Mutagenetix > Incidental Mutation

Incidental Mutation 'R0152:Snapc1'

60899

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

038435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0152 (G1)

Quality Score

225

Status

Not 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: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.5%

Validation Efficiency

87% (40/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,689	D834G	probably damaging	Het
Abca13	T	A	11: 9,581,724	H4650Q	probably damaging	Het
Aqr	T	A	2: 114,159,010	T111S	probably benign	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgap44	G	T	11: 65,011,919	A574E	probably benign	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Car5a	T	A	8: 121,916,446	N273I	probably damaging	Het
Cd4	G	A	6: 124,867,746	Q359*	probably null	Het
Cgrrf1	G	A	14: 46,853,913	C298Y	probably damaging	Het
Clip3	G	A	7: 30,303,432	A416T	probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eif3e	G	A	15: 43,252,236	A378V	possibly damaging	Het
Ercc6	C	G	14: 32,546,905		probably benign	Het
Eri2	A	G	7: 119,790,383	V104A	probably damaging	Het
Exph5	T	A	9: 53,353,204		probably null	Het
Hmcn1	A	T	1: 150,663,879	Y2954N	probably benign	Het
Itga2	C	T	13: 114,866,314	G547R	probably benign	Het
Kbtbd11	T	C	8: 15,027,428	V9A	probably damaging	Het
Ldb2	T	C	5: 44,541,799	D99G	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Mgarp	T	C	3: 51,388,963	D228G	probably benign	Het
Myh14	A	T	7: 44,623,181	L1441Q	probably damaging	Het
Obscn	T	C	11: 59,052,576	D4810G	probably benign	Het
Olfr1331	T	A	4: 118,868,886	I34N	possibly damaging	Het
Olfr1448	A	G	19: 12,920,108	V67A	possibly damaging	Het
Olfr293	A	T	7: 86,664,511	Y283F	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pdpk1	C	T	17: 24,106,946	R92H	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc26a4	T	C	12: 31,529,498	I588M	probably damaging	Het
Slc9a2	A	G	1: 40,742,804	T398A	probably damaging	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Usp3	T	C	9: 66,540,150	T181A	probably damaging	Het
Vars2	A	G	17: 35,660,027	L637P	probably damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Zbtb38	T	C	9: 96,686,280	Y917C	probably damaging	Het
Zfp68	T	C	5: 138,606,613	K445E	probably damaging	Het
Zmynd10	A	G	9: 107,550,945		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
R0057:Snapc1	UTSW	12	73975032	missense	probably damaging	1.00
R0113: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
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'- CAGGAATCTGGCGGTACAGTTACG -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'

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

Posted On

2013-07-24