Mutagenetix > Incidental Mutations

Incidental Mutation 'R0113:Snapc1'

20601

Institutional Source

Beutler Lab

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik

MMRRC Submission

038399-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0113 (G1)

Quality Score

223

Status

Validated (trace)

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: 99.2%
3x: 98.1%
10x: 95.2%
20x: 87.5%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	A	G	8: 10,926,126		noncoding transcript	Het
4930432K21Rik	C	T	8: 84,167,242	T311I	probably damaging	Het
Abca13	A	T	11: 9,292,114	I1326F	possibly damaging	Het
Arnt2	G	A	7: 84,347,530	R63C	probably damaging	Het
Aspscr1	C	G	11: 120,688,925	Q97E	probably damaging	Het
Atad2	A	G	15: 58,120,934		probably benign	Het
Atcay	A	T	10: 81,214,720		probably null	Het
C4b	T	A	17: 34,741,240	Y279F	probably damaging	Het
Cav1	A	T	6: 17,308,049	S67C	possibly damaging	Het
Celf2	A	C	2: 6,624,714	H113Q	probably damaging	Het
Cep170	A	C	1: 176,758,455	N590K	probably damaging	Het
Ces1f	A	T	8: 93,279,699	M1K	probably null	Het
Chrna1	C	A	2: 73,566,836	D370Y	possibly damaging	Het
Csmd1	C	A	8: 15,984,849	G2441C	probably damaging	Het
D630003M21Rik	C	T	2: 158,196,575	D984N	possibly damaging	Het
Dhrs1	T	C	14: 55,739,939	T241A	probably benign	Het
Edar	A	C	10: 58,629,449	C31G	probably damaging	Het
Eps8	A	G	6: 137,537,684	S24P	possibly damaging	Het
Fam149a	T	C	8: 45,341,024	E669G	probably damaging	Het
Fcrla	A	T	1: 170,922,299	M1K	probably null	Het
G3bp1	T	A	11: 55,495,426	V237E	probably benign	Het
Galnt5	A	G	2: 57,998,877	E163G	probably benign	Het
Gm5155	G	A	7: 17,908,948		noncoding transcript	Het
Gpr87	T	C	3: 59,179,511	D192G	possibly damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Ints1	T	C	5: 139,765,213	T810A		Het
Kalrn	A	G	16: 34,049,936		probably benign	Het
Kcnk6	T	C	7: 29,232,209	D92G	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mfsd6	A	T	1: 52,709,189	N172K	probably damaging	Het
Mtcl1	G	T	17: 66,354,242	Q1225K	possibly damaging	Het
Nav2	C	T	7: 49,535,953	T948M	probably damaging	Het
Nfic	T	C	10: 81,420,585	K104E	probably damaging	Het
Nupl1	G	A	14: 60,251,291		probably benign	Het
Nwd2	A	T	5: 63,807,898	K1608N	probably damaging	Het
Olfr148	T	A	9: 39,614,002	I145K	probably benign	Het
Olfr50	G	A	2: 36,793,994	G253R	probably damaging	Het
Olfr50	G	T	2: 36,793,995	G253V	probably damaging	Het
Phf21b	T	C	15: 84,804,767	D186G	probably damaging	Het
Poli	C	T	18: 70,528,758	C57Y	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Psg23	T	C	7: 18,612,002	Y256C	probably benign	Het
Satb1	C	A	17: 51,782,698	E374*	probably null	Het
Scn4a	C	T	11: 106,345,436	E333K	probably benign	Het
Sec14l2	C	T	11: 4,103,661		probably benign	Het
Slain1	T	C	14: 103,685,825		probably benign	Het
Syne2	T	C	12: 75,930,578	S1266P	probably damaging	Het
Syne2	A	G	12: 76,033,722	E4810G	probably damaging	Het
Tbck	T	C	3: 132,743,080	I618T	probably damaging	Het
Tmem132d	A	T	5: 127,784,593	N821K	probably benign	Het
Trim28	T	A	7: 13,028,701	V381E	probably damaging	Het
Ttc1	T	C	11: 43,745,288	S43G	probably benign	Het
Ube2u	A	G	4: 100,481,655	E39G	possibly damaging	Het
Urb2	T	C	8: 124,030,926	V1124A	probably benign	Het
Usp13	A	G	3: 32,817,876		probably benign	Het
Vmn1r216	A	T	13: 23,099,461	S105C	probably damaging	Het
Yipf2	T	C	9: 21,590,116	T23A	probably damaging	Het
Zfp521	G	A	18: 13,845,091	T755M	probably damaging	Het
Zfp619	T	A	7: 39,537,759	M1071K	probably benign	Het
Zfp942	A	T	17: 21,929,085	C188S	probably benign	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
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

Predicted Primers

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

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

Posted On

2013-04-11