Mutagenetix > Incidental Mutation

Incidental Mutation 'R0352:Snapc1'

29721

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

038558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73975032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 81 (R81C)

Ref Sequence

ENSEMBL: ENSMUSP00000152248 (fasta)

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021532
AA Change: R302C

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

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: R302C

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 damaging
Transcript: ENSMUST00000220882
AA Change: R81C

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

Predicted Effect

unknown
Transcript: ENSMUST00000220909
AA Change: R48C

Predicted Effect

probably benign
Transcript: ENSMUST00000221556

Meta Mutation Damage Score

0.2723

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.4%
20x: 90.0%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,138,030	T64M	possibly damaging	Het
3110040N11Rik	G	T	7: 81,788,460	N49K	probably benign	Het
Adrb1	T	A	19: 56,722,861	F164I	probably damaging	Het
Aplf	C	T	6: 87,653,884	V190I	probably benign	Het
Aqr	A	G	2: 114,170,052	Y50H	probably damaging	Het
Arfgef3	A	C	10: 18,661,387	I182R	probably benign	Het
BC080695	A	T	4: 143,571,308		probably benign	Het
Cacna1b	G	A	2: 24,625,232		probably benign	Het
Casp9	A	G	4: 141,805,530	T246A	probably damaging	Het
Clcn6	A	G	4: 148,014,606	S427P	probably damaging	Het
Cnga1	T	C	5: 72,604,503	N556S	possibly damaging	Het
Cntnap2	G	A	6: 45,992,084		probably null	Het
Col11a2	T	G	17: 34,042,527	V120G	probably benign	Het
Cux2	A	C	5: 121,884,739		probably benign	Het
Dmrt2	T	C	19: 25,678,662	S542P	probably damaging	Het
Dnah7b	A	G	1: 46,277,126	H3133R	probably damaging	Het
Drosha	G	A	15: 12,837,288	R286Q	unknown	Het
Eipr1	A	G	12: 28,766,785	D47G	probably damaging	Het
Fam192a	A	G	8: 94,588,011	F73S	probably damaging	Het
Fras1	T	G	5: 96,726,540	Y2275D	probably damaging	Het
Gm13083	A	T	4: 143,615,989	D222V	possibly damaging	Het
Grm4	C	T	17: 27,451,891		probably benign	Het
Hebp1	A	G	6: 135,152,920	V100A	possibly damaging	Het
Hivep2	G	A	10: 14,143,295	V1937I	possibly damaging	Het
Hs3st6	T	C	17: 24,758,194	V216A	probably damaging	Het
Hsd17b4	T	C	18: 50,191,784	I688T	probably benign	Het
Hydin	T	C	8: 110,569,901		probably null	Het
Iws1	A	G	18: 32,084,205	E426G	probably damaging	Het
Klrb1f	T	C	6: 129,053,717	S64P	probably damaging	Het
Lacc1	C	T	14: 77,035,189	G56R	probably damaging	Het
Lcmt2	A	G	2: 121,138,896	S569P	probably benign	Het
Lipm	C	T	19: 34,112,875		probably benign	Het
Lum	A	G	10: 97,568,609	H122R	probably damaging	Het
Magi2	A	G	5: 20,065,666	Y15C	probably damaging	Het
Mal	A	T	2: 127,640,366	I39N	probably damaging	Het
Mgme1	A	G	2: 144,276,399	H197R	probably benign	Het
Mmrn1	A	T	6: 60,944,971	K137N	probably benign	Het
Myh3	T	A	11: 67,090,428	C706S	possibly damaging	Het
Myo18b	A	T	5: 112,874,523		probably benign	Het
Myom1	A	G	17: 71,045,749	E356G	possibly damaging	Het
Nfib	A	G	4: 82,504,717		probably benign	Het
Npc1l1	T	C	11: 6,223,076	M788V	probably benign	Het
Olfr459	C	T	6: 41,772,124	M58I	probably damaging	Het
Pdha2	A	G	3: 141,211,696	V17A	probably benign	Het
Pgap1	A	T	1: 54,486,458		probably benign	Het
Polr1a	G	T	6: 71,920,763		probably benign	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Prmt2	A	T	10: 76,208,503	V405D	possibly damaging	Het
Psg26	T	A	7: 18,475,256	Y409F	probably benign	Het
Ptges	G	T	2: 30,903,132	Y29*	probably null	Het
Ptrhd1	A	G	12: 4,236,399	T97A	probably benign	Het
Ripk3	T	A	14: 55,786,743		probably benign	Het
Rnf114	A	T	2: 167,511,216	I136F	probably benign	Het
Serinc5	A	G	13: 92,707,989		probably null	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc23a2	C	A	2: 132,060,796	M495I	probably benign	Het
Slc52a3	T	A	2: 152,007,513	L360*	probably null	Het
Syt5	A	G	7: 4,541,171	V290A	probably benign	Het
Szt2	G	A	4: 118,382,593	A1931V	unknown	Het
Tasp1	A	G	2: 139,951,458		probably null	Het
Tcp10a	C	A	17: 7,326,406	D43E	probably damaging	Het
Tnfsf11	A	T	14: 78,278,968	Y187N	probably benign	Het
Tppp2	T	A	14: 51,919,350	N61K	possibly damaging	Het
Wwtr1	A	T	3: 57,575,127	W100R	probably damaging	Het
Zfp623	A	G	15: 75,948,584	D463G	probably benign	Het
Zfp990	A	G	4: 145,536,604	I57M	probably damaging	Het
Zmat5	G	A	11: 4,722,413	C10Y	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
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
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
R9287:Snapc1	UTSW	12	73971999	unclassified	probably benign
R9685:Snapc1	UTSW	12	73970341	critical splice donor site	probably null
R9705:Snapc1	UTSW	12	73968376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGAATCTGGCGGTACAGTTACG -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'

Sequencing Primer
(F):5'- GCTCTGTCCTCAGACCATTT -3'
(R):5'- taccccccaaccaaccc -3'

Posted On

2013-04-24