Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01340:Snd1'

74793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snd1

Ensembl Gene

ENSMUSG00000001424

Gene Name

staphylococcal nuclease and tudor domain containing 1

Synonyms

p100 co-activator, Tudor-SN

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL01340

Quality Score

Status

Chromosome

Chromosomal Location

28475139-28935162 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28883369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 741 (V741E)

Ref Sequence

ENSEMBL: ENSMUSP00000001460 (fasta)

Gene Model

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

AlphaFold

Q78PY7

Predicted Effect

probably benign
Transcript: ENSMUST00000001460
AA Change: V741E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: V741E

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

noncoding transcript
Transcript: ENSMUST00000165151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166136

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000169579

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	C	4: 42,971,984	E439A	possibly damaging	Het
Abca9	T	A	11: 110,130,627	I1086L	probably benign	Het
Adam17	A	T	12: 21,330,057	C630*	probably null	Het
Adgrg5	T	C	8: 94,937,629	L289P	probably damaging	Het
Aplp1	G	A	7: 30,444,418	T64I	probably damaging	Het
Bdh1	T	A	16: 31,456,843	W261R	probably damaging	Het
Cadm2	A	T	16: 66,784,785	I202N	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cfap221	T	A	1: 119,953,620	I371F	possibly damaging	Het
Cfap44	A	G	16: 44,404,130	Y67C	probably damaging	Het
Cilp	T	C	9: 65,275,974	S387P	probably damaging	Het
Cnot1	T	C	8: 95,760,537	D598G	probably damaging	Het
Col5a1	T	C	2: 27,960,451	L520P	unknown	Het
Cpvl	A	T	6: 53,896,451	Y433*	probably null	Het
Cxcl1	G	T	5: 90,891,575	C59F	probably damaging	Het
Cyth3	T	A	5: 143,684,435	L33*	probably null	Het
Dnah2	T	C	11: 69,493,184	K1069E	probably damaging	Het
Drosha	T	A	15: 12,834,023		probably benign	Het
Fam83h	T	A	15: 76,004,036	D484V	probably damaging	Het
Igsf3	C	A	3: 101,439,679	Y663*	probably null	Het
Kmt5c	C	T	7: 4,742,141	R44*	probably null	Het
Kxd1	T	C	8: 70,515,443		probably null	Het
Lars	A	G	18: 42,202,577	V1158A	probably benign	Het
Lmf2	A	G	15: 89,352,872	F413S	probably damaging	Het
Mc4r	C	T	18: 66,859,158	A295T	probably benign	Het
Mrc1	T	C	2: 14,310,084		probably null	Het
Mtmr7	T	C	8: 40,597,422	Y110C	probably damaging	Het
Myd88	A	C	9: 119,337,352		probably benign	Het
Ndc1	T	C	4: 107,374,147	V95A	probably damaging	Het
Ntrk1	T	A	3: 87,788,714	E163V	possibly damaging	Het
Olfr1208	T	C	2: 88,896,977	T207A	probably damaging	Het
Pappa	A	T	4: 65,323,872	D1491V	possibly damaging	Het
Phc3	T	A	3: 30,929,884	I673F	possibly damaging	Het
Pkhd1	A	T	1: 20,522,977	N1637K	probably benign	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rgma	T	C	7: 73,417,330	F111S	probably damaging	Het
Slco1a6	A	T	6: 142,109,383	N278K	possibly damaging	Het
Slfn9	A	T	11: 82,981,751	F720I	probably benign	Het
Snx6	C	T	12: 54,754,309	R185Q	probably damaging	Het
Telo2	G	A	17: 25,100,129		probably benign	Het
Wdr91	A	G	6: 34,904,579	S278P	probably benign	Het
Xab2	A	T	8: 3,614,381	D277E	probably damaging	Het
Zbbx	T	C	3: 75,105,650	E158G	possibly damaging	Het

