Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00933:Snd1'

27636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snd1

Ensembl Gene

ENSMUSG00000001424

Gene Name

staphylococcal nuclease and tudor domain containing 1

Synonyms

Tudor-SN, p100 co-activator

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL00933

Quality Score

Status

Chromosome

Chromosomal Location

28480332-28935161 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 28512985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000164915] [ENSMUST00000167201] [ENSMUST00000168362]

AlphaFold

Q78PY7

Predicted Effect

probably null
Transcript: ENSMUST00000001460

SMART Domains

Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	166	7.12e-54	SMART
SNc	193	328	8.37e-51	SMART
SNc	341	496	4.11e-59	SMART
SNc	525	660	3.82e-45	SMART
TUDOR	728	785	4.8e-19	SMART
Pfam:SNase	835	895	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164915

SMART Domains

Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	142	1.56e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167201

SMART Domains

Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	166	7.12e-54	SMART
SNc	193	328	8.37e-51	SMART
SNc	341	496	4.11e-59	SMART
SCOP:d1sty__	526	592	1e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168362

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 transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc3	T	A	13: 81,039,174 (GRCm39)		probably benign	Het
Brca2	A	G	5: 150,465,869 (GRCm39)	S1878G	probably benign	Het
Cpa6	T	C	1: 10,407,595 (GRCm39)	H314R	probably benign	Het
Ehbp1l1	A	G	19: 5,767,961 (GRCm39)	I1114T	probably benign	Het
Eml3	G	A	19: 8,913,762 (GRCm39)	W73*	probably null	Het
Fmo4	G	T	1: 162,621,592 (GRCm39)	Q540K	probably benign	Het
Fstl4	G	A	11: 53,077,588 (GRCm39)	G782R	possibly damaging	Het
Itga11	T	C	9: 62,676,587 (GRCm39)	I925T	possibly damaging	Het
Itsn2	T	G	12: 4,757,540 (GRCm39)	F1411C	probably damaging	Het
Lmna	A	T	3: 88,389,856 (GRCm39)	C590S	possibly damaging	Het
Magi3	A	G	3: 103,923,163 (GRCm39)	Y1185H	probably benign	Het
Marf1	A	G	16: 13,935,221 (GRCm39)	Y1516H	probably damaging	Het
Mast4	T	C	13: 102,871,874 (GRCm39)	D2306G	probably damaging	Het
Ncoa6	A	G	2: 155,257,317 (GRCm39)	V742A	probably damaging	Het
Nol4l	A	G	2: 153,319,856 (GRCm39)	F175S	probably damaging	Het
Or9k2b	A	T	10: 130,016,083 (GRCm39)	M222K	probably benign	Het
Orm2	T	C	4: 63,282,389 (GRCm39)		probably benign	Het
Pik3cb	T	A	9: 98,983,339 (GRCm39)	T90S	probably damaging	Het
Plekhg2	G	A	7: 28,060,114 (GRCm39)	P1072S	probably benign	Het
Rgr	A	T	14: 36,760,875 (GRCm39)	Y227*	probably null	Het
Zfp560	A	G	9: 20,260,104 (GRCm39)	S253P	probably benign	Het

