Mutagenetix > Incidental Mutations

Incidental Mutation 'R8277:Snapc4'

638010

Institutional Source

Beutler Lab

Gene Symbol

Snapc4

Ensembl Gene

ENSMUSG00000036281

Gene Name

small nuclear RNA activating complex, polypeptide 4

Synonyms

5730436L13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26362765-26380653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26365710 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 934 (V934A)

Ref Sequence

ENSEMBL: ENSMUSP00000109750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000035427] [ENSMUST00000114115]

Predicted Effect

probably benign
Transcript: ENSMUST00000028294

SMART Domains

Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	3.1e-21	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035427
AA Change: V926A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: V926A

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
AA Change: V934A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: V934A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	A	19: 57,215,919	L13F	probably benign	Het
Apoe	C	T	7: 19,698,378		probably benign	Het
Arap2	A	G	5: 62,613,992		probably null	Het
Aspm	T	C	1: 139,455,010	S27P	probably damaging	Het
Atcay	C	A	10: 81,214,812	D90Y	probably damaging	Het
Cd46	A	T	1: 195,064,722	D327E	probably damaging	Het
Cfh	A	G	1: 140,101,609	W1001R	probably damaging	Het
Chrm2	G	A	6: 36,523,276	V23M	probably benign	Het
Col1a2	G	A	6: 4,516,410	G175R	probably null	Het
Ddx52	T	C	11: 83,955,114	S422P	probably damaging	Het
Gucy2d	T	A	7: 98,443,475	W20R	probably benign	Het
Hao2	A	G	3: 98,880,384	I243T	probably damaging	Het
Hmcn2	A	C	2: 31,369,177	T1010P	probably benign	Het
Iqcf1	T	C	9: 106,501,878	S29P	probably benign	Het
Kat2b	T	A	17: 53,641,253	D350E	probably benign	Het
Lingo4	A	G	3: 94,402,624	S290G	possibly damaging	Het
Mmrn1	A	G	6: 60,977,236	T834A	probably benign	Het
Mro	A	T	18: 73,864,061		probably benign	Het
Mrps26	T	A	2: 130,564,427	L160Q	probably damaging	Het
Myh8	T	C	11: 67,292,909	I788T	probably benign	Het
Nab2	G	A	10: 127,665,299		probably benign	Het
Nr2c2ap	C	T	8: 70,132,481	Q67*	probably null	Het
Olfr404-ps1	C	T	11: 74,240,016	L151F	probably benign	Het
Pask	C	T	1: 93,325,363		probably null	Het
Pcnx2	A	T	8: 125,866,016	S736R	probably damaging	Het
Per2	G	T	1: 91,420,552	D1109E	probably benign	Het
Plxna1	G	A	6: 89,357,180	H156Y	probably damaging	Het
Polr2a	G	A	11: 69,748,056	R51C	probably damaging	Het
Rbpms2	T	A	9: 65,649,413	F45Y	probably damaging	Het
Rmdn3	T	C	2: 119,146,424	D276G	probably damaging	Het
Sdccag3	G	A	2: 26,384,766	A373V	probably damaging	Het
Sept2	T	A	1: 93,499,308	I171K	probably benign	Het
Serpinb3a	C	A	1: 107,046,240	G314C	probably damaging	Het
Slc35f3	T	A	8: 126,389,186	V284D	possibly damaging	Het
Tctn1	A	G	5: 122,264,368	M1T	probably null	Het
Tgoln1	G	A	6: 72,616,855		probably benign	Het
Unc5c	G	A	3: 141,768,612		probably null	Het
Vmn2r11	A	T	5: 109,054,967	F81L	probably benign	Het
Vmn2r15	A	T	5: 109,293,104	V296E	probably benign	Het
Vmn2r15	C	T	5: 109,293,444	D183N	probably damaging	Het
Wdr34	A	G	2: 30,033,874	V213A	probably benign	Het
Zfp763	T	C	17: 33,033,320		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
IGL01958:Snapc4	APN	2	26366440	unclassified	probably benign
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
R8311:Snapc4	UTSW	2	26378534	missense	probably benign
R8323:Snapc4	UTSW	2	26364699	missense	probably benign	0.15
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTAGAGTACTCAGATGGCC -3'
(R):5'- AGACTGTTTCTGAGCTGCTTCG -3'

Sequencing Primer
(F):5'- AGTACTCAGATGGCCGCCTG -3'
(R):5'- AGGCTCTTGGTCTCAACA -3'

Posted On

2020-07-28