Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02309:Snapc1'

287747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snapc1

Ensembl Gene

ENSMUSG00000021113

Gene Name

small nuclear RNA activating complex, polypeptide 1

Synonyms

2700033G17Rik, 9630050P21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02309

Quality Score

Status

Chromosome

Chromosomal Location

74011255-74035740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74014801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 102 (Y102C)

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: Y102C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: Y102C

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

unknown
Transcript: ENSMUST00000221833
AA Change: Y89C

Predicted Effect

probably benign
Transcript: ENSMUST00000222025

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,193,125 (GRCm39)	F111S	probably benign	Het
Afg1l	C	A	10: 42,330,374 (GRCm39)	V98F	possibly damaging	Het
Agk	T	A	6: 40,353,210 (GRCm39)	D191E	possibly damaging	Het
Akap5	A	G	12: 76,375,629 (GRCm39)	K354E	possibly damaging	Het
Aplp2	A	T	9: 31,078,979 (GRCm39)	M323K	possibly damaging	Het
Arhgap23	T	C	11: 97,356,827 (GRCm39)		probably benign	Het
Asl	A	G	5: 130,048,622 (GRCm39)	Y30H	probably damaging	Het
Asxl3	T	A	18: 22,655,510 (GRCm39)	H1173Q	probably benign	Het
Celsr2	C	T	3: 108,303,327 (GRCm39)	R2472H	probably damaging	Het
Clip1	T	A	5: 123,755,763 (GRCm39)	H950L	probably damaging	Het
Cx3cl1	A	T	8: 95,506,660 (GRCm39)	T222S	probably benign	Het
Cyp4a14	T	A	4: 115,348,829 (GRCm39)	N273Y	probably damaging	Het
Ddx52	T	A	11: 83,839,304 (GRCm39)	S214T	probably damaging	Het
Dennd2d	T	A	3: 106,402,284 (GRCm39)	M318K	probably benign	Het
Dock3	A	T	9: 106,790,351 (GRCm39)	D1E	probably damaging	Het
Farp1	C	T	14: 121,480,928 (GRCm39)	T443I	probably benign	Het
Gm2381	C	T	7: 42,472,033 (GRCm39)		probably benign	Het
Gpr87	T	A	3: 59,086,975 (GRCm39)	I178F	possibly damaging	Het
Grin2b	C	T	6: 135,713,470 (GRCm39)	E804K	probably damaging	Het
Gtf2h1	T	C	7: 46,465,812 (GRCm39)	L421P	probably damaging	Het
Haghl	T	G	17: 26,003,638 (GRCm39)	H56P	probably damaging	Het
Heatr3	T	C	8: 88,893,700 (GRCm39)	L489P	probably damaging	Het
Ighv6-6	A	T	12: 114,398,534 (GRCm39)	H77Q	probably benign	Het
Kdm2b	A	G	5: 123,085,883 (GRCm39)	S243P	probably damaging	Het
Lamc3	T	C	2: 31,804,616 (GRCm39)		probably benign	Het
Lgr4	T	C	2: 109,842,880 (GRCm39)		probably benign	Het
Lhx3	T	C	2: 26,091,385 (GRCm39)	Q308R	probably benign	Het
Lonp2	G	A	8: 87,361,491 (GRCm39)	E223K	probably damaging	Het
Lta4h	T	C	10: 93,310,352 (GRCm39)	F407L	probably damaging	Het
Mndal	C	T	1: 173,702,021 (GRCm39)	G94R	probably damaging	Het
Nrxn3	A	G	12: 89,943,175 (GRCm39)	N101S	probably damaging	Het
Or14c41	T	C	7: 86,234,705 (GRCm39)	V74A	possibly damaging	Het
Or51af1	A	T	7: 103,141,206 (GRCm39)	I293K	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8b48	A	G	9: 38,492,729 (GRCm39)	N52S	probably damaging	Het
Or8d23	A	G	9: 38,842,348 (GRCm39)	N294D	probably damaging	Het
Pknox1	T	G	17: 31,809,683 (GRCm39)	F96V	probably benign	Het
Psg25	T	G	7: 18,260,349 (GRCm39)	Q183P	probably damaging	Het
Ptgs2	A	G	1: 149,981,307 (GRCm39)	Y530C	probably damaging	Het
Sema3e	T	A	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Shank1	G	A	7: 43,962,266 (GRCm39)	G46R	unknown	Het
Sidt1	T	C	16: 44,075,343 (GRCm39)	I672V	probably benign	Het
Skic3	A	G	13: 76,275,166 (GRCm39)	T238A	possibly damaging	Het
Slco1b2	T	A	6: 141,618,007 (GRCm39)	S486T	probably damaging	Het
Smchd1	T	C	17: 71,750,898 (GRCm39)	H340R	probably benign	Het
Smoc2	C	A	17: 14,595,789 (GRCm39)		probably benign	Het
Spo11	A	G	2: 172,821,744 (GRCm39)	R20G	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tmem229b-ps	T	C	10: 53,351,466 (GRCm39)		noncoding transcript	Het
Trim12c	T	A	7: 103,994,163 (GRCm39)	E230D	possibly damaging	Het
Ttc17	G	T	2: 94,173,006 (GRCm39)	N796K	probably benign	Het
Ttn	A	G	2: 76,709,443 (GRCm39)		probably benign	Het
Ublcp1	A	T	11: 44,349,155 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,021,026 (GRCm39)	T11M	probably benign	Het
Vmn2r115	T	A	17: 23,564,113 (GRCm39)	M95K	probably benign	Het
Wapl	A	G	14: 34,466,820 (GRCm39)	T1160A	probably 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
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
R0056: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
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

Posted On

2015-04-16