Other mutations in Snd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Snd1	APN	6	28,745,174 (GRCm39)	intron	probably benign
IGL01340:Snd1	APN	6	28,883,368 (GRCm39)	missense	probably benign
IGL01892:Snd1	APN	6	28,888,123 (GRCm39)	critical splice donor site	probably null
IGL02063:Snd1	APN	6	28,526,220 (GRCm39)	unclassified	probably benign
IGL02134:Snd1	APN	6	28,880,278 (GRCm39)	missense	possibly damaging	0.81
IGL02366:Snd1	APN	6	28,707,149 (GRCm39)	intron	probably benign
PIT4677001:Snd1	UTSW	6	28,880,295 (GRCm39)	missense	probably benign	0.01
R0039:Snd1	UTSW	6	28,745,209 (GRCm39)	missense	probably damaging	1.00
R0053:Snd1	UTSW	6	28,745,334 (GRCm39)	intron	probably benign
R0053:Snd1	UTSW	6	28,745,334 (GRCm39)	intron	probably benign
R0463:Snd1	UTSW	6	28,724,955 (GRCm39)	missense	probably benign	0.00
R0576:Snd1	UTSW	6	28,886,576 (GRCm39)	missense	probably benign	0.31
R0709:Snd1	UTSW	6	28,545,469 (GRCm39)	splice site	probably benign
R0959:Snd1	UTSW	6	28,884,970 (GRCm39)	missense	probably benign	0.01
R1698:Snd1	UTSW	6	28,888,252 (GRCm39)	nonsense	probably null
R1853:Snd1	UTSW	6	28,545,563 (GRCm39)	missense	probably damaging	1.00
R2059:Snd1	UTSW	6	28,745,206 (GRCm39)	missense	probably damaging	1.00
R2497:Snd1	UTSW	6	28,888,078 (GRCm39)	missense	probably benign
R3832:Snd1	UTSW	6	28,531,403 (GRCm39)	splice site	probably benign
R3833:Snd1	UTSW	6	28,531,403 (GRCm39)	splice site	probably benign
R4643:Snd1	UTSW	6	28,880,248 (GRCm39)	missense	probably benign	0.00
R4665:Snd1	UTSW	6	28,707,053 (GRCm39)	missense	probably damaging	1.00
R4843:Snd1	UTSW	6	28,668,642 (GRCm39)	missense	probably damaging	1.00
R4884:Snd1	UTSW	6	28,526,911 (GRCm39)	missense	possibly damaging	0.94
R4959:Snd1	UTSW	6	28,884,250 (GRCm39)	nonsense	probably null
R4973:Snd1	UTSW	6	28,884,250 (GRCm39)	nonsense	probably null
R5065:Snd1	UTSW	6	28,888,239 (GRCm39)	missense	probably damaging	1.00
R5066:Snd1	UTSW	6	28,888,239 (GRCm39)	missense	probably damaging	1.00
R5067:Snd1	UTSW	6	28,888,239 (GRCm39)	missense	probably damaging	1.00
R5131:Snd1	UTSW	6	28,885,049 (GRCm39)	missense	probably damaging	0.99
R5172:Snd1	UTSW	6	28,886,615 (GRCm39)	missense	possibly damaging	0.91
R5239:Snd1	UTSW	6	28,545,524 (GRCm39)	missense	probably damaging	1.00
R5313:Snd1	UTSW	6	28,668,600 (GRCm39)	missense	probably benign	0.15
R5395:Snd1	UTSW	6	28,526,183 (GRCm39)	missense	probably damaging	0.99
R5938:Snd1	UTSW	6	28,874,858 (GRCm39)	critical splice acceptor site	probably null
R6019:Snd1	UTSW	6	28,880,233 (GRCm39)	missense	probably benign	0.00
R6248:Snd1	UTSW	6	28,520,234 (GRCm39)	nonsense	probably null
R6337:Snd1	UTSW	6	28,888,288 (GRCm39)	missense	probably damaging	1.00
R6810:Snd1	UTSW	6	28,668,609 (GRCm39)	missense	probably benign	0.23
R6932:Snd1	UTSW	6	28,626,100 (GRCm39)	missense	probably benign	0.42
R7469:Snd1	UTSW	6	28,626,126 (GRCm39)	missense	probably damaging	1.00
R7485:Snd1	UTSW	6	28,531,449 (GRCm39)	missense	probably benign	0.14
R7571:Snd1	UTSW	6	28,526,202 (GRCm39)	missense	possibly damaging	0.81
R7866:Snd1	UTSW	6	28,527,724 (GRCm39)	missense	probably damaging	1.00
R8178:Snd1	UTSW	6	28,874,975 (GRCm39)	missense	possibly damaging	0.85
R8208:Snd1	UTSW	6	28,526,054 (GRCm39)	missense	possibly damaging	0.86
R8526:Snd1	UTSW	6	28,745,253 (GRCm39)	missense	probably benign	0.00
R8848:Snd1	UTSW	6	28,874,962 (GRCm39)	missense	possibly damaging	0.72
R8854:Snd1	UTSW	6	28,526,968 (GRCm39)	missense	probably benign	0.02
R9310:Snd1	UTSW	6	28,795,936 (GRCm39)	missense	probably null	1.00
R9326:Snd1	UTSW	6	28,795,842 (GRCm39)	nonsense	probably null
R9348:Snd1	UTSW	6	28,745,206 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17