Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Snapc4'

595538

Institutional Source

Beutler Lab

Gene Symbol

Snapc4

Ensembl Gene

ENSMUSG00000036281

Gene Name

small nuclear RNA activating complex, polypeptide 4

Synonyms

5730436L13Rik

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26362765-26380653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26373434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 344 (K344N)

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: K336N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: K336N

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: K344N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: K344N

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

SMART Domains

Protein: ENSMUSP00000122456
Gene: ENSMUSG00000036281
AA Change: K37N

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: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193 (GRCm38)	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966 (GRCm38)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011 (GRCm38)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275 (GRCm38)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187 (GRCm38)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413 (GRCm38)		probably null	Het
Cc2d2b	T	A	19: 40,756,530 (GRCm38)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855 (GRCm38)	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625 (GRCm38)	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925 (GRCm38)	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755 (GRCm38)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793 (GRCm38)	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,451,244 (GRCm38)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645 (GRCm38)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273 (GRCm38)	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150 (GRCm38)	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591 (GRCm38)	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702 (GRCm38)	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542 (GRCm38)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339 (GRCm38)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666 (GRCm38)	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090 (GRCm38)	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045 (GRCm38)	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567 (GRCm38)	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668 (GRCm38)	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947 (GRCm38)	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306 (GRCm38)	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794 (GRCm38)	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242 (GRCm38)	H327L	unknown	Het
Myh1	A	G	11: 67,215,922 (GRCm38)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548 (GRCm38)		probably benign	Het
Naga	C	A	15: 82,330,147 (GRCm38)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401 (GRCm38)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593 (GRCm38)	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407 (GRCm38)	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496 (GRCm38)	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368 (GRCm38)	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045 (GRCm38)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882 (GRCm38)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057 (GRCm38)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109 (GRCm38)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378 (GRCm38)	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970 (GRCm38)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438 (GRCm38)	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984 (GRCm38)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218 (GRCm38)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327 (GRCm38)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580 (GRCm38)	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899 (GRCm38)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044 (GRCm38)	C1062R	probably damaging	Het
Sorl1	A	G	9: 41,984,526 (GRCm38)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675 (GRCm38)	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695 (GRCm38)	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178 (GRCm38)	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957 (GRCm38)	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789 (GRCm38)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249 (GRCm38)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274 (GRCm38)	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850 (GRCm38)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938 (GRCm38)	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805 (GRCm38)	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148 (GRCm38)	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134 (GRCm38)	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636 (GRCm38)	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682 (GRCm38)	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995 (GRCm38)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643 (GRCm38)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941 (GRCm38)	I235V	probably benign	Het

Other mutations in Snapc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Snapc4	APN	2	26,369,312 (GRCm38)	missense	probably benign
IGL01730:Snapc4	APN	2	26,363,724 (GRCm38)	splice site	probably null
IGL01958:Snapc4	APN	2	26,366,440 (GRCm38)	unclassified	probably benign
IGL02354:Snapc4	APN	2	26,367,307 (GRCm38)	unclassified	probably benign
IGL02425:Snapc4	APN	2	26,368,200 (GRCm38)	missense	probably damaging	1.00
IGL02812:Snapc4	APN	2	26,369,372 (GRCm38)	missense	probably benign	0.03
IGL02951:Snapc4	APN	2	26,370,835 (GRCm38)	missense	probably benign	0.33
R0011:Snapc4	UTSW	2	26,364,813 (GRCm38)	missense	probably benign	0.03
R0409:Snapc4	UTSW	2	26,367,216 (GRCm38)	missense	probably benign	0.37
R0932:Snapc4	UTSW	2	26,374,646 (GRCm38)	missense	probably damaging	1.00
R1674:Snapc4	UTSW	2	26,376,197 (GRCm38)	missense	probably benign
R1878:Snapc4	UTSW	2	26,376,153 (GRCm38)	critical splice donor site	probably null
R3722:Snapc4	UTSW	2	26,365,428 (GRCm38)	missense	probably benign
R3886:Snapc4	UTSW	2	26,365,498 (GRCm38)	nonsense	probably null
R3887:Snapc4	UTSW	2	26,365,498 (GRCm38)	nonsense	probably null
R3888:Snapc4	UTSW	2	26,365,498 (GRCm38)	nonsense	probably null
R3889:Snapc4	UTSW	2	26,365,498 (GRCm38)	nonsense	probably null
R4638:Snapc4	UTSW	2	26,365,302 (GRCm38)	missense	probably damaging	1.00
R4663:Snapc4	UTSW	2	26,374,181 (GRCm38)	missense	possibly damaging	0.77
R4879:Snapc4	UTSW	2	26,365,992 (GRCm38)	missense	possibly damaging	0.93
R4922:Snapc4	UTSW	2	26,369,233 (GRCm38)	missense	probably benign
R5385:Snapc4	UTSW	2	26,374,503 (GRCm38)	missense	probably benign	0.44
R5525:Snapc4	UTSW	2	26,369,526 (GRCm38)	small deletion	probably benign
R5762:Snapc4	UTSW	2	26,378,606 (GRCm38)	missense	probably damaging	1.00
R5839:Snapc4	UTSW	2	26,365,534 (GRCm38)	missense	probably benign	0.01
R6300:Snapc4	UTSW	2	26,378,551 (GRCm38)	missense	probably benign	0.14
R6422:Snapc4	UTSW	2	26,368,303 (GRCm38)	missense	probably benign	0.00
R6843:Snapc4	UTSW	2	26,373,599 (GRCm38)	missense	probably benign	0.03
R7044:Snapc4	UTSW	2	26,369,953 (GRCm38)	missense	probably damaging	1.00
R7341:Snapc4	UTSW	2	26,369,261 (GRCm38)	missense	probably benign	0.01
R7941:Snapc4	UTSW	2	26,376,718 (GRCm38)	missense	probably damaging	0.98
R8277:Snapc4	UTSW	2	26,365,710 (GRCm38)	missense	probably benign	0.05
R8311:Snapc4	UTSW	2	26,378,534 (GRCm38)	missense	probably benign
R8323:Snapc4	UTSW	2	26,364,699 (GRCm38)	missense	probably benign	0.15
R8777:Snapc4	UTSW	2	26,369,363 (GRCm38)	missense	probably benign	0.00
R8777-TAIL:Snapc4	UTSW	2	26,369,363 (GRCm38)	missense	probably benign	0.00
R8855:Snapc4	UTSW	2	26,374,533 (GRCm38)	missense	probably damaging	1.00
R9069:Snapc4	UTSW	2	26,370,793 (GRCm38)	nonsense	probably null
R9362:Snapc4	UTSW	2	26,364,853 (GRCm38)	missense	probably damaging	0.99
R9718:Snapc4	UTSW	2	26,378,521 (GRCm38)	missense	probably damaging	1.00
R9780:Snapc4	UTSW	2	26,377,007 (GRCm38)	missense	possibly damaging	0.94
X0010:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0011:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0014:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0017:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0021:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0023:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0028:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0033:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0064:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
X0067:Snapc4	UTSW	2	26,369,961 (GRCm38)	missense	probably damaging	1.00
Z1176:Snapc4	UTSW	2	26,368,222 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAGTCTCTGCTTCCAG -3'
(R):5'- ATCACCTGGTAAGAGCCTGGAG -3'

Sequencing Primer
(F):5'- TCTGCTTCCAGGCACCTAGG -3'
(R):5'- GAGGCAGGAGAGTTCTGC -3'

Posted On

2019-11-12