Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02475:Snapc3'

294906

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snapc3

Ensembl Gene

ENSMUSG00000028483

Gene Name

small nuclear RNA activating complex, polypeptide 3

Synonyms

4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

83335961-83385913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83368333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 277 (H277N)

Ref Sequence

ENSEMBL: ENSMUSP00000123793 (fasta)

Gene Model

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

AlphaFold

Q9D2C9

Predicted Effect

probably benign
Transcript: ENSMUST00000030206
AA Change: H277N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: H277N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123262
AA Change: H277N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: H277N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124856
AA Change: H277N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: H277N

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 benign
Transcript: ENSMUST00000143533
AA Change: H277N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: H277N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,343 (GRCm39)		probably benign	Het
5730409E04Rik	A	G	4: 126,505,742 (GRCm39)	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849 (GRCm38)	I27N	probably damaging	Het
Akap6	A	T	12: 53,186,277 (GRCm39)	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,646,317 (GRCm39)	V31A	possibly damaging	Het
Cep350	G	A	1: 155,738,341 (GRCm39)	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,297,072 (GRCm39)		probably null	Het
Crcp	T	C	5: 130,088,699 (GRCm39)		probably benign	Het
Creb5	G	A	6: 53,670,909 (GRCm39)	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,296 (GRCm39)	D38G	probably benign	Het
Fam171a1	A	G	2: 3,224,527 (GRCm39)	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,748,561 (GRCm39)	V396A	possibly damaging	Het
Gm10340	G	A	14: 14,832,274 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,544,310 (GRCm39)	T344A	probably benign	Het
Itga7	T	C	10: 128,769,958 (GRCm39)	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936 (GRCm39)		probably benign	Het
Neb	G	T	2: 52,182,831 (GRCm39)	N1038K	probably damaging	Het
Nf1	T	C	11: 79,426,493 (GRCm39)	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,406,872 (GRCm39)	T632K	possibly damaging	Het
Nme1nme2	A	G	11: 93,846,400 (GRCm39)	V16A	probably damaging	Het
Nts	A	G	10: 102,326,108 (GRCm39)		probably benign	Het
Olfml2b	A	G	1: 170,509,743 (GRCm39)	D697G	probably damaging	Het
Or5ac23	A	T	16: 59,149,088 (GRCm39)	H261Q	probably benign	Het
Or5m8	T	C	2: 85,822,376 (GRCm39)	F72L	probably benign	Het
Or9i1	T	A	19: 13,839,663 (GRCm39)	C169S	probably damaging	Het
Otof	T	C	5: 30,534,026 (GRCm39)	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Rnaseh2b	T	A	14: 62,584,064 (GRCm39)	F37I	probably damaging	Het
Rtn4	T	A	11: 29,683,801 (GRCm39)	I1031N	probably damaging	Het
Rxfp2	A	G	5: 149,987,151 (GRCm39)	E344G	probably benign	Het
Scel	A	G	14: 103,774,444 (GRCm39)	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,621,055 (GRCm39)	E39G	probably benign	Het
Slc6a12	T	A	6: 121,331,334 (GRCm39)		probably null	Het
Susd2	A	G	10: 75,473,333 (GRCm39)		probably null	Het
Tagap1	T	C	17: 7,223,826 (GRCm39)	Q290R	probably benign	Het
Tenm3	A	T	8: 48,732,233 (GRCm39)		probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 84,889,721 (GRCm39)	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,777,131 (GRCm39)	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,141,667 (GRCm39)	V17M	probably benign	Het
Trip11	T	A	12: 101,861,942 (GRCm39)	T208S	probably benign	Het
Ttc17	C	A	2: 94,194,721 (GRCm39)	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,471,302 (GRCm39)	W222R	probably damaging	Het
Xkr8	A	T	4: 132,455,512 (GRCm39)	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,926,066 (GRCm39)	G354C	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	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
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
R6762:Snapc3	UTSW	4	83,353,495 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16