Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Snapc4'

569820

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 #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26362765-26380653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26369261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 626 (S626T)

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: S618T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: S618T

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: S626T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: S626T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam3	T	A	8: 24,687,980	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,556,874	C756S	probably damaging	Het
AI314180	A	T	4: 58,809,415	V1653D	possibly damaging	Het
Arhgap31	C	T	16: 38,712,514		probably null	Het
Ascl4	G	A	10: 85,928,665	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,981,759	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,223,116	L923I	probably damaging	Het
BC067074	G	T	13: 113,318,172	G251C		Het
Birc6	T	A	17: 74,612,074	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,788,857	N3025S	probably benign	Het
Bub1b	C	A	2: 118,636,786	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,577,452	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,280,627	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,526,713	N437K	probably benign	Het
Cdhr2	T	A	13: 54,719,492	L408Q	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Chd1	T	C	17: 15,770,237	S1684P	probably damaging	Het
CN725425	A	G	15: 91,242,670	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,398,678	V66A	probably damaging	Het
Cpd	C	A	11: 76,846,953	R5L	unknown	Het
Cpeb4	C	T	11: 31,918,807	T422I	possibly damaging	Het
Cyp1a1	G	T	9: 57,700,824	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,486,954	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,321,750	F122L	probably benign	Het
Drc1	T	A	5: 30,364,468	L728Q	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Ermp1	T	A	19: 29,646,254	H112L	probably benign	Het
Exoc8	T	C	8: 124,896,581	D349G	probably damaging	Het
Fam151a	T	A	4: 106,735,510	M63K	probably benign	Het
Fmo9	C	A	1: 166,676,546	G149V	probably damaging	Het
Fndc8	A	G	11: 82,898,777	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,960,878	V365I	probably benign	Het
Frem2	C	T	3: 53,654,495	G864S	probably damaging	Het
Fstl5	T	A	3: 76,482,397		probably null	Het
Garnl3	T	A	2: 33,034,129	E247V	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gorasp1	T	A	9: 119,937,534		probably benign	Het
Hcar2	T	C	5: 123,864,478	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,299,569	M131I	probably damaging	Het
Kif13a	A	G	13: 46,826,745	V177A	probably damaging	Het
Limch1	C	T	5: 67,034,202	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,819	Y260C	possibly damaging	Het
Lmo7	A	G	14: 101,885,512	N379S	probably benign	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,714,511	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,607,267	Y303H	probably damaging	Het
Mecr	T	G	4: 131,843,675	V58G	probably null	Het
Med12l	T	A	3: 59,042,403	D193E	possibly damaging	Het
Moap1	T	C	12: 102,743,179	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,552,896	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Ndufs5	A	T	4: 123,715,951	C43*	probably null	Het
Oaz2	A	T	9: 65,688,901	D83V		Het
Olfr204	T	A	16: 59,315,149	N86I	possibly damaging	Het
Olfr329-ps	A	T	11: 58,542,707	Y269*	probably null	Het
Palm	A	G	10: 79,816,863	T191A	probably damaging	Het
Pclo	C	A	5: 14,675,836	D1569E	unknown	Het
Ppid	T	A	3: 79,600,297	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,750	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,485,797	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,176,072	T68A	probably benign	Het
Rbm15b	C	T	9: 106,885,047	G641R	probably benign	Het
Rgsl1	A	G	1: 153,793,845	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837	Y98*	probably null	Het
Sfxn3	T	G	19: 45,049,262	N52K	probably benign	Het
Slc17a3	G	T	13: 23,846,884	G182*	probably null	Het
Slc29a3	A	T	10: 60,750,658	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,862,934	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,595,437	I210F	possibly damaging	Het
Sp5	T	A	2: 70,476,697	L242*	probably null	Het
Spata25	C	G	2: 164,827,662	G143A	probably damaging	Het
Spata6	T	A	4: 111,768,738	Y101*	probably null	Het
Tdp2	T	G	13: 24,832,076	S89A	probably benign	Het
Tlr6	T	C	5: 64,953,629	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,795	I355V	probably benign	Het
Trappc8	A	T	18: 20,852,647	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,766,379	N399S	probably damaging	Het
Ube4b	A	G	4: 149,343,001	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp9y	A	T	Y: 1,315,759		probably null	Het
Vmn2r1	T	C	3: 64,105,456	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,086,247	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,091,945	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,924,244	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,891,460	M442K	possibly damaging	Het
Ydjc	T	C	16: 17,150,898	C234R	probably benign	Het
Zfp72	A	G	13: 74,372,348	Y204H	possibly damaging	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
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
R9152:Snapc4	UTSW	2	26369526	small deletion	probably benign
R9362:Snapc4	UTSW	2	26364853	missense	probably damaging	0.99
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'- GCTTTTGCCAGGTCAGAAAC -3'
(R):5'- CTCCTCAACAGTACAGAGTGC -3'

Sequencing Primer
(F):5'- CTGTCCAGAGTGACAGCTATAGTGAC -3'
(R):5'- AGTGCCAGACATTGACCTGTG -3'

Posted On

2019-09-13