Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02653:Snapc1'

302252

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 #

IGL02653

Quality Score

Status

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73982487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 348 (P348Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021532 (fasta)

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

probably benign
Transcript: ENSMUST00000021532
AA Change: P348Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: P348Q

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

unknown
Transcript: ENSMUST00000220909
AA Change: P94Q

Predicted Effect

probably benign
Transcript: ENSMUST00000221556

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,115,767		probably benign	Het
Alox5	T	A	6: 116,415,477	H361L	probably benign	Het
Arid2	A	G	15: 96,287,702	N3S	probably damaging	Het
Atp1a4	T	A	1: 172,251,406	I182F	possibly damaging	Het
Ctnna2	A	T	6: 76,980,777	D496E	probably benign	Het
Cyp3a25	G	T	5: 146,003,110	S29Y	possibly damaging	Het
Dglucy	G	A	12: 100,871,431	G611D	probably benign	Het
Efcab5	T	C	11: 77,132,022	K622E	probably damaging	Het
Esyt1	T	A	10: 128,511,008	I1071L	probably benign	Het
Fbn2	T	C	18: 58,076,705	K1035E	probably benign	Het
Frem1	T	G	4: 82,959,334	E1335D	probably benign	Het
Gm5900	A	G	7: 104,950,133		noncoding transcript	Het
Ikbke	T	A	1: 131,271,835	Q283L	possibly damaging	Het
Lepr	A	T	4: 101,764,944	I358F	probably benign	Het
Lnpk	A	G	2: 74,548,048	V123A	probably damaging	Het
Mis12	A	G	11: 71,025,531	K130R	probably damaging	Het
Ncapg2	T	A	12: 116,425,906		probably null	Het
Npy6r	T	C	18: 44,276,627	*372Q	probably null	Het
Polr3d	T	C	14: 70,440,117	D273G	probably damaging	Het
Ppp2r3a	A	G	9: 101,211,693	V477A	probably benign	Het
Prpf19	T	A	19: 10,902,964		probably benign	Het
Pwwp2a	A	G	11: 43,706,035	T676A	possibly damaging	Het
Ralgapb	T	A	2: 158,443,309	I242N	probably damaging	Het
Scn3a	A	T	2: 65,461,187	S1738R	probably damaging	Het
Spert	T	C	14: 75,583,157	D385G	probably damaging	Het
Tbc1d7	T	C	13: 43,165,398	I88V	probably benign	Het
Tnks2	T	C	19: 36,872,451	S220P	probably damaging	Het
Trim56	A	T	5: 137,112,906	S585R	probably damaging	Het
Trpm2	T	G	10: 77,912,669	E1389A	probably benign	Het
Tspear	T	A	10: 77,706,965		probably benign	Het
Vmn1r180	T	C	7: 23,953,075	I221T	probably damaging	Het
Vmn1r204	A	C	13: 22,556,630	I144L	probably benign	Het
Vmn2r20	A	T	6: 123,385,365	I820N	probably damaging	Het
Vwa3b	T	A	1: 37,175,565		probably benign	Het
Wnt1	G	A	15: 98,792,455	G222R	probably damaging	Het
Zadh2	T	C	18: 84,095,318	V373A	possibly 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
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

2015-04-16