Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02686:Snapc1'

303570

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 #

IGL02686

Quality Score

Status

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 73964596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

unknown
Transcript: ENSMUST00000021532
AA Change: T12K

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: T12K

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

noncoding transcript
Transcript: ENSMUST00000181735

Predicted Effect

probably benign
Transcript: ENSMUST00000221833

Predicted Effect

unknown
Transcript: ENSMUST00000222025
AA Change: T12K

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	C	T	12: 81,421,674	G58S	possibly damaging	Het
Adcyap1r1	G	A	6: 55,481,125	A304T	probably benign	Het
Adipoq	A	G	16: 23,157,115	T110A	possibly damaging	Het
Ago2	T	C	15: 73,113,742	Y668C	possibly damaging	Het
Ampd2	A	T	3: 108,076,495	D575E	possibly damaging	Het
Anxa5	C	T	3: 36,449,355	E317K	probably benign	Het
Atf2	A	T	2: 73,845,500	M169K	possibly damaging	Het
Bicc1	C	A	10: 70,943,360		probably benign	Het
Bicra	A	G	7: 15,987,915	M559T	probably benign	Het
Cacna1e	G	A	1: 154,493,409	A294V	probably damaging	Het
Cacna1h	G	A	17: 25,385,749	P1197S	possibly damaging	Het
Cmya5	G	A	13: 93,090,997	Q2528*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cts8	T	C	13: 61,250,970	T241A	probably benign	Het
Cubn	T	C	2: 13,325,226	I2615V	possibly damaging	Het
Cxcl12	A	G	6: 117,173,585		probably benign	Het
Fig4	T	C	10: 41,264,004	D307G	probably damaging	Het
Flt1	T	C	5: 147,588,602	I909V	probably damaging	Het
Foxk1	T	A	5: 142,453,585	S427T	probably damaging	Het
Gosr1	G	A	11: 76,750,862	T130M	probably benign	Het
Grik1	G	T	16: 88,009,761		probably null	Het
Hipk1	C	T	3: 103,778,017	S94N	possibly damaging	Het
Ints7	T	C	1: 191,586,592	L147P	probably damaging	Het
Nsd3	A	G	8: 25,666,070	D551G	probably damaging	Het
Olfr510	A	T	7: 108,667,886	I157F	probably benign	Het
Olfr741	G	A	14: 50,485,969	M170I	probably benign	Het
Prrc2c	T	C	1: 162,707,947		probably benign	Het
Ren1	A	T	1: 133,358,469	N250I	possibly damaging	Het
Ripply2	A	C	9: 87,015,956		probably benign	Het
Ryr1	G	T	7: 29,069,550		probably benign	Het
Smad3	T	A	9: 63,667,782	K51M	probably damaging	Het
Srfbp1	T	G	18: 52,475,654	V42G	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tab1	T	C	15: 80,148,830	V105A	probably benign	Het
Tat	T	C	8: 109,996,849	V323A	probably damaging	Het
Tdo2	T	C	3: 81,968,155	N164S	probably benign	Het
Tefm	T	A	11: 80,136,896	L345F	probably damaging	Het
Tmem145	C	A	7: 25,314,725	N407K	probably damaging	Het
Uhrf1bp1	T	C	17: 27,894,589	I1245T	probably benign	Het
Uhrf1bp1l	A	T	10: 89,805,193	Q742L	probably benign	Het
Vmn2r116	A	G	17: 23,388,793	N445S	probably damaging	Het
Vmn2r20	A	G	6: 123,385,626	M733T	probably benign	Het
Vmn2r93	G	A	17: 18,313,264	V477M	possibly damaging	Het
Zdhhc4	A	G	5: 143,320,391	F194S	probably damaging	Het
Zfp738	A	T	13: 67,673,652	S25T	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
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