Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Snapc3'

57248

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

038832-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.973) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83417724-83467676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83450229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 321 (D321G)

Ref Sequence

ENSEMBL: ENSMUSP00000123793 (fasta)

Gene Model

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

AlphaFold

Q9D2C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030206
AA Change: D321G

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

SMART Domains

Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: D321G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123262
AA Change: D321G

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

SMART Domains

Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: D321G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124856
AA Change: D321G

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

SMART Domains

Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: D321G

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: D321G

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

SMART Domains

Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: D321G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160742

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	A	14: 8,536,655	D184V	possibly damaging	Het
Adamts2	C	A	11: 50,603,438	T113K	probably damaging	Het
Adgre1	T	A	17: 57,411,003	N338K	probably damaging	Het
Aggf1	A	T	13: 95,371,656		probably null	Het
Apc2	A	T	10: 80,304,928	I206F	probably damaging	Het
Carmil3	T	C	14: 55,502,435		probably null	Het
Ccdc110	A	C	8: 45,943,388	E772A	probably damaging	Het
Cdh23	A	G	10: 60,307,902	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,323,374	Y2207*	probably null	Het
Chd4	T	A	6: 125,109,123	N908K	probably damaging	Het
Chst9	A	G	18: 15,452,669	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,820,424	N261I	probably benign	Het
Dlgap2	A	T	8: 14,727,591	S279C	possibly damaging	Het
Dock4	G	A	12: 40,710,884	E524K	probably damaging	Het
Fabp12	T	A	3: 10,246,036	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,584,590	T100A	probably benign	Het
Fbxl5	T	C	5: 43,768,069	D176G	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477	N95S	possibly damaging	Het
Frem3	A	G	8: 80,615,185	E1369G	probably damaging	Het
Frmpd4	C	T	X: 167,489,010	E483K	probably damaging	Het
Gbp11	T	C	5: 105,330,964	K203E	possibly damaging	Het
Gm10334	A	T	6: 41,443,341	F150L	probably benign	Het
Hs3st6	C	T	17: 24,758,160	R205C	probably damaging	Het
Ifitm10	C	T	7: 142,356,035	S179N	probably damaging	Het
Irx2	A	C	13: 72,630,680	N121T	probably damaging	Het
Itih1	A	T	14: 30,935,863	V417E	probably damaging	Het
Itpr1	A	C	6: 108,383,698	E695A	probably damaging	Het
Kif1c	T	A	11: 70,726,141	I755K	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Lrp1	G	C	10: 127,571,477	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,480,607	I273K	possibly damaging	Het
Ly9	T	C	1: 171,599,808	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,674,405	V295A	probably benign	Het
Nlrp5	T	A	7: 23,417,707	D269E	probably damaging	Het
Olfr1294	A	G	2: 111,537,359	V310A	probably benign	Het
Olfr398	G	A	11: 73,983,771	A279V	probably damaging	Het
Olfr469	T	A	7: 107,823,011	I153F	probably benign	Het
Olfr654	T	G	7: 104,588,115	F104V	probably damaging	Het
Olfr720	T	G	14: 14,175,858	T75P	probably benign	Het
Otud3	A	G	4: 138,913,637	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,447,773	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,513,860	V14A	probably damaging	Het
Rbfox1	A	T	16: 7,224,384	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,156,928	D665G	probably benign	Het
Rc3h2	C	T	2: 37,409,530	V163M	probably damaging	Het
Sash1	T	A	10: 8,729,552	R1025W	probably damaging	Het
Sgpl1	A	G	10: 61,113,488	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,587,916	D615N	probably benign	Het
Smap1	A	G	1: 23,853,478	I135T	probably damaging	Het
St6galnac4	C	T	2: 32,589,448	R6C	probably damaging	Het
Syne2	C	T	12: 75,888,203	P153L	probably benign	Het
Tiprl	A	G	1: 165,222,523		probably null	Het
Tmem94	A	G	11: 115,796,795	N1160S	probably damaging	Het
Trim65	G	A	11: 116,128,210	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,169,275	I241N	probably damaging	Het
Txndc16	T	A	14: 45,165,361	R101*	probably null	Het
Ugt2b38	A	G	5: 87,423,469	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,549	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,926,184	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,275,625	I218F	probably damaging	Het
Wdfy4	A	G	14: 33,109,699	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,783,875	K31T	possibly 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
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
R6497:Snapc3	UTSW	4	83453126	nonsense	probably null
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'- CCAGATTGTATGTGACTGCACACAACC -3'
(R):5'- ACGCTGGTAAATTACACTTTTGCACTG -3'

Sequencing Primer
(F):5'- ATGTGACTGCACACAACCTTTTC -3'
(R):5'- CACTTTTGCACTGTTAGAGAGAC -3'

Posted On

2013-07-11