Mutagenetix > Incidental Mutations

Incidental Mutation 'R0318:Snapc1'

25532

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

038528-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0318 (G1)

Quality Score

190

Status

Not 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: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,028,974	L79Q	probably damaging	Het
Add1	T	C	5: 34,625,340	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,534,072	T73K	probably benign	Het
BC005561	T	C	5: 104,517,753	F47S	probably benign	Het
Blk	A	G	14: 63,374,197	Y430H	probably damaging	Het
C3	C	T	17: 57,224,709	V272M	probably damaging	Het
Cerk	C	T	15: 86,151,565	A254T	possibly damaging	Het
Ces2a	G	A	8: 104,740,824	A494T	probably damaging	Het
Cfap46	T	C	7: 139,654,566	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,062,227	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446	N208S	possibly damaging	Het
Coro7	T	A	16: 4,675,807	H63L	probably benign	Het
Cps1	T	A	1: 67,177,014	W833R	probably damaging	Het
Csmd3	A	T	15: 47,659,153	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Ddx50	A	T	10: 62,642,837	I190K	probably damaging	Het
Dnmt3l	G	A	10: 78,055,055	V264M	probably damaging	Het
Dnpep	A	G	1: 75,316,626	V33A	probably damaging	Het
Fam163a	A	G	1: 156,079,969	C26R	probably damaging	Het
Fam83h	A	G	15: 76,003,629	S620P	probably benign	Het
Fcna	A	G	2: 25,625,059	S263P	probably benign	Het
Fnip2	A	T	3: 79,512,378	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,148	T244A	probably benign	Het
Gpr152	T	C	19: 4,143,542	S361P	possibly damaging	Het
Grm5	A	T	7: 87,602,967	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,237,798	S229P	probably benign	Het
Htr7	C	T	19: 35,969,486	G376D	probably damaging	Het
Irgc1	T	C	7: 24,432,471	D307G	probably benign	Het
Irs1	A	T	1: 82,288,660	S612T	probably benign	Het
Maml2	C	T	9: 13,620,594	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,097,335	V64A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Nptx1	C	T	11: 119,542,541	E411K	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr995	C	A	2: 85,438,237	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,412,190	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,234,649	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,911,707	T679A	probably damaging	Het
Sipa1l2	G	A	8: 125,447,697	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,157,000	M222V	probably benign	Het
Smg9	T	C	7: 24,420,888	F429S	possibly damaging	Het
Sorl1	T	A	9: 42,081,954	Y258F	probably damaging	Het
Srp72	C	T	5: 76,984,200	T242I	probably benign	Het
Stc1	A	T	14: 69,038,418	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,711,832	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 127,199,034	L645P	probably damaging	Het
Timd4	T	A	11: 46,837,071	H272Q	probably benign	Het
Ttll5	T	G	12: 85,876,594		probably null	Het
Veph1	G	T	3: 66,057,259	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 20,846,816	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,856,154	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,784,962	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,276,281	R897H	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
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
R8809:Snapc1	UTSW	12	73975038	missense	probably benign	0.31

Predicted Primers

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

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

Posted On

2013-04-16