Mutagenetix > Incidental Mutation

Incidental Mutation 'R9705:Snapc1'

729764

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9705 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73968376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 161 (K161N)

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: K161N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: K161N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,518,689	P110L	probably damaging	Het
Aff1	T	G	5: 103,784,410	L298R	possibly damaging	Het
B4galt1	T	C	4: 40,853,474	K111R	probably benign	Het
Brap	A	G	5: 121,663,310	T87A	probably benign	Het
C1qtnf6	T	A	15: 78,527,293	Q61L	probably benign	Het
Ccar2	C	A	14: 70,142,934	C399F	probably damaging	Het
Cdh15	C	A	8: 122,864,285	D424E	probably damaging	Het
Col4a4	G	A	1: 82,487,592	A954V	unknown	Het
Cul9	T	G	17: 46,543,300	T159P	probably damaging	Het
Cyp3a59	A	G	5: 146,096,310	E164G	probably benign	Het
Dnah11	A	C	12: 118,131,035	L766R	probably damaging	Het
Drd5	T	C	5: 38,320,684	V340A	probably damaging	Het
Ephb6	G	A	6: 41,619,781	E921K	probably benign	Het
Fam83e	G	A	7: 45,722,497	R106K	probably benign	Het
Fsip2	A	G	2: 82,993,290	T6456A	probably benign	Het
H2-M10.6	A	G	17: 36,812,750	N112S	probably benign	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hist1h2aa	A	G	13: 23,934,745	N95S	probably benign	Het
Hoxc9	T	A	15: 102,981,930	M93K	possibly damaging	Het
Hsd17b4	A	C	18: 50,191,724	K668T	probably benign	Het
Inpp4b	T	C	8: 82,046,261	V728A	probably benign	Het
Jph3	C	T	8: 121,782,174	R392W	probably damaging	Het
Krt79	T	G	15: 101,930,761	E424D	probably benign	Het
Mphosph10	T	C	7: 64,377,283	E594G	possibly damaging	Het
Mrm2	G	A	5: 140,331,235	R15W	probably damaging	Het
Neurl4	A	T	11: 69,908,853	D994V	probably damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Odam	T	A	5: 87,889,369	F141I	probably benign	Het
Olfr338	A	G	2: 36,376,950	Y58C	probably damaging	Het
Olfr681	T	A	7: 105,121,634	L59Q	probably damaging	Het
Pck1	T	A	2: 173,158,377	S534T	possibly damaging	Het
Pgm3	A	G	9: 86,555,361	F528L	probably benign	Het
Pi4ka	A	T	16: 17,281,951	I1936N		Het
Ptpn13	T	C	5: 103,533,355	L807S	possibly damaging	Het
Ramp2	T	A	11: 101,246,543	L31Q	possibly damaging	Het
Rars2	A	T	4: 34,646,561	K275N	possibly damaging	Het
Rusc2	A	C	4: 43,424,936	N1131T	probably benign	Het
Spag8	G	A	4: 43,652,366	H325Y	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Synpo2l	C	T	14: 20,660,921	V773M	probably damaging	Het
Syt3	A	G	7: 44,395,801	D519G	probably damaging	Het
Tacc2	A	G	7: 130,759,288	Y459C	probably damaging	Het
Tmem2	G	A	19: 21,807,424	V424I	probably damaging	Het
Trp53tg5	T	C	2: 164,471,288	S156G	probably benign	Het
Ubb	A	G	11: 62,552,549	Y135C	possibly damaging	Het
Vmn2r90	A	G	17: 17,712,777	I200V	possibly damaging	Het
Zfp27	C	A	7: 29,895,917	V208F	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
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

Predicted Primers

PCR Primer
(F):5'- GGATCCAATGTATTCACAGAGTGAC -3'
(R):5'- GCAGACTGTGGACAATGAATTG -3'

Sequencing Primer
(F):5'- ATGTATTCACAGAGTGACTTTTCTCC -3'
(R):5'- GTAACTGCTTGTTTTGAAAGTAACTG -3'

Posted On

2022-10-06