Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Snapc4'

181486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snapc4

Ensembl Gene

ENSMUSG00000036281

Gene Name

small nuclear RNA activating complex, polypeptide 4

Synonyms

5730436L13Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

26362765-26380653 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 26366440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035427] [ENSMUST00000114115]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035427

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
low complexity region	33	52	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
coiled coil region	93	119	N/A	INTRINSIC
low complexity region	200	212	N/A	INTRINSIC
SANT	219	290	2.37e1	SMART
SANT	293	343	4.38e-10	SMART
SANT	345	397	3.05e-9	SMART
SANT	400	449	8.24e-15	SMART
SANT	452	501	7.8e-16	SMART
low complexity region	516	547	N/A	INTRINSIC
Blast:SANT	550	753	1e-23	BLAST
low complexity region	893	909	N/A	INTRINSIC
low complexity region	925	947	N/A	INTRINSIC
low complexity region	971	983	N/A	INTRINSIC
low complexity region	988	1007	N/A	INTRINSIC
low complexity region	1157	1169	N/A	INTRINSIC
low complexity region	1176	1190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114115

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
coiled coil region	3	29	N/A	INTRINSIC
low complexity region	41	60	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	101	127	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
SANT	227	298	2.37e1	SMART
SANT	301	351	4.38e-10	SMART
SANT	353	405	3.05e-9	SMART
SANT	408	457	8.24e-15	SMART
SANT	460	509	7.8e-16	SMART
low complexity region	524	555	N/A	INTRINSIC
Blast:SANT	558	761	1e-23	BLAST
low complexity region	901	917	N/A	INTRINSIC
low complexity region	933	955	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	996	1015	N/A	INTRINSIC
low complexity region	1165	1177	N/A	INTRINSIC
low complexity region	1184	1198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123934

SMART Domains

Protein: ENSMUSP00000122456
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
SANT	47	99	3.05e-9	SMART
SANT	102	151	8.24e-15	SMART
SANT	154	203	7.8e-16	SMART
low complexity region	218	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150121

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Snapc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Snapc4	APN	2	26369312	missense	probably benign
IGL01730:Snapc4	APN	2	26363724	splice site	probably null
IGL02354:Snapc4	APN	2	26367307	unclassified	probably benign
IGL02425:Snapc4	APN	2	26368200	missense	probably damaging	1.00
IGL02812:Snapc4	APN	2	26369372	missense	probably benign	0.03
IGL02951:Snapc4	APN	2	26370835	missense	probably benign	0.33
R0011:Snapc4	UTSW	2	26364813	missense	probably benign	0.03
R0409:Snapc4	UTSW	2	26367216	missense	probably benign	0.37
R0932:Snapc4	UTSW	2	26374646	missense	probably damaging	1.00
R1674:Snapc4	UTSW	2	26376197	missense	probably benign
R1878:Snapc4	UTSW	2	26376153	critical splice donor site	probably null
R3722:Snapc4	UTSW	2	26365428	missense	probably benign
R3886:Snapc4	UTSW	2	26365498	nonsense	probably null
R3887:Snapc4	UTSW	2	26365498	nonsense	probably null
R3888:Snapc4	UTSW	2	26365498	nonsense	probably null
R3889:Snapc4	UTSW	2	26365498	nonsense	probably null
R4638:Snapc4	UTSW	2	26365302	missense	probably damaging	1.00
R4663:Snapc4	UTSW	2	26374181	missense	possibly damaging	0.77
R4879:Snapc4	UTSW	2	26365992	missense	possibly damaging	0.93
R4922:Snapc4	UTSW	2	26369233	missense	probably benign
R5385:Snapc4	UTSW	2	26374503	missense	probably benign	0.44
R5525:Snapc4	UTSW	2	26369526	small deletion	probably benign
R5762:Snapc4	UTSW	2	26378606	missense	probably damaging	1.00
R5839:Snapc4	UTSW	2	26365534	missense	probably benign	0.01
R6300:Snapc4	UTSW	2	26378551	missense	probably benign	0.14
R6422:Snapc4	UTSW	2	26368303	missense	probably benign	0.00
R6843:Snapc4	UTSW	2	26373599	missense	probably benign	0.03
R7044:Snapc4	UTSW	2	26369953	missense	probably damaging	1.00
R7341:Snapc4	UTSW	2	26369261	missense	probably benign	0.01
R7727:Snapc4	UTSW	2	26373434	missense	probably damaging	1.00
R7941:Snapc4	UTSW	2	26376718	missense	probably damaging	0.98
R8277:Snapc4	UTSW	2	26365710	missense	probably benign	0.05
R8311:Snapc4	UTSW	2	26378534	missense	probably benign
R8323:Snapc4	UTSW	2	26364699	missense	probably benign	0.15
R8777:Snapc4	UTSW	2	26369363	missense	probably benign	0.00
R8777-TAIL:Snapc4	UTSW	2	26369363	missense	probably benign	0.00
R8855:Snapc4	UTSW	2	26374533	missense	probably damaging	1.00
R9069:Snapc4	UTSW	2	26370793	nonsense	probably null
R9362:Snapc4	UTSW	2	26364853	missense	probably damaging	0.99
R9718:Snapc4	UTSW	2	26378521	missense	probably damaging	1.00
R9780:Snapc4	UTSW	2	26377007	missense	possibly damaging	0.94
X0010:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0011:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0014:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0017:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0021:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0023:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0028:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0033:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0064:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
X0067:Snapc4	UTSW	2	26369961	missense	probably damaging	1.00
Z1176:Snapc4	UTSW	2	26368222	missense	probably damaging	1.00

Posted On

2014-05-07