Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Snapc4'

309632

Institutional Source

Beutler Lab

Gene Symbol

Snapc4

Ensembl Gene

ENSMUSG00000036281

Gene Name

small nuclear RNA activating complex, polypeptide 4

Synonyms

5730436L13Rik

MMRRC Submission

040798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26362765-26380653 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 26365498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1005 (Q1005*)

Ref Sequence

ENSEMBL: ENSMUSP00000109750 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 null
Transcript: ENSMUST00000035427
AA Change: Q997*

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: Q997*

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 null
Transcript: ENSMUST00000114115
AA Change: Q1005*

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: Q1005*

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: ENSMUST00000135171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149316

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,692,213	N331S	probably benign	Het
2410089E03Rik	T	A	15: 8,171,805	V22E	probably damaging	Het
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
Adam17	G	A	12: 21,325,587	R744C	probably damaging	Het
Adss	A	G	1: 177,767,769	Y402H	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,723	K360R	probably benign	Het
Ccdc73	A	T	2: 104,991,343	T546S	possibly damaging	Het
Cd22	T	C	7: 30,870,107	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,467,451	E183G	probably damaging	Het
Col6a5	A	G	9: 105,930,930	L973P	unknown	Het
Cp	T	C	3: 19,989,111	L1021P	probably damaging	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,142,698	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,858,077	N376S	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,168,458	V310M	probably damaging	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Gm8674	T	C	13: 49,902,163		noncoding transcript	Het
Ice1	T	C	13: 70,605,370	T866A	probably benign	Het
Jade2	C	T	11: 51,830,499	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,710,415	S504P	probably damaging	Het
Kcng4	T	C	8: 119,633,247	K130R	probably benign	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lrch2	C	G	X: 147,473,007	A437P	probably damaging	Het
Lrrk1	C	T	7: 66,292,364	V709I	probably damaging	Het
Mdh1	A	G	11: 21,559,832	V181A	probably damaging	Het
Olfr1243	T	A	2: 89,527,732	H226L	possibly damaging	Het
Olfr978	A	G	9: 39,994,539	H243R	probably damaging	Het
Papd5	C	A	8: 88,200,415	A151E	probably benign	Het
Ppp1r3a	A	C	6: 14,719,912	D334E	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424	S207G	probably benign	Het
Robo3	G	A	9: 37,422,181	Q723*	probably null	Het
Rreb1	G	A	13: 37,898,506		probably null	Het
Slc35f2	T	A	9: 53,816,957	S372T	probably benign	Het
Slitrk5	T	A	14: 111,679,797	C284*	probably null	Het
Tnxb	A	G	17: 34,718,911	D3896G	probably damaging	Het
Tti1	A	G	2: 158,008,950	V123A	possibly damaging	Het
Usp1	T	C	4: 98,929,736	C147R	probably damaging	Het
Vill	A	G	9: 119,066,714	N106S	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGGACAGAGAGCAACTTCTG -3'
(R):5'- TAGAACTCTCTGTACCTGTGGC -3'

Sequencing Primer
(F):5'- ACTTCTGAGTTGTGAGAACCC -3'
(R):5'- ATGGTCAGTTCAAGTCCTTCTGGC -3'

Posted On

2015-04-17