Mutagenetix > Incidental Mutation

Incidental Mutation 'R5385:Snapc4'

425032

Institutional Source

Beutler Lab

Gene Symbol

Snapc4

Ensembl Gene

ENSMUSG00000036281

Gene Name

small nuclear RNA activating complex, polypeptide 4

Synonyms

5730436L13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26252777-26270665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26264515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 275 (S275P)

Ref Sequence

ENSEMBL: ENSMUSP00000109750 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035427
AA Change: S267P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: S267P

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: S275P

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: S275P

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: ENSMUST00000124843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149316

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,421,446 (GRCm39)	T175A	probably benign	Het
Adam23	A	G	1: 63,590,970 (GRCm39)	D479G	possibly damaging	Het
Adgrl3	T	G	5: 81,874,648 (GRCm39)	Y1050D	probably damaging	Het
Ago4	A	G	4: 126,411,349 (GRCm39)	I103T	probably benign	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Alyref2	A	G	1: 171,331,271 (GRCm39)	N16S	probably benign	Het
Ankhd1	A	G	18: 36,724,548 (GRCm39)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Ap2b1	T	C	11: 83,233,427 (GRCm39)	V480A	probably damaging	Het
Arhgap30	A	G	1: 171,235,848 (GRCm39)	R741G	probably benign	Het
Canx	A	G	11: 50,192,639 (GRCm39)	L325P	probably damaging	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cdc37l1	T	G	19: 28,989,343 (GRCm39)	S267A	possibly damaging	Het
Cert1	A	G	13: 96,765,575 (GRCm39)	T447A	possibly damaging	Het
Ces1f	A	T	8: 93,992,388 (GRCm39)	C354*	probably null	Het
Cpne1	A	T	2: 155,916,284 (GRCm39)	V350D	probably damaging	Het
Ctdsp2	A	G	10: 126,832,326 (GRCm39)	T262A	probably benign	Het
Cypt4	A	G	9: 24,536,596 (GRCm39)	K29E	possibly damaging	Het
Dlg2	T	C	7: 91,737,784 (GRCm39)	V422A	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnah3	T	A	7: 119,524,126 (GRCm39)	K3953N	probably damaging	Het
Dnmt1	A	G	9: 20,829,776 (GRCm39)	V647A	probably damaging	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm39)	D3573G	probably damaging	Het
Ears2	G	C	7: 121,643,600 (GRCm39)	T426S	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fat3	A	T	9: 15,833,971 (GRCm39)	L4207Q	possibly damaging	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Fer1l4	G	A	2: 155,879,286 (GRCm39)	Q906*	probably null	Het
Fpr2	C	A	17: 18,113,309 (GRCm39)	H102N	probably benign	Het
Gm10134	T	A	2: 28,396,372 (GRCm39)		probably benign	Het
Gpr107	A	G	2: 31,104,263 (GRCm39)	T523A	probably benign	Het
Grin3a	G	A	4: 49,719,313 (GRCm39)	P811L	probably damaging	Het
Hivep1	A	T	13: 42,317,871 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,350,333 (GRCm39)	T5077A	probably benign	Het
Hpse	C	T	5: 100,856,590 (GRCm39)	W136*	probably null	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Ifnar2	T	A	16: 91,201,086 (GRCm39)	D442E	possibly damaging	Het
Jade1	T	A	3: 41,546,137 (GRCm39)	I54N	probably damaging	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kcnh4	T	C	11: 100,643,076 (GRCm39)	D397G	probably damaging	Het
Kcnj1	A	G	9: 32,308,019 (GRCm39)	R148G	probably damaging	Het
Lct	T	G	1: 128,239,354 (GRCm39)	K277N	possibly damaging	Het
Loxl3	A	G	6: 83,027,593 (GRCm39)	M712V	probably damaging	Het
Ly75	A	G	2: 60,133,985 (GRCm39)	C1547R	probably damaging	Het
Marcks	A	G	10: 37,014,453 (GRCm39)	S27P	probably damaging	Het
Mef2c	A	G	13: 83,810,532 (GRCm39)	T347A	probably benign	Het
Mmp3	C	T	9: 7,451,759 (GRCm39)	R366*	probably null	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Msc	C	A	1: 14,825,644 (GRCm39)	R110L	probably damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Myh11	A	T	16: 14,025,872 (GRCm39)	V1366D	possibly damaging	Het
