Mutagenetix > Incidental Mutations

Incidental Mutation 'R6976:Snapc1'

542471

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73970200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 204 (D204G)

Ref Sequence

ENSEMBL: ENSMUSP00000021532 (fasta)

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021532
AA Change: D204G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: D204G

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

Meta Mutation Damage Score

0.1747

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,556,009		probably null	Het
Adamts4	G	T	1: 171,252,308		probably benign	Het
Adgrv1	T	A	13: 81,520,997	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,648,254	S2120R	probably benign	Het
Ash1l	T	A	3: 88,981,657	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,438,029	A35T	probably benign	Het
Brpf3	A	G	17: 28,835,777	M1098V	probably damaging	Het
Cel	G	A	2: 28,556,842	S439F	probably damaging	Het
Dnah11	T	C	12: 118,198,643	S64G	probably benign	Het
Dpp7	T	C	2: 25,354,824		probably null	Het
Fam83c	T	A	2: 155,830,237	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,819,867	I322T	probably damaging	Het
Glod4	A	G	11: 76,243,580	F22S	probably damaging	Het
Gm3127	A	G	14: 4,172,441	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,196,956	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,991,436	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,780,200	S421N	probably benign	Het
Grm1	T	C	10: 10,689,180	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,196,218	T284A	probably benign	Het
Il9r	G	A	11: 32,193,177	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,115,015	C381S	probably benign	Het
Mitd1	A	T	1: 37,882,697	D85E	probably benign	Het
Muc4	G	A	16: 32,762,518	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,445,939	I483T	probably damaging	Het
Olfr699	A	T	7: 106,790,227	M258K	probably damaging	Het
Olfr70	A	G	4: 43,697,170	M1T	probably null	Het
Olfr967	A	G	9: 39,751,244	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,343,578	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,731,268	E39K	probably damaging	Het
Pja2	T	C	17: 64,308,959	K314E	probably damaging	Het
Plcb1	A	G	2: 135,262,239	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,544,145	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,692,844	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,262,902	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,361,732	E442*	probably null	Het
Sry	C	T	Y: 2,662,938	D241N	unknown	Het
Strn4	T	A	7: 16,830,354	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,471	I197T	probably benign	Het
Tnni3k	A	G	3: 154,792,776	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,595	C419*	probably null	Het
Trpm6	T	C	19: 18,783,163	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,580	C201*	probably null	Het
Ubr4	A	G	4: 139,393,077	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,634,044	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,224,353	W215*	probably null	Het
Xirp1	A	T	9: 120,017,918	M633K	probably damaging	Het
Zfp174	T	C	16: 3,847,940	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,480,403	S926C	probably damaging	Het
Zfp943	T	C	17: 21,990,941	S65P	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGCAACTTGTAGCCACTTTG -3'
(R):5'- ACATCTGCCTCTAACACAGGG -3'

Sequencing Primer
(F):5'- ACACATCTGAGTTTGAGGTCAGCC -3'
(R):5'- AGCAAGCACTTACCTTCC -3'

Posted On

2018-11-28