Mutagenetix > Incidental Mutation

Incidental Mutation 'R6497:Snapc3'

523054

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83417724-83467676 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83453126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 388 (E388*)

Ref Sequence

ENSEMBL: ENSMUSP00000123793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000030207] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]

AlphaFold

Q9D2C9

Predicted Effect

probably null
Transcript: ENSMUST00000030206
AA Change: E388*

SMART Domains

Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: E388*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030207

SMART Domains

Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484

Domain	Start	End	E-Value	Type
PWWP	5	62	1.98e-17	SMART
low complexity region	143	155	N/A	INTRINSIC
low complexity region	212	255	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
Pfam:LEDGF	347	448	4.4e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123262
AA Change: E388*

SMART Domains

Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: E388*

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

Predicted Effect

probably null
Transcript: ENSMUST00000124856
AA Change: E388*

SMART Domains

Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: E388*

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 null
Transcript: ENSMUST00000143533
AA Change: E388*

SMART Domains

Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: E388*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160742

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,805,105	Y399N	probably damaging	Het
Acsm3	G	A	7: 119,780,749		probably null	Het
Aldh16a1	T	A	7: 45,144,937	S556C	possibly damaging	Het
Armc7	T	C	11: 115,476,251	I74T	probably benign	Het
Atp13a4	T	C	16: 29,479,901	D80G	probably damaging	Het
Bicral	A	T	17: 46,825,573	I237K	probably damaging	Het
Caskin1	T	C	17: 24,504,548	V770A	probably benign	Het
Cd209c	T	C	8: 3,944,122	K113E	possibly damaging	Het
Cdh7	G	A	1: 110,065,798		probably null	Het
Clca3a1	A	T	3: 144,759,259	V71D	possibly damaging	Het
Cntnap5a	T	C	1: 116,577,897	L1228P	probably damaging	Het
Cntrl	A	G	2: 35,135,572	N85D	possibly damaging	Het
Coch	G	A	12: 51,602,721	V272M	probably benign	Het
Col22a1	T	C	15: 71,890,576	E78G	possibly damaging	Het
Cyp2c66	T	A	19: 39,163,377	C179S	probably damaging	Het
Dsg3	A	G	18: 20,537,248	I681V	probably benign	Het
Egflam	A	T	15: 7,251,303		probably null	Het
Fut10	T	A	8: 31,236,250	D344E	probably damaging	Het
Gad2	C	T	2: 22,668,257	P329L	probably damaging	Het
Gm14393	T	C	2: 175,061,634	E160G	possibly damaging	Het
Gprc6a	T	C	10: 51,615,701	I476V	probably benign	Het
Limk2	A	G	11: 3,360,492	F71L	probably benign	Het
Neb	A	T	2: 52,258,289	N2648K	possibly damaging	Het
Olfr561	T	A	7: 102,775,450	F309I	probably benign	Het
Olfr646	T	C	7: 104,107,215		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Pcdhgb7	T	A	18: 37,753,853	V692E	probably damaging	Het
Pclo	A	C	5: 14,793,855	K4802Q	unknown	Het
Primpol	A	T	8: 46,586,341		probably null	Het
Prr14	C	T	7: 127,474,578	R205C	probably benign	Het
Rbm12b1	T	C	4: 12,146,431	I801T	probably benign	Het
Ror2	A	T	13: 53,131,919	N86K	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Sh2d4b	A	G	14: 40,874,182	V81A	probably benign	Het
Skint6	A	G	4: 113,236,398	Y183H	probably damaging	Het
Srrm4	A	T	5: 116,467,491	S236T	unknown	Het
Srrt	G	T	5: 137,297,506	P193H	probably damaging	Het
Sspo	A	T	6: 48,495,208	T810S	possibly damaging	Het
Stk36	A	G	1: 74,603,232	H6R	probably damaging	Het
Tiam2	A	G	17: 3,506,827	T1181A	probably damaging	Het
Tmem184a	A	G	5: 139,813,000	F65L	probably damaging	Het
Vwa8	A	G	14: 79,096,401	I1330M	probably benign	Het
Zfp827	T	A	8: 79,180,128	M923K	probably damaging	Het

Other mutations in Snapc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Snapc3	APN	4	83436396	missense	probably damaging	0.97
IGL01400:Snapc3	APN	4	83450177	missense	probably damaging	1.00
IGL02031:Snapc3	APN	4	83417976	missense	probably benign	0.04
IGL02475:Snapc3	APN	4	83450096	missense	probably benign	0.04
IGL03141:Snapc3	APN	4	83435286	missense	probably damaging	1.00
R0417:Snapc3	UTSW	4	83450162	missense	probably benign	0.41
R0628:Snapc3	UTSW	4	83450160	missense	probably benign	0.01
R0631:Snapc3	UTSW	4	83417802	missense	probably damaging	0.99
R0647:Snapc3	UTSW	4	83450229	missense	probably damaging	1.00
R2328:Snapc3	UTSW	4	83435277	nonsense	probably null
R4454:Snapc3	UTSW	4	83418759	missense	probably damaging	1.00
R4860:Snapc3	UTSW	4	83464897	intron	probably benign
R6762:Snapc3	UTSW	4	83435258	missense	probably damaging	1.00
R7325:Snapc3	UTSW	4	83435270	missense	probably benign	0.04
R7599:Snapc3	UTSW	4	83417836	nonsense	probably null
R7880:Snapc3	UTSW	4	83435194	missense	probably damaging	1.00
R8489:Snapc3	UTSW	4	83451294	missense	probably damaging	1.00
R9412:Snapc3	UTSW	4	83436333	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCCTACTGTGTCTGCTGAG -3'
(R):5'- AGAAGTTGTGTTTCCGACAAGG -3'

Sequencing Primer
(F):5'- CTGCTATGTGACCCCTATGAAAG -3'
(R):5'- CCATTAACAACCCCTTGTAA -3'

Posted On

2018-06-06