Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Snapc4'

675214

Institutional Source

Beutler Lab

Gene Symbol

Snapc4

Ensembl Gene

ENSMUSG00000036281

Gene Name

small nuclear RNA activating complex, polypeptide 4

Synonyms

5730436L13Rik

MMRRC Submission

068736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26252777-26270665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26264545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 265 (R265W)

Ref Sequence

ENSEMBL: ENSMUSP00000109750 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035427
AA Change: R257W

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

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: R257W

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 damaging
Transcript: ENSMUST00000114115
AA Change: R265W

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

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: R265W

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: 98.8%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Ace	T	A	11: 105,861,424 (GRCm39)	L191*	probably null	Het
Ahctf1	G	A	1: 179,614,341 (GRCm39)	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,466,869 (GRCm39)		probably null	Het
Angptl6	T	A	9: 20,786,940 (GRCm39)	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
B4galnt4	G	A	7: 140,648,488 (GRCm39)	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,218,887 (GRCm39)	D623E	probably damaging	Het
Cenpf	C	A	1: 189,385,430 (GRCm39)	K2283N	probably benign	Het
Clec16a	A	T	16: 10,462,731 (GRCm39)	D683V	probably damaging	Het
Clvs2	T	C	10: 33,404,400 (GRCm39)	D272G	probably benign	Het
Cnksr1	A	G	4: 133,959,494 (GRCm39)	V380A	probably damaging	Het
Col20a1	C	A	2: 180,655,684 (GRCm39)	P42T		Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dennd4a	G	A	9: 64,819,672 (GRCm39)	G1761D	probably benign	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,879,191 (GRCm39)	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Flt1	A	T	5: 147,507,682 (GRCm39)	D1209E	probably benign	Het
Flt1	A	T	5: 147,618,460 (GRCm39)	N260K	probably damaging	Het
Fras1	A	G	5: 96,917,465 (GRCm39)	H3495R		Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573 (GRCm39)	C270*	probably null	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,244,880 (GRCm39)	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,885,721 (GRCm39)	D44G	probably benign	Het
Hap1	C	A	11: 100,246,864 (GRCm39)	G14W	probably damaging	Het
Hcn4	T	A	9: 58,765,387 (GRCm39)	I623N	unknown	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,754,237 (GRCm39)	L1622Q	unknown	Het
Lipi	T	A	16: 75,355,481 (GRCm39)	D343V	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mamstr	A	T	7: 45,294,403 (GRCm39)	D419V	probably benign	Het
Map2k7	C	T	8: 4,293,594 (GRCm39)	T119I	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Mrps24	A	T	11: 5,654,642 (GRCm39)	L104Q	probably damaging	Het
Myh1	T	A	11: 67,102,247 (GRCm39)	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,025,840 (GRCm39)	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,609,655 (GRCm39)		probably null	Het
Numa1	G	C	7: 101,639,835 (GRCm39)	D62H	possibly damaging	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or52e19	T	A	7: 102,959,168 (GRCm39)	I80N	probably damaging	Het
Or52p2	G	T	7: 102,237,945 (GRCm39)	Q2K	probably benign	Het
Or8b12c	C	G	9: 37,715,709 (GRCm39)	F167L	probably damaging	Het
Pag1	T	C	3: 9,764,529 (GRCm39)	K208R	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,069,526 (GRCm39)	T144A	probably benign	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Pramel14	A	T	4: 143,720,905 (GRCm39)	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,334,235 (GRCm39)	D230G	probably benign	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Sec16a	G	A	2: 26,329,852 (GRCm39)	T721I	probably benign	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Sgk1	T	G	10: 21,871,726 (GRCm39)	S181A	probably benign	Het
Slc25a10	T	C	11: 120,385,795 (GRCm39)	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Taar1	C	T	10: 23,796,976 (GRCm39)	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Trank1	T	C	9: 111,141,289 (GRCm39)	V127A	unknown	Het
Trim66	G	T	7: 109,081,188 (GRCm39)	H244N	probably damaging	Het
Tshz2	T	A	2: 169,728,425 (GRCm39)	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfand1	T	C	3: 10,405,811 (GRCm39)	D264G	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	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
R5385:Snapc4	UTSW	2	26,264,515 (GRCm39)	missense	probably benign	0.44
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
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'- ACTCCCAGGCATCTTTGGAC -3'
(R):5'- TTGCAGGCTGGAGTACTTACAC -3'

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

Posted On

2021-07-15