Mutagenetix > Incidental Mutation

Incidental Mutation 'R9493:Snapc2'

717059

Institutional Source

Beutler Lab

Gene Symbol

Snapc2

Ensembl Gene

ENSMUSG00000011837

Gene Name

small nuclear RNA activating complex, polypeptide 2

Synonyms

0610007H10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4303102-4306220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4304591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 115 (E115G)

Ref Sequence

ENSEMBL: ENSMUSP00000011981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011981] [ENSMUST00000053252] [ENSMUST00000110993] [ENSMUST00000145165] [ENSMUST00000208316] [ENSMUST00000208459]

AlphaFold

Q91XA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000011981
AA Change: E115G

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

SMART Domains

Protein: ENSMUSP00000011981
Gene: ENSMUSG00000011837
AA Change: E115G

Domain	Start	End	E-Value	Type
Pfam:SnAPC_2_like	1	356	5.9e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053252

SMART Domains

Protein: ENSMUSP00000057115
Gene: ENSMUSG00000048644

Domain	Start	End	E-Value	Type
Pfam:Cortexin	7	82	7.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110993

SMART Domains

Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
Pfam:Zona_pellucida	16	161	6.6e-15	PFAM
low complexity region	210	224	N/A	INTRINSIC
low complexity region	227	263	N/A	INTRINSIC
low complexity region	269	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145165

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208110

Predicted Effect

probably benign
Transcript: ENSMUST00000208316

Predicted Effect

probably damaging
Transcript: ENSMUST00000208459
AA Change: E35G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,191 (GRCm39)	Y799H	probably damaging	Het
Akap5	G	A	12: 76,375,041 (GRCm39)	A158T	probably damaging	Het
Aox4	A	G	1: 58,286,434 (GRCm39)	K689E	probably benign	Het
Arid1b	G	A	17: 5,046,423 (GRCm39)	A404T	unknown	Het
Bltp1	A	G	3: 37,065,885 (GRCm39)	N53S		Het
Camk2b	T	A	11: 5,929,711 (GRCm39)	D396V	probably damaging	Het
Cd53	T	A	3: 106,674,683 (GRCm39)	D128V	probably null	Het
Cdk15	G	T	1: 59,326,943 (GRCm39)	R208L	probably damaging	Het
Celsr1	T	G	15: 85,785,346 (GRCm39)	K2963Q	probably damaging	Het
Celsr2	A	G	3: 108,301,074 (GRCm39)	S2740P	probably damaging	Het
Clca4b	A	T	3: 144,632,964 (GRCm39)	L162H	probably damaging	Het
Cntn1	A	T	15: 92,189,644 (GRCm39)	T656S	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Dpy19l2	A	G	9: 24,530,459 (GRCm39)	Y507H	probably damaging	Het
Dsc3	A	T	18: 20,122,752 (GRCm39)	C57*	probably null	Het
Gramd1b	A	G	9: 40,217,689 (GRCm39)	Y621H	probably damaging	Het
Ifi207	A	T	1: 173,556,522 (GRCm39)	C739S	probably benign	Het
Il1rap	T	C	16: 26,541,702 (GRCm39)	S648P	probably benign	Het
Ints5	C	T	19: 8,872,686 (GRCm39)	T215I	probably damaging	Het
Itm2c	T	C	1: 85,834,255 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,137,907 (GRCm39)	S870T	probably benign	Het
Lrpprc	A	T	17: 85,015,548 (GRCm39)	F1288I	probably damaging	Het
Megf11	A	T	9: 64,547,376 (GRCm39)	H209L	probably damaging	Het
Mtss1	C	T	15: 58,926,869 (GRCm39)	R69H	probably damaging	Het
Nms	A	T	1: 38,980,982 (GRCm39)	H56L	probably benign	Het
Or4f54	G	A	2: 111,122,736 (GRCm39)	G41D	probably damaging	Het
Or4k36	C	T	2: 111,146,288 (GRCm39)	H155Y	probably damaging	Het
Or56a5	A	T	7: 104,793,497 (GRCm39)	M7K	possibly damaging	Het
Or5t17	T	C	2: 86,833,140 (GRCm39)	S276P	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pskh1	C	T	8: 106,639,598 (GRCm39)	R93*	probably null	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sec31b	C	A	19: 44,509,021 (GRCm39)	V653F	probably damaging	Het
Slc10a2	A	G	8: 5,139,047 (GRCm39)	V299A		Het
Slc6a15	A	G	10: 103,229,277 (GRCm39)	I105M	probably benign	Het
Smurf1	A	G	5: 144,833,395 (GRCm39)	V209A		Het
Sorcs2	T	C	5: 36,199,529 (GRCm39)	E592G	possibly damaging	Het
Spmip6	G	A	4: 41,508,614 (GRCm39)	P17L		Het
Styxl2	T	A	1: 165,926,410 (GRCm39)	K1067N	probably damaging	Het
Tcl1b1	A	T	12: 105,130,823 (GRCm39)	Q102L	probably damaging	Het
Tmc1	T	A	19: 20,801,644 (GRCm39)	N461Y	probably benign	Het
Trim59	C	A	3: 68,945,134 (GRCm39)	G69C	probably damaging	Het
Tubg1	A	G	11: 101,017,003 (GRCm39)	Y435C	probably damaging	Het
Ucp3	A	C	7: 100,131,911 (GRCm39)	H254P	probably benign	Het
Vav2	T	C	2: 27,157,276 (GRCm39)	D842G	probably damaging	Het
Vmn1r203	T	A	13: 22,708,423 (GRCm39)	L68H	probably damaging	Het
Wee2	A	G	6: 40,421,057 (GRCm39)	E49G	probably benign	Het
Zfr	A	G	15: 12,180,706 (GRCm39)		probably null	Het

Other mutations in Snapc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0279:Snapc2	UTSW	8	4,304,979 (GRCm39)	splice site	probably benign
R0611:Snapc2	UTSW	8	4,305,676 (GRCm39)	missense	probably benign	0.00
R4670:Snapc2	UTSW	8	4,304,998 (GRCm39)	missense	possibly damaging	0.93
R4745:Snapc2	UTSW	8	4,304,578 (GRCm39)	missense	probably damaging	1.00
R5225:Snapc2	UTSW	8	4,305,299 (GRCm39)	missense	probably damaging	1.00
R7567:Snapc2	UTSW	8	4,305,314 (GRCm39)	missense	probably damaging	1.00
R8055:Snapc2	UTSW	8	4,304,322 (GRCm39)	missense	probably damaging	1.00
R8803:Snapc2	UTSW	8	4,305,558 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGAAGATGCAGCCAGGTG -3'
(R):5'- GGCCTGGCAATTCTCTACTC -3'

Sequencing Primer
(F):5'- GGCATCAAGGAACACCGCTC -3'
(R):5'- GGCAATTCTCTACTCCTTCAAATTTG -3'

Posted On

2022-07-18