Mutagenetix > Incidental Mutation

Incidental Mutation 'R6019:Snd1'

478785

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

044193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R6019 (G1)

Quality Score

158.009

Status

Validated

Chromosome

Chromosomal Location

28480332-28935161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28880233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 669 (V669A)

Ref Sequence

ENSEMBL: ENSMUSP00000001460 (fasta)

Gene Model

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

AlphaFold

Q78PY7

Predicted Effect

probably benign
Transcript: ENSMUST00000001460
AA Change: V669A

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

SMART Domains

Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: V669A

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

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

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

96% (81/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,201 (GRCm39)	H436Y	possibly damaging	Het
Acad10	A	T	5: 121,772,864 (GRCm39)	H472Q	possibly damaging	Het
Ano8	G	A	8: 71,935,024 (GRCm39)	R393C	probably damaging	Het
Arhgap18	T	A	10: 26,736,646 (GRCm39)	V163E	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacng5	T	C	11: 107,775,214 (GRCm39)	M52V	probably benign	Het
Casz1	T	C	4: 149,031,495 (GRCm39)	C1249R	probably damaging	Het
Cenpj	C	T	14: 56,772,272 (GRCm39)	S1086N	probably benign	Het
Chi3l1	T	C	1: 134,117,310 (GRCm39)	F367S	probably benign	Het
Copg2	A	T	6: 30,787,868 (GRCm39)	I610N	possibly damaging	Het
Cpa6	T	C	1: 10,665,868 (GRCm39)	K57E	possibly damaging	Het
D5Ertd579e	C	T	5: 36,787,036 (GRCm39)	A111T	possibly damaging	Het
Dgat2	A	G	7: 98,803,838 (GRCm39)	M361T	probably benign	Het
Dnm3	G	T	1: 161,962,070 (GRCm39)	F46L	probably damaging	Het
Dph7	T	A	2: 24,853,552 (GRCm39)	C122*	probably null	Het
Dspp	A	T	5: 104,325,905 (GRCm39)	D756V	unknown	Het
Efcab3	T	C	11: 104,933,728 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,525,583 (GRCm39)	M1469K	unknown	Het
Fsip2	T	C	2: 82,818,283 (GRCm39)	I4672T	possibly damaging	Het
Gapdh	A	T	6: 125,139,996 (GRCm39)	L67*	probably null	Het
Gpr75	A	G	11: 30,841,640 (GRCm39)	R182G	probably benign	Het
Gsr	G	T	8: 34,183,835 (GRCm39)	A366S	probably damaging	Het
Gypc	A	G	18: 32,663,248 (GRCm39)	I33T	probably damaging	Het
Hapln1	A	G	13: 89,756,219 (GRCm39)	D341G	probably benign	Het
Hnrnpd	A	G	5: 100,115,095 (GRCm39)	S148P	probably benign	Het
Hydin	A	T	8: 111,293,252 (GRCm39)	T3450S	probably benign	Het
Kif20b	T	C	19: 34,927,864 (GRCm39)	V1002A	probably benign	Het
Kif5c	T	C	2: 49,625,521 (GRCm39)	V597A	probably benign	Het
Kntc1	A	G	5: 123,900,579 (GRCm39)	T226A	probably benign	Het
Krt75	C	A	15: 101,482,158 (GRCm39)	V37L	probably benign	Het
L3mbtl2	A	G	15: 81,571,143 (GRCm39)	I668V	probably benign	Het
Lrp1b	G	A	2: 41,192,982 (GRCm39)	A480V	probably damaging	Het
Lrp1b	T	A	2: 41,366,821 (GRCm39)	D485V	probably damaging	Het
Lrrc37a	T	C	11: 103,347,422 (GRCm39)	H3091R	unknown	Het
Msi1	A	G	5: 115,589,550 (GRCm39)	Y361C	probably damaging	Het
