Mutagenetix > Incidental Mutations

Incidental Mutation 'R2188:Snapc1'

237938

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

040190-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73970227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 213 (I213N)

Ref Sequence

ENSEMBL: ENSMUSP00000021532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556] [ENSMUST00000222025]

AlphaFold

Q8K0S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021532
AA Change: I213N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: I213N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221833

Predicted Effect

probably benign
Transcript: ENSMUST00000222025

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,002,533	L547P	probably damaging	Het
Arhgap29	A	C	3: 121,991,009	D195A	probably damaging	Het
Atad3a	A	T	4: 155,751,519	I274N	probably damaging	Het
C130060K24Rik	C	A	6: 65,441,276	H143N	probably damaging	Het
Ccdc12	G	T	9: 110,656,631	K23N	possibly damaging	Het
Ccpg1	A	G	9: 73,013,106	T668A	probably benign	Het
Cdc34b	T	C	11: 94,742,172	I66T	probably benign	Het
Dnah1	A	G	14: 31,279,164	I2408T	probably damaging	Het
Fam91a1	A	C	15: 58,430,663	N284T	probably damaging	Het
Gbp2b	A	T	3: 142,608,279	E440V	probably benign	Het
Gm5134	T	C	10: 75,995,836	S370P	probably damaging	Het
Hmcn2	G	A	2: 31,419,935	A3238T	probably benign	Het
Hmg20a	A	G	9: 56,477,300	E118G	possibly damaging	Het
Kdm5a	T	A	6: 120,406,640	F781I	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kmt2d	A	G	15: 98,839,300		probably benign	Het
Lrp1b	T	C	2: 41,408,959	T857A	probably benign	Het
Mucl2	T	A	15: 103,897,574	N39I	probably damaging	Het
Myl6	A	G	10: 128,492,697	I27T	possibly damaging	Het
Ndor1	A	T	2: 25,251,753		probably null	Het
Nlrp9a	A	G	7: 26,564,929	E758G	probably damaging	Het
Olfr52	A	T	2: 86,181,436	I225N	probably damaging	Het
Olfr652	G	A	7: 104,564,676	A152T	probably benign	Het
Parp3	G	A	9: 106,475,852	R42W	probably damaging	Het
Pik3c2g	A	G	6: 139,852,874	I495V	probably damaging	Het
Sdsl	C	T	5: 120,458,420	G310S	probably damaging	Het
Sec24a	A	G	11: 51,723,584	L531P	probably damaging	Het
Slc2a12	C	T	10: 22,664,837	S197F	probably benign	Het
Srpk1	A	T	17: 28,594,189	I527N	probably damaging	Het
Ssfa2	T	C	2: 79,644,923	S409P	probably benign	Het
Steap2	G	T	5: 5,673,643	Y412*	probably null	Het
Tbk1	A	C	10: 121,563,931	Y329*	probably null	Het
Tekt5	T	C	16: 10,358,325	E452G	probably damaging	Het
Tmc5	G	T	7: 118,654,955	C672F	probably damaging	Het
Trim27	T	C	13: 21,183,817	L201S	probably damaging	Het
Vil1	A	C	1: 74,427,565	D638A	probably benign	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Zfp583	C	T	7: 6,317,611	R134H	probably benign	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
R0841:Snapc1	UTSW	12	73975006	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TCTACACTTCCAACCAGCCTGG -3'
(R):5'- GGTAACGCCCTCTGAATCTTG -3'

Sequencing Primer
(F):5'- TGGGCCACATACGAAGACACTG -3'
(R):5'- AGCAATGTGGCCTCTCTACAG -3'

Posted On

2014-10-02