Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02665:Nsd1'

302696

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02665

Quality Score

Status

Chromosome

Chromosomal Location

55357595-55466138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55443996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1835 (Y1835H)

Ref Sequence

ENSEMBL: ENSMUSP00000097089 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099490
AA Change: Y1835H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: Y1835H

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 damaging
Transcript: ENSMUST00000224973
AA Change: Y1732H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225405

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cenpc1	T	C	5: 86,194,262 (GRCm39)	N168S	probably benign	Het
Cep295	A	G	9: 15,237,928 (GRCm39)		probably benign	Het
Defb20	A	G	2: 152,321,496 (GRCm39)	Y91C	probably damaging	Het
Dio2	T	C	12: 90,696,427 (GRCm39)	D187G	possibly damaging	Het
Fat4	G	A	3: 39,056,985 (GRCm39)	R4227Q	probably benign	Het
Fsip2	G	A	2: 82,823,407 (GRCm39)	G6380D	probably damaging	Het
Gm5916	A	T	9: 36,039,962 (GRCm39)	F9I	possibly damaging	Het
Havcr2	T	A	11: 46,370,221 (GRCm39)	V216E	probably benign	Het
Hdac7	G	A	15: 97,694,838 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,130,600 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,440,227 (GRCm39)		probably null	Het
Lcn3	G	A	2: 25,656,416 (GRCm39)	A99T	possibly damaging	Het
Lox	T	A	18: 52,658,316 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,866,742 (GRCm39)	S1000P	probably damaging	Het
Muc5ac	T	C	7: 141,344,823 (GRCm39)	F98S	possibly damaging	Het
Pnpla3	A	G	15: 84,055,406 (GRCm39)	D104G	probably benign	Het
Rab3ip	T	A	10: 116,773,453 (GRCm39)	Q120L	probably benign	Het
Ranbp6	T	A	19: 29,790,301 (GRCm39)	Q17L	possibly damaging	Het
Serpinb9g	T	C	13: 33,679,086 (GRCm39)	C319R	possibly damaging	Het
Ska3	T	C	14: 58,059,529 (GRCm39)	K99E	probably damaging	Het
Srcap	T	A	7: 127,140,075 (GRCm39)	S1330R	probably damaging	Het
Vmn2r82	T	A	10: 79,215,205 (GRCm39)	M396K	probably damaging	Het
Vmn2r87	T	G	10: 130,333,049 (GRCm39)	D67A	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
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
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

Posted On

2015-04-16