Mutagenetix > Incidental Mutation

Incidental Mutation 'R6762:Snapc3'

531727

Institutional Source

Beutler Lab

Gene Symbol

Snapc3

Ensembl Gene

ENSMUSG00000028483

Gene Name

small nuclear RNA activating complex, polypeptide 3

Synonyms

4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik

MMRRC Submission

044878-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83335961-83385913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83353495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 178 (L178P)

Ref Sequence

ENSEMBL: ENSMUSP00000123793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000071544] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]

AlphaFold

Q9D2C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030206
AA Change: L178P

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

SMART Domains

Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: L178P

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	198	401	6.5e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071544
AA Change: L178P

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

SMART Domains

Protein: ENSMUSP00000102842
Gene: ENSMUSG00000028483
AA Change: L178P

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	269	3.2e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123262
AA Change: L178P

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

SMART Domains

Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: L178P

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	403	3.3e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124856
AA Change: L178P

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

SMART Domains

Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: L178P

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	403	3.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137512

Predicted Effect

probably damaging
Transcript: ENSMUST00000143533
AA Change: L178P

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

SMART Domains

Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: L178P

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	403	3.3e-76	PFAM

Meta Mutation Damage Score

0.8689

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,867 (GRCm39)	Y27H	probably benign	Het
Angptl3	T	A	4: 98,925,654 (GRCm39)	S327T	possibly damaging	Het
Arl6ip4	GGAAGAAGAAGAAGAAGAA	GGAAGAAGAAGAAGAAGAAGAA	5: 124,255,113 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,507,495 (GRCm39)	L318H	probably damaging	Het
Dnah14	T	C	1: 181,584,824 (GRCm39)	L3185P	probably damaging	Het
Dnah7b	T	C	1: 46,263,902 (GRCm39)	V2128A	probably benign	Het
Ehhadh	A	T	16: 21,581,209 (GRCm39)	F594L	probably benign	Het
En2	A	G	5: 28,375,351 (GRCm39)	N298S	possibly damaging	Het
Epha5	T	A	5: 84,479,585 (GRCm39)	N140Y	probably damaging	Het
Fam151b	C	T	13: 92,604,558 (GRCm39)	V144I	possibly damaging	Het
Fanca	C	A	8: 123,998,042 (GRCm39)	A1215S	probably benign	Het
Fancd2	T	A	6: 113,562,977 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,144,308 (GRCm39)		probably null	Het
Gm4513	T	C	7: 20,328,118 (GRCm39)	N31S	probably benign	Het
Hspg2	A	T	4: 137,279,114 (GRCm39)	I3066F	possibly damaging	Het
Krt10	T	C	11: 99,277,883 (GRCm39)	T355A	possibly damaging	Het
Lims1	C	A	10: 58,248,367 (GRCm39)	H275N	probably damaging	Het
Map3k19	C	T	1: 127,775,001 (GRCm39)	G112D	probably damaging	Het
Mdn1	T	A	4: 32,676,786 (GRCm39)	N619K	possibly damaging	Het
Mtor	A	G	4: 148,622,938 (GRCm39)	T1977A	possibly damaging	Het
Nos2	T	G	11: 78,850,574 (GRCm39)	L1144R	possibly damaging	Het
Or52ae7	G	C	7: 103,119,596 (GRCm39)	V117L	probably benign	Het
Or6c68	G	A	10: 129,158,125 (GRCm39)	C211Y	probably damaging	Het
Or8k38	A	T	2: 86,488,188 (GRCm39)	F205I	probably benign	Het
Pals2	T	A	6: 50,157,418 (GRCm39)		probably null	Het
Pcdhga9	C	A	18: 37,870,321 (GRCm39)	S50Y	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Prep	T	C	10: 45,024,219 (GRCm39)		probably null	Het
Qtrt1	T	A	9: 21,323,378 (GRCm39)	H76Q	probably damaging	Het
Rpa1	T	A	11: 75,231,171 (GRCm39)	S73C	possibly damaging	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Sptbn4	A	G	7: 27,093,633 (GRCm39)	F1340L	probably damaging	Het
Srd5a3	T	A	5: 76,301,398 (GRCm39)	I85K	probably benign	Het
Taar2	C	T	10: 23,817,300 (GRCm39)	T280M	probably damaging	Het
Tgfb3	T	C	12: 86,116,237 (GRCm39)	D177G	probably benign	Het
Tpt1	A	G	14: 76,083,821 (GRCm39)	D94G	probably benign	Het
Trpm4	A	G	7: 44,954,240 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,763,171 (GRCm39)	R746H	probably benign	Het
Txndc2	T	C	17: 65,945,967 (GRCm39)	D70G	probably damaging	Het
Ugcg	T	A	4: 59,219,530 (GRCm39)	I289N	possibly damaging	Het
Vmn2r2	C	G	3: 64,041,870 (GRCm39)	D282H	probably damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Wdpcp	C	T	11: 21,671,244 (GRCm39)	T495I	probably benign	Het
Zfp961	T	A	8: 72,719,958 (GRCm39)	C51S	possibly damaging	Het
Zxdc	C	T	6: 90,359,165 (GRCm39)	A599V	probably benign	Het

Other mutations in Snapc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Snapc3	APN	4	83,354,633 (GRCm39)	missense	probably damaging	0.97
IGL01400:Snapc3	APN	4	83,368,414 (GRCm39)	missense	probably damaging	1.00
IGL02031:Snapc3	APN	4	83,336,213 (GRCm39)	missense	probably benign	0.04
IGL02475:Snapc3	APN	4	83,368,333 (GRCm39)	missense	probably benign	0.04
IGL03141:Snapc3	APN	4	83,353,523 (GRCm39)	missense	probably damaging	1.00
R0417:Snapc3	UTSW	4	83,368,399 (GRCm39)	missense	probably benign	0.41
R0628:Snapc3	UTSW	4	83,368,397 (GRCm39)	missense	probably benign	0.01
R0631:Snapc3	UTSW	4	83,336,039 (GRCm39)	missense	probably damaging	0.99
R0647:Snapc3	UTSW	4	83,368,466 (GRCm39)	missense	probably damaging	1.00
R2328:Snapc3	UTSW	4	83,353,514 (GRCm39)	nonsense	probably null
R4454:Snapc3	UTSW	4	83,336,996 (GRCm39)	missense	probably damaging	1.00
R4860:Snapc3	UTSW	4	83,383,134 (GRCm39)	intron	probably benign
R6497:Snapc3	UTSW	4	83,371,363 (GRCm39)	nonsense	probably null
R7325:Snapc3	UTSW	4	83,353,507 (GRCm39)	missense	probably benign	0.04
R7599:Snapc3	UTSW	4	83,336,073 (GRCm39)	nonsense	probably null
R7880:Snapc3	UTSW	4	83,353,431 (GRCm39)	missense	probably damaging	1.00
R8489:Snapc3	UTSW	4	83,369,531 (GRCm39)	missense	probably damaging	1.00
R9412:Snapc3	UTSW	4	83,354,570 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCATTCCTCACTTTGAATTAGAC -3'
(R):5'- CTGCAAAGTCAGCTACAAGC -3'

Sequencing Primer
(F):5'- CATTAGACCCAAGGTTGACTGGAGTC -3'
(R):5'- CTTGTCTTAAAAGCTTTGCCAAAGG -3'

Posted On

2018-08-29