Mutagenetix > Incidental Mutation

Incidental Mutation 'R0841:Snapc1'

77178

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

039020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 73975006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152102 (fasta)

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

probably benign
Transcript: ENSMUST00000021532

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113

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 benign
Transcript: ENSMUST00000220882

Predicted Effect

probably benign
Transcript: ENSMUST00000220909

Predicted Effect

probably benign
Transcript: ENSMUST00000221556

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.1%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	A	4: 73,942,749	M205L	probably benign	Het
Aass	A	T	6: 23,075,811	C776S	probably benign	Het
Abi3bp	T	C	16: 56,668,276	S1257P	possibly damaging	Het
Arhgap9	T	A	10: 127,329,639	M639K	probably damaging	Het
Armc4	G	T	18: 7,268,436	P361Q	probably damaging	Het
Ctsj	C	T	13: 61,002,543	S214N	probably damaging	Het
Dnali1	T	C	4: 125,065,547	S18G	possibly damaging	Het
Eif4g3	C	T	4: 138,165,818	T959M	probably damaging	Het
Eml3	G	A	19: 8,937,685	M635I	probably benign	Het
Eml6	A	G	11: 29,777,430	F1231L	probably benign	Het
Fat4	A	C	3: 38,995,998	K4003T	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fgfr2	G	A	7: 130,261,905	P4S	probably benign	Het
Fgfr2	T	C	7: 130,772,007		probably benign	Het
Glp1r	T	C	17: 30,919,432	V160A	probably benign	Het
Gm9726	C	T	12: 93,928,280		noncoding transcript	Het
Gm9956	C	A	10: 56,745,328	L29M	unknown	Het
Gm9956	T	A	10: 56,745,329	L29Q	unknown	Het
Hddc3	T	A	7: 80,345,653	S139T	probably benign	Het
Hmcn1	A	T	1: 150,679,607		probably null	Het
Inpp5k	T	C	11: 75,633,459		probably benign	Het
Kcnq1	A	G	7: 143,107,452	K32E	probably benign	Het
Krtdap	A	T	7: 30,789,550		probably benign	Het
Ldb2	A	G	5: 44,532,674	L201P	probably damaging	Het
Mdn1	T	C	4: 32,752,032	V4590A	probably benign	Het
Nip7	C	A	8: 107,057,375	H82Q	probably benign	Het
Olfr685	A	T	7: 105,180,854	V168E	probably damaging	Het
Otud6b	T	A	4: 14,812,532	T272S	probably benign	Het
Plxna1	A	G	6: 89,332,204	V1131A	probably damaging	Het
Prl7a1	T	A	13: 27,642,410		probably benign	Het
Sipa1	C	A	19: 5,654,807	A587S	probably benign	Het
Slc17a6	A	T	7: 51,625,315	I41F	probably benign	Het
Slc43a2	T	A	11: 75,566,989	Y363*	probably null	Het
Smg1	A	T	7: 118,143,301	L3230Q	possibly damaging	Het
Syne2	T	C	12: 76,074,435		probably benign	Het
Tap2	C	A	17: 34,215,940	D652E	possibly damaging	Het
Trp53rkb	T	C	2: 166,795,510	C129R	probably benign	Het
Ugt2a2	T	C	5: 87,474,789	T317A	probably benign	Het
Ugt3a1	G	A	15: 9,306,128	S121N	probably benign	Het
Unc80	T	C	1: 66,472,088	V85A	probably damaging	Het
Vmn2r71	A	G	7: 85,618,541	T68A	possibly damaging	Het
Zfp7	G	A	15: 76,891,504	C582Y	probably damaging	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
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
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
R9287:Snapc1	UTSW	12	73971999	unclassified	probably benign
R9685:Snapc1	UTSW	12	73970341	critical splice donor site	probably null
R9705:Snapc1	UTSW	12	73968376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATTTTAACCCAGCGTGAGC -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'

Sequencing Primer
(F):5'- CCCAGCGTGAGCTGGTG -3'
(R):5'- taccccccaaccaaccc -3'

Posted On

2013-10-16