Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02060:Snapc1'

185382

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 #

IGL02060

Quality Score

Status

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73968036 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 105 (Y105C)

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: Y105C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: Y105C

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

unknown
Transcript: ENSMUST00000221833
AA Change: Y92C

Predicted Effect

probably benign
Transcript: ENSMUST00000222025

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
4932438H23Rik	T	A	16: 91,055,715	I178F	probably damaging	Het
Aff1	T	C	5: 103,783,849	V111A	possibly damaging	Het
Aox1	T	G	1: 58,097,955	I1168R	possibly damaging	Het
Atf6	T	C	1: 170,819,420	R295G	probably damaging	Het
Blm	C	A	7: 80,514,580		probably benign	Het
Cse1l	A	T	2: 166,930,653	L413F	probably damaging	Het
Dip2c	T	C	13: 9,622,630	V1024A	probably damaging	Het
Fam13c	A	T	10: 70,553,141	E498V	probably damaging	Het
Fat4	A	G	3: 39,010,271	E4792G	probably damaging	Het
Gm5065	A	G	7: 5,359,564	T65A	probably damaging	Het
Gm5724	T	A	6: 141,754,408	M133L	probably benign	Het
Gramd1a	A	T	7: 31,130,571	L151*	probably null	Het
Igbp1b	G	T	6: 138,657,984	A154E	probably damaging	Het
Itga9	A	G	9: 118,661,432	K277R	probably damaging	Het
Klra10	T	C	6: 130,272,725	Y199C	probably damaging	Het
Mospd3	T	C	5: 137,600,004	Y85C	probably damaging	Het
Nol6	C	T	4: 41,117,700	A887T	probably damaging	Het
Olfr1006	C	T	2: 85,674,834	V106I	probably benign	Het
Olfr1197	A	T	2: 88,729,563	F12Y	probably damaging	Het
Olfr1427	A	G	19: 12,099,460	Y60H	probably damaging	Het
Olfr480	G	T	7: 108,066,671	F42L	probably benign	Het
Pcdhb17	A	G	18: 37,486,416	T420A	probably damaging	Het
Pgghg	T	C	7: 140,946,633	V646A	probably benign	Het
Prkg2	A	G	5: 99,024,515	S114P	probably benign	Het
Rela	G	T	19: 5,638,600	K28N	probably damaging	Het
Rhbdf2	G	T	11: 116,600,626	A598E	probably damaging	Het
Ryr2	C	T	13: 11,747,564	D1454N	probably damaging	Het
Sdk1	C	T	5: 141,953,012	L397F	possibly damaging	Het
Sh3pxd2a	C	T	19: 47,373,378		probably benign	Het
Slc9a2	T	A	1: 40,756,293	V518E	probably damaging	Het
Sult2a8	A	G	7: 14,425,401	S98P	probably damaging	Het
Tmem30c	T	A	16: 57,290,898	M4L	probably benign	Het
Trim71	T	C	9: 114,513,253	I654V	possibly damaging	Het
Uroc1	A	G	6: 90,338,255	S133G	probably benign	Het
Vmn2r100	A	G	17: 19,521,254	N76S	possibly damaging	Het
Zcchc14	T	C	8: 121,603,895	S910G	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
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

Posted On

2014-05-07