Ncf1	A	G	5: 134,250,659 (GRCm39)	L373P	probably damaging	Het
Neb	A	T	2: 52,079,873 (GRCm39)	I85N	probably damaging	Het
Nfkb1	A	G	3: 135,318,303 (GRCm39)	V310A	possibly damaging	Het
Nop2	T	C	6: 125,121,324 (GRCm39)	V702A	probably benign	Het
Nudt12	A	G	17: 59,310,434 (GRCm39)	W390R	probably damaging	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or10v9	T	A	19: 11,832,541 (GRCm39)	I259F	probably damaging	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or1af1	G	T	2: 37,109,599 (GRCm39)	A33S	possibly damaging	Het
Or51e1	T	C	7: 102,358,553 (GRCm39)	L29P	probably damaging	Het
Or6c208	A	G	10: 129,223,633 (GRCm39)	I44V	probably benign	Het
Or6n2	A	T	1: 173,897,036 (GRCm39)	K57N	probably benign	Het
Or8a1b	A	T	9: 37,623,317 (GRCm39)	V86E	probably damaging	Het
Or8c11	A	T	9: 38,289,281 (GRCm39)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,751,126 (GRCm39)	Y132C	possibly damaging	Het
Otub2	G	A	12: 103,359,055 (GRCm39)		probably benign	Het
Pck2	A	G	14: 55,782,688 (GRCm39)	E339G	probably damaging	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pdpk1	G	A	17: 24,317,114 (GRCm39)	Q250*	probably null	Het
Pigb	T	A	9: 72,946,827 (GRCm39)	H16L	probably benign	Het
Pitpnm1	T	C	19: 4,153,435 (GRCm39)	F197S	probably damaging	Het
Plekhh2	T	C	17: 84,864,894 (GRCm39)	V94A	probably benign	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Pomt1	C	G	2: 32,134,311 (GRCm39)	Y277*	probably null	Het
Prex2	A	G	1: 11,210,204 (GRCm39)	D548G	probably damaging	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Riox2	T	A	16: 59,306,979 (GRCm39)	M290K	probably benign	Het
Rnpepl1	T	A	1: 92,844,914 (GRCm39)	L402Q	probably damaging	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sesn2	A	G	4: 132,226,575 (GRCm39)	I173T	probably damaging	Het
Setx	T	G	2: 29,024,045 (GRCm39)		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc13a5	T	A	11: 72,149,903 (GRCm39)	E159D	probably benign	Het
Slc16a7	A	G	10: 125,130,473 (GRCm39)	Y71H	possibly damaging	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Slc4a7	T	C	14: 14,773,345 (GRCm38)	F772L	possibly damaging	Het
Sorl1	T	C	9: 41,968,580 (GRCm39)	T558A	possibly damaging	Het
Sspo	C	T	6: 48,439,187 (GRCm39)	P1612S	probably benign	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Syne1	C	T	10: 4,991,494 (GRCm39)	V557I	probably benign	Het
Tanc2	T	A	11: 105,667,672 (GRCm39)	D84E	probably damaging	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tfip11	T	C	5: 112,479,086 (GRCm39)		probably null	Het
Thtpa	G	T	14: 55,333,290 (GRCm39)	R125L	probably damaging	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tmcc3	A	T	10: 94,415,015 (GRCm39)	N239I	probably damaging	Het
Tpd52	A	T	3: 8,996,255 (GRCm39)		probably null	Het
Traf6	T	A	2: 101,515,100 (GRCm39)	C85*	probably null	Het
Trim68	T	G	7: 102,327,990 (GRCm39)	D321A	probably damaging	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Ttbk1	T	C	17: 46,758,558 (GRCm39)	D692G	probably benign	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Ttc6	T	A	12: 57,689,821 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,660 (GRCm39)		probably null	Het
Txnrd2	T	G	16: 18,296,442 (GRCm39)	I468S	probably damaging	Het
Ube2b	A	T	11: 51,879,471 (GRCm39)	Y100N	probably damaging	Het
Ucn3	A	T	13: 3,991,474 (GRCm39)	F59L	probably benign	Het
Uggt1	A	G	1: 36,223,493 (GRCm39)	Y599H	probably damaging	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vav3	A	G	3: 109,434,791 (GRCm39)	M441V	possibly damaging	Het
Vmn2r1	T	A	3: 64,008,819 (GRCm39)	D499E	possibly damaging	Het
Vmn2r118	C	T	17: 55,918,565 (GRCm39)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,416,931 (GRCm39)	M76L	probably benign	Het
Vwa3a	A	G	7: 120,389,365 (GRCm39)	K68E	possibly damaging	Het
Zmiz1	A	T	14: 25,650,237 (GRCm39)	Y459F	probably damaging	Het

