	T	7: 4,973,501 (GRCm39)	A41D	probably damaging	Het
Slc24a3	T	A	2: 145,455,636 (GRCm39)		probably benign	Het
Slc28a3	T	C	13: 58,707,104 (GRCm39)	I565V	probably benign	Het
Slc35a3	T	C	3: 116,468,887 (GRCm39)	T275A	probably benign	Het
Spink12	A	G	18: 44,237,731 (GRCm39)	N3S	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Taf2	A	G	15: 54,915,633 (GRCm39)	L431P	probably damaging	Het
Tas2r131	A	T	6: 132,934,802 (GRCm39)	Y2*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Trpv1	T	C	11: 73,141,606 (GRCm39)	V175A	probably damaging	Het
Usp21	T	C	1: 171,109,746 (GRCm39)		probably benign	Het
Vmn1r25	A	G	6: 57,955,572 (GRCm39)	V239A	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfhx4	G	T	3: 5,464,384 (GRCm39)	C1514F	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
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
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'- GGATCAGTGAATGGCCCATC -3'
(R):5'- GTTCTAAGTAGTCTTCCCGGGC -3'

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

Posted On

2015-05-15