Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03160:Snapc1'

411390

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 #

IGL03160

Quality Score

Status

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73970204 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 205 (H205Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021532 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021532
AA Change: H205Q

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

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: H205Q

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	C	13: 111,255,928	S266P	probably benign	Het
Agrn	A	T	4: 156,170,363	F1525Y	probably damaging	Het
Akap13	T	C	7: 75,730,417	V2165A	probably damaging	Het
Cd109	G	T	9: 78,661,056		probably null	Het
Cdhr4	A	C	9: 107,995,869	T339P	probably benign	Het
Chek1	T	C	9: 36,722,645	H128R	probably damaging	Het
Clcn7	T	A	17: 25,146,453		probably benign	Het
Dnah9	A	G	11: 66,108,054	F1056S	probably damaging	Het
Eml3	A	T	19: 8,934,955	Q372L	probably benign	Het
Fam161b	T	C	12: 84,353,825	T458A	probably benign	Het
Fbxo3	T	A	2: 104,030,347	C36*	probably null	Het
Gm28042	T	A	2: 120,035,828	I369N	possibly damaging	Het
Gpc1	A	G	1: 92,857,857	Y423C	probably damaging	Het
Heatr5a	A	G	12: 51,884,496		probably benign	Het
Hectd4	A	T	5: 121,259,879	Y290F	probably benign	Het
Ifi207	T	C	1: 173,735,104		probably benign	Het
Kndc1	A	T	7: 139,920,689	K657*	probably null	Het
Lama5	T	C	2: 180,180,335	T2927A	probably damaging	Het
Lepr	A	T	4: 101,764,906	N345I	probably damaging	Het
Mtbp	T	C	15: 55,620,617		probably benign	Het
Muc1	G	A	3: 89,233,024	V608I	possibly damaging	Het
Olfr679	A	G	7: 105,086,313	N199S	probably damaging	Het
P2ry13	A	G	3: 59,210,075	L94P	probably damaging	Het
Retreg3	G	T	11: 101,099,675	Q89K	probably benign	Het
Rhoq	A	C	17: 86,996,921	Y160S	probably damaging	Het
Samd9l	A	T	6: 3,374,894	V789D	probably damaging	Het
Slc35f5	T	C	1: 125,574,735	S275P	probably damaging	Het
Slc51a	G	A	16: 32,478,750	R110C	probably damaging	Het
Stard3	G	T	11: 98,378,911	R352L	probably damaging	Het
Stat5a	A	G	11: 100,861,845	I85V	possibly damaging	Het
Tenm3	A	T	8: 48,646,418	D117E	probably benign	Het
Tg	T	A	15: 66,839,303	C971*	probably null	Het
Tnrc6c	T	A	11: 117,749,825		probably benign	Het
Tra2a	C	T	6: 49,263,864	V4I	possibly damaging	Het
Trim54	C	T	5: 31,132,080	T145I	probably damaging	Het
Vmn2r75	T	C	7: 86,148,436	D723G	probably damaging	Het
Wisp3	T	C	10: 39,153,237	T232A	probably damaging	Het
Wnk1	T	C	6: 119,926,633	T2042A	probably damaging	Het
Zfp87	T	C	13: 67,521,273	E18G	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
IGL02686:Snapc1	APN	12	73964596	intron	probably benign
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

Posted On

2016-08-02