Other mutations in Snapc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Snapc4	APN	2	26,259,324 (GRCm39)	missense	probably benign
IGL01730:Snapc4	APN	2	26,253,736 (GRCm39)	splice site	probably null
IGL01958:Snapc4	APN	2	26,256,452 (GRCm39)	unclassified	probably benign
IGL02354:Snapc4	APN	2	26,257,319 (GRCm39)	unclassified	probably benign
IGL02425:Snapc4	APN	2	26,258,212 (GRCm39)	missense	probably damaging	1.00
IGL02812:Snapc4	APN	2	26,259,384 (GRCm39)	missense	probably benign	0.03
IGL02951:Snapc4	APN	2	26,260,847 (GRCm39)	missense	probably benign	0.33
R0011:Snapc4	UTSW	2	26,254,825 (GRCm39)	missense	probably benign	0.03
R0409:Snapc4	UTSW	2	26,257,228 (GRCm39)	missense	probably benign	0.37
R0932:Snapc4	UTSW	2	26,264,658 (GRCm39)	missense	probably damaging	1.00
R1674:Snapc4	UTSW	2	26,266,209 (GRCm39)	missense	probably benign
R1878:Snapc4	UTSW	2	26,266,165 (GRCm39)	critical splice donor site	probably null
R3722:Snapc4	UTSW	2	26,255,440 (GRCm39)	missense	probably benign
R3886:Snapc4	UTSW	2	26,255,510 (GRCm39)	nonsense	probably null
R3887:Snapc4	UTSW	2	26,255,510 (GRCm39)	nonsense	probably null
R3888:Snapc4	UTSW	2	26,255,510 (GRCm39)	nonsense	probably null
R3889:Snapc4	UTSW	2	26,255,510 (GRCm39)	nonsense	probably null
R4638:Snapc4	UTSW	2	26,255,314 (GRCm39)	missense	probably damaging	1.00
R4663:Snapc4	UTSW	2	26,264,193 (GRCm39)	missense	possibly damaging	0.77
R4879:Snapc4	UTSW	2	26,256,004 (GRCm39)	missense	possibly damaging	0.93
R4922:Snapc4	UTSW	2	26,259,245 (GRCm39)	missense	probably benign
R5525:Snapc4	UTSW	2	26,259,538 (GRCm39)	small deletion	probably benign
R5762:Snapc4	UTSW	2	26,268,618 (GRCm39)	missense	probably damaging	1.00
R5839:Snapc4	UTSW	2	26,255,546 (GRCm39)	missense	probably benign	0.01
R6300:Snapc4	UTSW	2	26,268,563 (GRCm39)	missense	probably benign	0.14
R6422:Snapc4	UTSW	2	26,258,315 (GRCm39)	missense	probably benign	0.00
R6843:Snapc4	UTSW	2	26,263,611 (GRCm39)	missense	probably benign	0.03
R7044:Snapc4	UTSW	2	26,259,965 (GRCm39)	missense	probably damaging	1.00
R7341:Snapc4	UTSW	2	26,259,273 (GRCm39)	missense	probably benign	0.01
R7727:Snapc4	UTSW	2	26,263,446 (GRCm39)	missense	probably damaging	1.00
R7941:Snapc4	UTSW	2	26,266,730 (GRCm39)	missense	probably damaging	0.98
R8277:Snapc4	UTSW	2	26,255,722 (GRCm39)	missense	probably benign	0.05
R8311:Snapc4	UTSW	2	26,268,546 (GRCm39)	missense	probably benign
R8323:Snapc4	UTSW	2	26,254,711 (GRCm39)	missense	probably benign	0.15
R8777:Snapc4	UTSW	2	26,259,375 (GRCm39)	missense	probably benign	0.00
R8777-TAIL:Snapc4	UTSW	2	26,259,375 (GRCm39)	missense	probably benign	0.00
R8855:Snapc4	UTSW	2	26,264,545 (GRCm39)	missense	probably damaging	1.00
R9069:Snapc4	UTSW	2	26,260,805 (GRCm39)	nonsense	probably null
R9362:Snapc4	UTSW	2	26,254,865 (GRCm39)	missense	probably damaging	0.99
R9718:Snapc4	UTSW	2	26,268,533 (GRCm39)	missense	probably damaging	1.00
R9780:Snapc4	UTSW	2	26,267,019 (GRCm39)	missense	possibly damaging	0.94
X0010:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0011:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0014:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0017:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0021:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0023:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0028:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0033:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0064:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
X0067:Snapc4	UTSW	2	26,259,973 (GRCm39)	missense	probably damaging	1.00
Z1176:Snapc4	UTSW	2	26,258,234 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCCAATGGAGTCCTTTGC -3'
(R):5'- AAACAGAGCCGAGTCTCCAG -3'

Sequencing Primer
(F):5'- AATGGAGTCCTTTGCCACCTC -3'
(R):5'- TCTCCAGTGAGTTGGAAAGGC -3'

Posted On

2016-08-04