Mutagenetix > Incidental Mutations

Incidental Mutation 'R8809:Snapc1'

672299

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 #

R8809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73964481-73988966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73975038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 304 (S304P)

Ref Sequence

ENSEMBL: ENSMUSP00000021532 (fasta)

Gene Model

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

AlphaFold

Q8K0S9

Predicted Effect

probably benign
Transcript: ENSMUST00000021532
AA Change: S304P

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: S304P

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: S83P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000221556

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,714,979	V318I	probably benign	Het
Adam29	A	G	8: 55,872,624	I265T	probably benign	Het
AI464131	T	C	4: 41,498,812	T273A	probably benign	Het
Ankdd1a	A	T	9: 65,508,140		probably benign	Het
Arcn1	T	C	9: 44,743,962	T501A	possibly damaging	Het
B3gntl1	A	T	11: 121,630,864	F166I	possibly damaging	Het
Brap	T	C	5: 121,684,461	S467P	possibly damaging	Het
Cenpb	A	G	2: 131,178,402	V492A	unknown	Het
Ces1b	C	A	8: 93,060,320	G477V	probably damaging	Het
Ces1b	C	T	8: 93,060,321	G477R	probably damaging	Het
Cfap65	T	C	1: 74,903,223	K1724R	probably benign	Het
Chrd	A	T	16: 20,734,520	Q182L	probably benign	Het
Chrnb2	T	C	3: 89,757,150	T486A	probably benign	Het
Col25a1	A	T	3: 130,560,817		probably null	Het
Col4a1	A	G	8: 11,245,916	Y101H	unknown	Het
Crybg1	T	C	10: 44,003,432	T587A	probably damaging	Het
Ctnnal1	T	A	4: 56,835,374	N301I	possibly damaging	Het
Cyp2f2	A	T	7: 27,132,570	N417Y	probably damaging	Het
Dnah6	T	A	6: 73,032,563	E3800D	possibly damaging	Het
Ehmt2	C	A	17: 34,908,513	T906K	probably damaging	Het
Fbxo15	A	G	18: 84,960,075	H183R	possibly damaging	Het
Fgl1	T	A	8: 41,197,331	K194*	probably null	Het
Fxr1	G	A	3: 34,054,281	V314I	possibly damaging	Het
Hrnr	A	G	3: 93,332,136	Q3227R	unknown	Het
Ier5	G	A	1: 155,098,970	A154V	probably benign	Het
Igkc	T	G	6: 70,726,518	L28V		Het
Kcnh1	G	A	1: 192,221,414	G54D	probably damaging	Het
Kcnn1	C	T	8: 70,852,653		probably null	Het
Kif1bp	C	T	10: 62,559,712	D384N	possibly damaging	Het
Klra2	T	A	6: 131,220,235	N234I	possibly damaging	Het
Krtap4-9	T	C	11: 99,785,628	I125T	unknown	Het
Lrig2	T	C	3: 104,461,677	T897A	probably benign	Het
Lyve1	G	T	7: 110,853,792	T199K	probably damaging	Het
Napa	A	G	7: 16,112,626	D113G	possibly damaging	Het
Neurog1	GGTG	GGTGTG	13: 56,251,285		probably null	Het
Nf1	T	A	11: 79,547,138	H91Q	probably damaging	Het
Olfr1205	T	C	2: 88,831,912	M265T	probably benign	Het
Olfr180	T	A	16: 58,915,885	Y252F	probably damaging	Het
Olfr594	A	T	7: 103,220,239	N174Y	probably benign	Het
Olfr732	A	G	14: 50,281,779	I158T	probably benign	Het
Olfr828	A	G	9: 18,815,623	S224P	probably damaging	Het
Pccb	A	T	9: 100,985,167	Y455*	probably null	Het
Pdk2	A	T	11: 95,032,513	I95N	probably damaging	Het
Pik3c2g	G	A	6: 139,768,710	R196H		Het
Pkd1l2	A	G	8: 116,999,921	L2282P	probably damaging	Het
Plppr2	TCGCC	TC	9: 21,944,431		probably benign	Het
Prdm1	A	T	10: 44,439,753	S796T	probably benign	Het
Rb1	A	G	14: 73,265,560	F424L	probably damaging	Het
Retreg3	A	G	11: 101,102,026	L190P	probably damaging	Het
Rffl	A	G	11: 82,810,038	Y321H	probably damaging	Het
Rlbp1	A	G	7: 79,375,956	Y246H	probably damaging	Het
Rock2	T	A	12: 16,965,654		probably benign	Het
Slc17a3	C	A	13: 23,855,592	C244*	probably null	Het
Sp9	T	C	2: 73,273,675	L191P	probably damaging	Het
Spag17	A	T	3: 99,982,422	E202D	probably benign	Het
Ss18	A	G	18: 14,627,287	*419R	probably null	Het
Tacc2	A	G	7: 130,674,691	E1824G	possibly damaging	Het
Tacc3	T	A	5: 33,666,685		probably benign	Het
Tfap2a	A	T	13: 40,717,353	L353Q	probably damaging	Het
Ugt3a2	A	G	15: 9,367,259	I363V	possibly damaging	Het
Vmn1r158	A	G	7: 22,790,350	C145R	probably damaging	Het
Vmn1r23	A	T	6: 57,926,367	I142K	probably damaging	Het
Vmn2r15	A	T	5: 109,287,008	I610N	probably benign	Het
Wdr60	A	G	12: 116,229,614	S573P	probably damaging	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,793,580		probably benign	Het
Zbtb7c	T	C	18: 76,137,119	Y93H	probably damaging	Het
Zfp62	A	G	11: 49,216,411	N443S	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
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

Predicted Primers

PCR Primer
(F):5'- GACAGCAGCGGCATTTTAAC -3'
(R):5'- TAGTCCATCCTAGAAATAAAGGCC -3'

Sequencing Primer
(F):5'- GCATTTTAACCCAGCGTGAG -3'
(R):5'- TAGAAATAAAGGCCTACTCTCCAG -3'

Posted On

2021-04-30