Mutagenetix > Incidental Mutation

Incidental Mutation 'R0463:Snd1'

41476

Institutional Source

Beutler Lab

Gene Symbol

Snd1

Ensembl Gene

ENSMUSG00000001424

Gene Name

staphylococcal nuclease and tudor domain containing 1

Synonyms

Tudor-SN, p100 co-activator

MMRRC Submission

038663-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28480332-28935161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28724955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 501 (I501T)

Ref Sequence

ENSEMBL: ENSMUSP00000001460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000164915] [ENSMUST00000167201] [ENSMUST00000171353]

AlphaFold

Q78PY7

Predicted Effect

probably benign
Transcript: ENSMUST00000001460
AA Change: I501T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: I501T

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 benign
Transcript: ENSMUST00000167201
AA Change: I501T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
AA Change: I501T

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: ENSMUST00000169321

Predicted Effect

probably benign
Transcript: ENSMUST00000171353

SMART Domains

Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939

Domain	Start	End	E-Value	Type
low complexity region	29	39	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171532

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,926 (GRCm39)		probably benign	Het
Abcd2	C	T	15: 91,043,327 (GRCm39)	M620I	probably benign	Het
Ada	T	A	2: 163,572,271 (GRCm39)	I243F	probably benign	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Adarb2	A	T	13: 8,253,224 (GRCm39)		probably benign	Het
Adk	A	C	14: 21,473,604 (GRCm39)	Q287P	probably benign	Het
Ahnak	A	G	19: 8,986,771 (GRCm39)		probably benign	Het
Aoc3	C	T	11: 101,222,432 (GRCm39)	R223W	probably damaging	Het
Aqp11	T	C	7: 97,378,228 (GRCm39)	D229G	probably benign	Het
Arhgap28	A	G	17: 68,203,220 (GRCm39)	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,303,854 (GRCm39)	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,563,191 (GRCm39)	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Catsperd	A	G	17: 56,966,554 (GRCm39)	D508G	probably damaging	Het
Cfap54	A	G	10: 92,710,805 (GRCm39)		probably null	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chga	A	T	12: 102,529,210 (GRCm39)	R396*	probably null	Het
Cntnap3	T	C	13: 64,926,690 (GRCm39)	E560G	probably damaging	Het
Csmd1	T	C	8: 15,971,759 (GRCm39)	T3024A	probably damaging	Het
Csrnp1	CCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTC	9: 119,801,841 (GRCm39)		probably benign	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah2	A	T	11: 69,313,952 (GRCm39)	M4140K	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Eftud2	A	T	11: 102,755,597 (GRCm39)	D203E	probably damaging	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Faf1	C	T	4: 109,748,138 (GRCm39)	A481V	probably benign	Het
Fat2	A	T	11: 55,153,655 (GRCm39)	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,719,431 (GRCm39)	A76E	probably benign	Het
Galnt1	A	T	18: 24,387,582 (GRCm39)	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Grk1	T	C	8: 13,459,279 (GRCm39)	Y277H	probably damaging	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Ier3	T	C	17: 36,133,000 (GRCm39)	I94T	possibly damaging	Het
Il11	T	C	7: 4,779,023 (GRCm39)	T36A	probably damaging	Het
Il5ra	A	T	6: 106,708,851 (GRCm39)	D296E	probably damaging	Het
Itk	A	T	11: 46,222,816 (GRCm39)	V551E	probably damaging	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Kif5a	A	T	10: 127,071,521 (GRCm39)	S776T	probably benign	Het
Klrb1c	T	C	6: 128,757,366 (GRCm39)	E233G	probably benign	Het
Kpna7	T	C	5: 144,944,804 (GRCm39)	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lhx8	A	T	3: 154,033,808 (GRCm39)		probably null	Het
Magel2	T	A	7: 62,027,778 (GRCm39)	H227Q	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mapkbp1	T	A	2: 119,853,632 (GRCm39)	M1152K	probably benign	Het
Mcoln3	T	A	3: 145,846,331 (GRCm39)	L547*	probably null	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Myom2	T	C	8: 15,154,123 (GRCm39)	V687A	probably benign	Het
Nav1	C	A	1: 135,379,945 (GRCm39)	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Nfam1	T	C	15: 82,885,684 (GRCm39)	T223A	probably damaging	Het
Nrcam	T	A	12: 44,598,124 (GRCm39)	V371E	probably damaging	Het
Nup210l	A	G	3: 90,087,518 (GRCm39)	Q1097R	probably null	Het
Obox5	T	A	7: 15,491,571 (GRCm39)	M37K	probably damaging	Het
Obscn	A	T	11: 58,952,356 (GRCm39)	N4270K	probably benign	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Or5ak25	T	A	2: 85,268,630 (GRCm39)	S291C	probably damaging	Het
Or6c1	A	G	10: 129,517,708 (GRCm39)	M300T	probably benign	Het
Or8c15	G	A	9: 38,120,360 (GRCm39)	A2T	probably benign	Het
Or8k16	T	C	2: 85,520,183 (GRCm39)	S137P	possibly damaging	Het
Patj	G	A	4: 98,562,545 (GRCm39)	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,465,741 (GRCm39)	E43K	probably damaging	Het
Ptch1	C	T	13: 63,668,121 (GRCm39)	V939I	probably damaging	Het
Rgs22	C	A	15: 36,093,084 (GRCm39)	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Ryr3	A	T	2: 112,492,046 (GRCm39)	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,506,084 (GRCm39)	G1602R	probably benign	Het
Sftpc	A	T	14: 70,760,110 (GRCm39)	V49E	probably damaging	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slco4c1	A	C	1: 96,795,645 (GRCm39)	S138A	possibly damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,035,894 (GRCm39)	G130E	probably benign	Het
Tdrd6	T	A	17: 43,936,452 (GRCm39)	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,242,778 (GRCm39)	D243G	probably damaging	Het
Tet2	A	G	3: 133,192,427 (GRCm39)	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,066,072 (GRCm39)	N201S	probably benign	Het
Trdn	A	G	10: 33,342,417 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,311,523 (GRCm39)	E259G	possibly damaging	Het
Trpm1	C	T	7: 63,870,002 (GRCm39)	P436S	probably benign	Het
Vmn1r183	T	A	7: 23,754,926 (GRCm39)	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,555 (GRCm39)	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,105,395 (GRCm39)	E76G	probably damaging	Het
Vps72	A	G	3: 95,028,615 (GRCm39)	H202R	probably benign	Het
Wdr75	T	C	1: 45,858,762 (GRCm39)	S644P	probably damaging	Het
Wrn	T	A	8: 33,770,843 (GRCm39)	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,345,262 (GRCm39)	D2501G	probably benign	Het
Zfp472	T	C	17: 33,194,936 (GRCm39)	W24R	probably damaging	Het
Zmym6	T	C	4: 127,016,565 (GRCm39)	V782A	probably damaging	Het

Other mutations in Snd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Snd1	APN	6	28,512,985 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTAGTGGAGCATCCCATGTCAACAG -3'
(R):5'- GCAAAATGTTGCTAGGGACAGAGCC -3'

Sequencing Primer
(F):5'- ATCCCATGTCAACAGTCTGCG -3'
(R):5'- TGTTCCAGGAATAGACAAGCTGC -3'

Posted On

2013-05-23