Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00272:Snapc1'

5979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00272

Quality Score

Status

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 73968374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021532
AA Change: K161E

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: K161E

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 null
Transcript: ENSMUST00000221833

Predicted Effect

probably benign
Transcript: ENSMUST00000222025

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 116,973,540	V41A	probably damaging	Het
4932431P20Rik	G	T	7: 29,537,622		noncoding transcript	Het
AI481877	A	G	4: 59,086,961	F284L	probably benign	Het
Ankrd12	C	T	17: 65,986,174	V755I	probably benign	Het
Arrdc3	T	C	13: 80,890,572	S218P	probably damaging	Het
Bzw1	T	C	1: 58,402,942	V292A	possibly damaging	Het
Cers2	T	C	3: 95,321,900	Y228H	probably damaging	Het
Egf	C	T	3: 129,711,449	M625I	probably benign	Het
Fbxw8	A	T	5: 118,068,097	H595Q	probably benign	Het
Fshr	T	A	17: 88,985,271	I660F	probably benign	Het
Gapdh	C	T	6: 125,162,507	V267M	probably damaging	Het
Ginm1	T	C	10: 7,792,696		probably benign	Het
Gja1	A	G	10: 56,388,322	D259G	probably benign	Het
Gm21814	T	A	6: 149,582,004		noncoding transcript	Het
Gm26870	T	C	9: 3,002,340		probably benign	Het
Habp2	G	A	19: 56,317,832	C482Y	probably damaging	Het
Knl1	A	C	2: 119,064,083	N79T	probably damaging	Het
Lama3	G	A	18: 12,491,548	C1450Y	probably damaging	Het
Lats2	T	C	14: 57,691,569	T950A	probably benign	Het
Map2k2	T	A	10: 81,121,073	M95K	probably damaging	Het
Med12l	T	A	3: 59,042,336	I160N	probably damaging	Het
Olfr1158	A	T	2: 87,990,438	D109V	probably damaging	Het
Olfr1160	A	G	2: 88,006,644	S45P	probably damaging	Het
Pes1	T	C	11: 3,976,803	S362P	probably damaging	Het
Pih1h3b	A	G	X: 140,105,962	I197V	probably benign	Het
Ppp6r2	G	T	15: 89,285,813	A844S	probably benign	Het
Rnf130	A	G	11: 50,093,796	I308V	probably damaging	Het
Scn11a	T	C	9: 119,816,603	N95S	probably damaging	Het
Skint2	A	G	4: 112,624,212	T91A	probably damaging	Het
Smg1	A	G	7: 118,198,271		probably benign	Het
Stard10	A	T	7: 101,321,966	Y47F	probably damaging	Het
Tenm3	C	T	8: 48,417,060	V233I	probably damaging	Het
Tex14	G	A	11: 87,535,643	S1165N	probably damaging	Het
Unc5a	A	G	13: 54,995,820	I106V	probably benign	Het
Vps54	T	A	11: 21,277,909	Y275N	possibly damaging	Het

Other mutations in Snapc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20