Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Snapc1'

64362

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik, 9630050P21Rik

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0056 (G1)

Quality Score

115

Status

Not validated

Chromosome

Chromosomal Location

74011255-74035740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74021806 bp (GRCm39)

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
Etv3	T	C	3: 87,443,135 (GRCm39)	Y240H	possibly damaging	Het
Fscb	T	G	12: 64,521,021 (GRCm39)	R148S	possibly damaging	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Pold2	T	A	11: 5,822,338 (GRCm39)	S444C	possibly damaging	Het
Robo4	G	A	9: 37,315,773 (GRCm39)	R342Q	probably benign	Het
Satb1	T	A	17: 52,047,231 (GRCm39)	I695F	probably damaging	Het
Stk10	T	A	11: 32,567,851 (GRCm39)	N884K	possibly damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	possibly damaging	Het

Other mutations in Snapc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Snapc1	APN	12	74,015,148 (GRCm39)	splice site	probably null
IGL00529:Snapc1	APN	12	74,011,429 (GRCm39)	missense	probably benign	0.00
IGL00676:Snapc1	APN	12	74,018,687 (GRCm39)	missense	probably damaging	1.00
IGL01373:Snapc1	APN	12	74,011,454 (GRCm39)	missense	probably benign	0.00
IGL02060:Snapc1	APN	12	74,014,810 (GRCm39)	missense	probably damaging	1.00
IGL02309:Snapc1	APN	12	74,014,801 (GRCm39)	missense	probably damaging	1.00
IGL02653:Snapc1	APN	12	74,029,261 (GRCm39)	missense	probably benign	0.00
IGL02686:Snapc1	APN	12	74,011,370 (GRCm39)	intron	probably benign
IGL03160:Snapc1	APN	12	74,016,978 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Snapc1	UTSW	12	74,029,269 (GRCm39)	missense	probably damaging	0.98
R0057:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0057:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0113:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0152:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0153:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0244:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0245:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0316:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0318:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0352:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0646:Snapc1	UTSW	12	74,021,806 (GRCm39)	missense	probably damaging	1.00
R0841:Snapc1	UTSW	12	74,021,780 (GRCm39)	splice site	probably benign
R2188:Snapc1	UTSW	12	74,017,001 (GRCm39)	missense	probably damaging	1.00
R2483:Snapc1	UTSW	12	74,011,417 (GRCm39)	missense	probably benign	0.02
R4165:Snapc1	UTSW	12	74,029,354 (GRCm39)	critical splice donor site	probably null
R4169:Snapc1	UTSW	12	74,029,265 (GRCm39)	missense	probably benign	0.00
R4549:Snapc1	UTSW	12	74,017,053 (GRCm39)	missense	probably damaging	0.97
R4550:Snapc1	UTSW	12	74,017,053 (GRCm39)	missense	probably damaging	0.97
R4658:Snapc1	UTSW	12	74,030,642 (GRCm39)	missense	possibly damaging	0.75
R6976:Snapc1	UTSW	12	74,016,974 (GRCm39)	missense	probably damaging	1.00
R7432:Snapc1	UTSW	12	74,015,068 (GRCm39)	missense	probably benign	0.01
R7488:Snapc1	UTSW	12	74,029,285 (GRCm39)	missense	probably benign	0.39
R8507:Snapc1	UTSW	12	74,011,506 (GRCm39)	missense	probably damaging	1.00
R8809:Snapc1	UTSW	12	74,021,812 (GRCm39)	missense	probably benign	0.31
R9287:Snapc1	UTSW	12	74,018,773 (GRCm39)	unclassified	probably benign
R9685:Snapc1	UTSW	12	74,017,115 (GRCm39)	critical splice donor site	probably null
R9705:Snapc1	UTSW	12	74,015,150 (GRCm39)	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

2013-08-06