Other mutations in Snd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Snd1	APN	6	28512986	critical splice donor site	probably null
IGL00940:Snd1	APN	6	28745175	intron	probably benign
IGL01892:Snd1	APN	6	28888124	critical splice donor site	probably null
IGL02063:Snd1	APN	6	28526221	unclassified	probably benign
IGL02134:Snd1	APN	6	28880279	missense	possibly damaging	0.81
IGL02366:Snd1	APN	6	28707150	intron	probably benign
PIT4677001:Snd1	UTSW	6	28880296	missense	probably benign	0.01
R0039:Snd1	UTSW	6	28745210	missense	probably damaging	1.00
R0053:Snd1	UTSW	6	28745335	intron	probably benign
R0053:Snd1	UTSW	6	28745335	intron	probably benign
R0463:Snd1	UTSW	6	28724956	missense	probably benign	0.00
R0576:Snd1	UTSW	6	28886577	missense	probably benign	0.31
R0709:Snd1	UTSW	6	28545470	splice site	probably benign
R0959:Snd1	UTSW	6	28884971	missense	probably benign	0.01
R1698:Snd1	UTSW	6	28888253	nonsense	probably null
R1853:Snd1	UTSW	6	28545564	missense	probably damaging	1.00
R2059:Snd1	UTSW	6	28745207	missense	probably damaging	1.00
R2497:Snd1	UTSW	6	28888079	missense	probably benign
R3832:Snd1	UTSW	6	28531404	splice site	probably benign
R3833:Snd1	UTSW	6	28531404	splice site	probably benign
R4643:Snd1	UTSW	6	28880249	missense	probably benign	0.00
R4665:Snd1	UTSW	6	28707054	missense	probably damaging	1.00
R4843:Snd1	UTSW	6	28668643	missense	probably damaging	1.00
R4884:Snd1	UTSW	6	28526912	missense	possibly damaging	0.94
R4959:Snd1	UTSW	6	28884251	nonsense	probably null
R4973:Snd1	UTSW	6	28884251	nonsense	probably null
R5065:Snd1	UTSW	6	28888240	missense	probably damaging	1.00
R5066:Snd1	UTSW	6	28888240	missense	probably damaging	1.00
R5067:Snd1	UTSW	6	28888240	missense	probably damaging	1.00
R5131:Snd1	UTSW	6	28885050	missense	probably damaging	0.99
R5172:Snd1	UTSW	6	28886616	missense	possibly damaging	0.91
R5239:Snd1	UTSW	6	28545525	missense	probably damaging	1.00
R5313:Snd1	UTSW	6	28668601	missense	probably benign	0.15
R5395:Snd1	UTSW	6	28526184	missense	probably damaging	0.99
R5938:Snd1	UTSW	6	28874859	critical splice acceptor site	probably null
R6019:Snd1	UTSW	6	28880234	missense	probably benign	0.00
R6248:Snd1	UTSW	6	28520235	nonsense	probably null
R6337:Snd1	UTSW	6	28888289	missense	probably damaging	1.00
R6810:Snd1	UTSW	6	28668610	missense	probably benign	0.23
R6932:Snd1	UTSW	6	28626101	missense	probably benign	0.42
R7469:Snd1	UTSW	6	28626127	missense	probably damaging	1.00
R7485:Snd1	UTSW	6	28531450	missense	probably benign	0.14
R7571:Snd1	UTSW	6	28526203	missense	possibly damaging	0.81
R7866:Snd1	UTSW	6	28527725	missense	probably damaging	1.00
R8178:Snd1	UTSW	6	28874976	missense	possibly damaging	0.85
R8208:Snd1	UTSW	6	28526055	missense	possibly damaging	0.86
R8526:Snd1	UTSW	6	28745254	missense	probably benign	0.00
R8848:Snd1	UTSW	6	28874963	missense	possibly damaging	0.72
R8854:Snd1	UTSW	6	28526969	missense	probably benign	0.02
R9310:Snd1	UTSW	6	28795937	missense	probably null	1.00
R9326:Snd1	UTSW	6	28795843	nonsense	probably null
R9348:Snd1	UTSW	6	28745207	missense	probably damaging	1.00

Posted On

2013-10-07