Mutagenetix > Incidental Mutations

Incidental Mutation 'R8311:Snapc4'

641361

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 #

R8311 (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 26378534 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 38 (F38L)

Ref Sequence

ENSEMBL: ENSMUSP00000109750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028293] [ENSMUST00000035427] [ENSMUST00000077983] [ENSMUST00000114100] [ENSMUST00000114102] [ENSMUST00000114115]

Predicted Effect

probably benign
Transcript: ENSMUST00000028293

SMART Domains

Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	209	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035427
AA Change: F30L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: F30L

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: ENSMUST00000077983

SMART Domains

Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	186	298	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114100

SMART Domains

Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	236	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114102

SMART Domains

Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	259	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114115
AA Change: F38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: F38L

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007B14Rik	T	A	8: 75,753,490		probably benign	Het
1700022I11Rik	T	C	4: 42,973,169	V834A	probably benign	Het
2700049A03Rik	A	G	12: 71,138,041		probably benign	Het
4930407I10Rik	T	C	15: 82,063,239	W446R	possibly damaging	Het
Aldh1l2	T	A	10: 83,490,615	E912D	probably damaging	Het
Apol9a	T	C	15: 77,405,020	D49G	possibly damaging	Het
Bnc2	A	T	4: 84,276,345	D847E	possibly damaging	Het
Ccdc91	A	G	6: 147,535,616	N100S	possibly damaging	Het
Copb2	G	T	9: 98,568,019	K10N	possibly damaging	Het
Cyp4a14	A	G	4: 115,491,078	S401P	probably damaging	Het
Cyp4f15	A	T	17: 32,697,940	Q277L	probably benign	Het
Dmxl2	A	T	9: 54,446,933	S410T	probably benign	Het
Dnah9	T	C	11: 65,989,818	N2651S	probably benign	Het
Efhb	A	G	17: 53,413,461		probably null	Het
Eif4ebp1	T	A	8: 27,275,096	F113L	probably damaging	Het
Emilin2	C	G	17: 71,255,146	D954H	probably damaging	Het
Eng	A	G	2: 32,678,993	T511A	probably benign	Het
Eps8l1	A	G	7: 4,471,818	D266G	probably damaging	Het
Fam120a	T	C	13: 48,933,957	H309R	possibly damaging	Het
Gga3	A	T	11: 115,587,008	S585T	probably benign	Het
Gm12117	T	C	11: 33,276,126	Q70R	probably damaging	Het
Gm15922	T	C	7: 3,736,483	D462G	probably benign	Het
Gpr158	A	G	2: 21,368,890	H212R	probably benign	Het
Hmgb1	A	G	5: 149,050,617	F41L	possibly damaging	Het
Itgav	T	A	2: 83,765,777	I214N	probably damaging	Het
Kcna1	T	A	6: 126,642,292	H355L	probably benign	Het
Lrrc37a	C	T	11: 103,503,421	V393I	probably benign	Het
Mak16	T	C	8: 31,168,669	D4G	probably damaging	Het
Metap2	C	T	10: 93,861,522	R432H	possibly damaging	Het
Nlrc4	G	A	17: 74,446,545	T281M	probably damaging	Het
Ntrk1	T	A	3: 87,781,563	Q561L	probably damaging	Het
Olfr1328	A	C	4: 118,934,150	S231A	probably damaging	Het
Olfr1493-ps1	A	G	19: 13,726,671	T137A	possibly damaging	Het
Polr2a	T	C	11: 69,737,456	I1304V	probably null	Het
Ppp4r2	T	C	6: 100,866,382	S354P	probably benign	Het
Ptchd3	A	G	11: 121,836,473	H391R	possibly damaging	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rmdn1	T	C	4: 19,575,329		probably null	Het
Rp1	T	A	1: 4,348,349	I847L	probably benign	Het
Rtn1	T	C	12: 72,304,064	E457G	probably damaging	Het
Serpind1	G	A	16: 17,342,866	S420N	possibly damaging	Het
Sirpa	T	C	2: 129,616,223	V253A	probably damaging	Het
Srcap	T	C	7: 127,557,797	F2321S	probably damaging	Het
Stat4	A	T	1: 52,102,916	I641F	probably damaging	Het
Tmem216	A	T	19: 10,551,827	F65Y	probably benign	Het
Tmem37	C	T	1: 120,068,252	V32M	possibly damaging	Het
Tmprss11c	T	G	5: 86,235,553	Q338P	probably damaging	Het
Tonsl	C	T	15: 76,633,263	S752N	probably benign	Het
Vmn1r26	T	C	6: 58,008,533	K224E	probably benign	Het
Vps13b	T	A	15: 35,886,954	V3229D	probably benign	Het
Vwa5b2	C	T	16: 20,591,222	R21W	probably damaging	Het
Wdr37	T	C	13: 8,853,573	R165G	unknown	Het
Yars2	T	C	16: 16,307,283	F388L	probably benign	Het
Ykt6	T	A	11: 5,962,366	D106E	probably benign	Het
Zc3h12a	A	C	4: 125,126,995	S18R	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
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
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'- GCCCTGACAGCTAAGACTAAG -3'
(R):5'- GTCTGCATTTGAACAGGCTC -3'

Sequencing Primer
(F):5'- CTGAAACAAACTTTCTTACTGAGGTG -3'
(R):5'- TTGCCACCTCCAGCAAGTG -3'

Posted On

2020-07-28