Mutagenetix > Incidental Mutations

Incidental Mutation 'R0057:Snapc1'

16456

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

038351-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73975032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 81 (R81C)

Ref Sequence

ENSEMBL: ENSMUSP00000152248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556]

AlphaFold

Q8K0S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021532
AA Change: R302C

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

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: R302C

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:SNAPc_SNAP43	26	210	4.5e-65	PFAM
low complexity region	261	273	N/A	INTRINSIC
low complexity region	307	316	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000220882
AA Change: R81C

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

Predicted Effect

unknown
Transcript: ENSMUST00000220909
AA Change: R48C

Predicted Effect

probably benign
Transcript: ENSMUST00000221556

Meta Mutation Damage Score

0.2723

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,941,559	F1309L	possibly damaging	Het
Abcc6	C	T	7: 46,020,143	A163T	probably benign	Het
Adam23	T	A	1: 63,570,919	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,423,086	F392L	probably damaging	Het
Ak9	A	T	10: 41,392,728	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,470,389		probably benign	Het
Arhgef10l	A	G	4: 140,611,218		probably benign	Het
Bloc1s6	T	A	2: 122,744,221		probably benign	Het
Caskin1	A	G	17: 24,504,896	N886S	probably damaging	Het
Celsr1	A	C	15: 86,030,762	S1003R	probably benign	Het
Ctse	G	T	1: 131,663,371	D97Y	probably damaging	Het
Cux1	T	A	5: 136,256,282	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,569,310	V490A	probably benign	Het
Dscam	A	C	16: 96,673,736	W1209G	probably damaging	Het
Emc8	A	G	8: 120,659,083		probably benign	Het
Entpd6	A	G	2: 150,758,828	K152R	probably null	Het
Eps8l2	C	T	7: 141,342,971	T49I	probably benign	Het
Fuk	C	T	8: 110,893,768		probably benign	Het
Gm12251	C	A	11: 58,393,041		probably benign	Het
Gna11	A	G	10: 81,530,940	M312T	probably benign	Het
Hacd2	T	A	16: 35,075,627	V105D	probably damaging	Het
Il17a	T	A	1: 20,733,657	I92N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Irak4	A	C	15: 94,553,872	R115S	probably benign	Het
Jarid2	C	T	13: 44,884,856	H77Y	probably damaging	Het
Kcnk6	A	T	7: 29,225,663	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,576,792		probably benign	Het
Kremen2	A	C	17: 23,743,228	I210S	possibly damaging	Het
Ldah	T	C	12: 8,238,432		probably benign	Het
Lgals9	A	T	11: 78,971,436		probably benign	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Msh4	C	T	3: 153,869,681	A686T	probably benign	Het
Mycbp2	T	C	14: 103,152,142	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,842,612		probably null	Het
Nmbr	A	G	10: 14,760,524	N79S	probably damaging	Het
Npsr1	A	T	9: 24,300,427	I84F	probably damaging	Het
Olfr1022	C	A	2: 85,869,253	Y220*	probably null	Het
Olfr1346	T	C	7: 6,474,680	L190P	probably damaging	Het
Olfr648	G	T	7: 104,180,329	H26Q	probably benign	Het
Prlr	A	G	15: 10,328,423	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,391,383	S977P	probably benign	Het
Ros1	C	T	10: 52,180,191	V68I	probably benign	Het
RP24-170A20.3	T	A	10: 39,891,097		probably benign	Het
Shmt2	G	A	10: 127,521,048	T31M	possibly damaging	Het
Snrnp200	C	G	2: 127,237,907	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,216,380	C154*	probably null	Het
Tdrd6	G	A	17: 43,617,161		probably benign	Het
Tmem175	C	T	5: 108,639,562	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,685,149		probably benign	Het
Top3a	C	T	11: 60,740,684	A951T	probably benign	Het
Tram2	C	T	1: 21,006,154	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,640,486	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,024,547	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,545,106		noncoding transcript	Het
Zfp770	T	A	2: 114,197,232	R119*	probably null	Het

Other mutations in Snapc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Snapc1	APN	12	73968374	splice site	probably null
IGL00529:Snapc1	APN	12	73964655	missense	probably benign	0.00
IGL00676:Snapc1	APN	12	73971913	missense	probably damaging	1.00
IGL01373:Snapc1	APN	12	73964680	missense	probably benign	0.00
IGL02060:Snapc1	APN	12	73968036	missense	probably damaging	1.00
IGL02309:Snapc1	APN	12	73968027	missense	probably damaging	1.00
IGL02653:Snapc1	APN	12	73982487	missense	probably benign	0.00
IGL02686:Snapc1	APN	12	73964596	intron	probably benign
IGL03160:Snapc1	APN	12	73970204	missense	probably damaging	1.00
PIT4362001:Snapc1	UTSW	12	73982495	missense	probably damaging	0.98
R0056:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0057:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0113:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0152:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0153:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0244:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0245:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0316:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0318:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0352:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0646:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0841:Snapc1	UTSW	12	73975006	splice site	probably benign
R2188:Snapc1	UTSW	12	73970227	missense	probably damaging	1.00
R2483:Snapc1	UTSW	12	73964643	missense	probably benign	0.02
R4165:Snapc1	UTSW	12	73982580	critical splice donor site	probably null
R4169:Snapc1	UTSW	12	73982491	missense	probably benign	0.00
R4549:Snapc1	UTSW	12	73970279	missense	probably damaging	0.97
R4550:Snapc1	UTSW	12	73970279	missense	probably damaging	0.97
R4658:Snapc1	UTSW	12	73983868	missense	possibly damaging	0.75
R6976:Snapc1	UTSW	12	73970200	missense	probably damaging	1.00
R7432:Snapc1	UTSW	12	73968294	missense	probably benign	0.01
R7488:Snapc1	UTSW	12	73982511	missense	probably benign	0.39
R8507:Snapc1	UTSW	12	73964732	missense	probably damaging	1.00
R8809:Snapc1	UTSW	12	73975038	missense	probably benign	0.31

Posted On

2013-01-20