Mtus1	G	T	8: 41,536,077 (GRCm39)	N546K	probably benign	Het
Mup17	T	A	4: 61,511,936 (GRCm39)	T113S	probably benign	Het
Myh11	T	A	16: 14,023,938 (GRCm39)	D1479V	probably damaging	Het
Ncor1	C	T	11: 62,263,987 (GRCm39)	E198K	probably benign	Het
Nrde2	A	G	12: 100,098,501 (GRCm39)	V722A	probably benign	Het
Or13a28	T	C	7: 140,217,925 (GRCm39)	F104L	probably benign	Het
Or51f23	C	T	7: 102,453,491 (GRCm39)	R269*	probably null	Het
Or5ac24	C	T	16: 59,165,798 (GRCm39)	D89N	possibly damaging	Het
Otog	A	G	7: 45,938,374 (GRCm39)	M2028V	probably benign	Het
Paox	T	A	7: 139,711,655 (GRCm39)	V169E	probably damaging	Het
Pcsk9	T	G	4: 106,314,073 (GRCm39)	D174A	probably benign	Het
Pde4b	A	G	4: 102,427,966 (GRCm39)	E41G	possibly damaging	Het
Pip4k2c	A	G	10: 127,034,943 (GRCm39)	I419T	probably damaging	Het
Plekhg3	G	T	12: 76,624,715 (GRCm39)	E1186*	probably null	Het
Pole	C	A	5: 110,472,380 (GRCm39)	P1548T	probably benign	Het
Pole	C	T	5: 110,472,381 (GRCm39)	P1548L	probably benign	Het
Polq	A	G	16: 36,882,126 (GRCm39)	E1430G	probably damaging	Het
Potefam3c	A	T	8: 69,881,966 (GRCm39)	C337S	probably benign	Het
Pramel47	G	A	5: 95,488,072 (GRCm39)	S2N	probably damaging	Het
Ptgr2	T	C	12: 84,344,920 (GRCm39)	S98P	probably damaging	Het
Ralgapa1	A	G	12: 55,730,827 (GRCm39)	Y1903H	possibly damaging	Het
Rasgrp1	T	C	2: 117,122,376 (GRCm39)	D338G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnase13	C	T	14: 52,159,860 (GRCm39)	C93Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
S100z	T	A	13: 95,613,934 (GRCm39)	M59L	probably benign	Het
Ska1	T	A	18: 74,332,992 (GRCm39)	D142V	probably benign	Het
Slc16a3	T	C	11: 120,847,931 (GRCm39)		probably null	Het
Snrpd3	A	T	10: 75,368,029 (GRCm39)	T49S	probably damaging	Het
Sort1	T	C	3: 108,264,549 (GRCm39)	L856P	possibly damaging	Het
Srek1ip1	T	A	13: 104,970,830 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,875,796 (GRCm39)	S552P	probably damaging	Het
Stab2	A	G	10: 86,838,886 (GRCm39)	V60A	probably benign	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,494,525 (GRCm39)	H743Q	possibly damaging	Het
Tpo	G	T	12: 30,144,980 (GRCm39)	R590S	possibly damaging	Het
Trbv12-1	A	T	6: 41,090,780 (GRCm39)	T51S	probably benign	Het
Trbv30	C	T	6: 41,258,708 (GRCm39)	A40V	probably benign	Het
Tulp4	T	A	17: 6,283,490 (GRCm39)	V1173E	possibly damaging	Het
Upk1a	A	T	7: 30,311,810 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,879,610 (GRCm39)	Q772R	probably benign	Het
Vmn1r199	A	G	13: 22,566,769 (GRCm39)	D21G	possibly damaging	Het
Vmn2r7	T	C	3: 64,623,643 (GRCm39)	T317A	probably damaging	Het
Wdfy3	A	G	5: 101,997,289 (GRCm39)	V3112A	probably damaging	Het
Zbtb8os	T	C	4: 129,234,542 (GRCm39)	V40A	possibly damaging	Het
Zfp1002	T	A	2: 150,097,132 (GRCm39)	H99L	probably damaging	Het
Zwint	A	G	10: 72,492,685 (GRCm39)	K108E	possibly 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
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
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'- GACCCTCTAACCTGGAACTTCAG -3'
(R):5'- AGGTGACATAGTCCCAGTGC -3'

Sequencing Primer
(F):5'- GGAACTTCAGAGACTCCAGCTTTC -3'
(R):5'- TGACATAGTCCCAGTGCGATGG -3'

Posted On

2017-06-26