Mutagenetix > Incidental Mutation

Incidental Mutation 'R3871:Sf3a2'

276567

Institutional Source

Beutler Lab

Gene Symbol

Sf3a2

Ensembl Gene

ENSMUSG00000020211

Gene Name

splicing factor 3a, subunit 2

Synonyms

SFA66, Sap62, PRP11, 66kDa

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R3871 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

80798198-80804924 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 80804693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020435] [ENSMUST00000036016] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000151928] [ENSMUST00000181039] [ENSMUST00000181945]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020435

SMART Domains

Protein: ENSMUSP00000020435
Gene: ENSMUSG00000020216

Domain	Start	End	E-Value	Type
low complexity region	52	77	N/A	INTRINSIC
Pfam:JSRP	79	138	1e-29	PFAM
low complexity region	145	158	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036016

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	38	52	N/A	INTRINSIC
Pfam:AMH_N	75	439	3e-133	PFAM
TGFB	456	554	8.57e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139461

Predicted Effect

probably benign
Transcript: ENSMUST00000147440

SMART Domains

Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
Blast:CactinC_cactus	41	67	1e-9	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000148665
AA Change: Q446P

SMART Domains

Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
AA Change: Q446P

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	219	8.29e-35	SMART
low complexity region	300	318	N/A	INTRINSIC
low complexity region	320	420	N/A	INTRINSIC
low complexity region	423	452	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151928

SMART Domains

Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	194	1.26e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181039

SMART Domains

Protein: ENSMUSP00000137666
Gene: ENSMUSG00000020216

Domain	Start	End	E-Value	Type
low complexity region	92	117	N/A	INTRINSIC
Pfam:JSRP	118	179	1e-31	PFAM
low complexity region	185	198	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	245	270	N/A	INTRINSIC
low complexity region	313	324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181945

SMART Domains

Protein: ENSMUSP00000137960
Gene: ENSMUSG00000020216

Domain	Start	End	E-Value	Type
transmembrane domain	53	75	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,624,753	Y225*	probably null	Het
Bard1	T	C	1: 71,074,940	K294R	probably benign	Het
Bcap29	A	T	12: 31,617,081	S194T	probably benign	Het
Ccdc40	G	A	11: 119,264,281	V1116M	probably damaging	Het
Cntnap5a	A	G	1: 116,060,249	E170G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cyp2c54	T	C	19: 40,072,423	D92G	probably benign	Het
Dpp6	T	C	5: 27,469,465	F197L	probably benign	Het
Filip1l	G	T	16: 57,513,286	K147N	probably damaging	Het
Hrnr	T	A	3: 93,331,874	S3140T	unknown	Het
Igfn1	G	T	1: 135,968,836	H1331N	probably benign	Het
Kalrn	C	T	16: 34,203,856		probably null	Het
Kmt2d	TTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGC	15: 98,851,021		probably benign	Het
Mfng	A	G	15: 78,756,621	L308P	probably damaging	Het
Nt5e	C	A	9: 88,364,693	N327K	probably benign	Het
Olfr1025-ps1	T	G	2: 85,918,582		probably null	Het
Pgbd1	C	T	13: 21,434,370	R39H	possibly damaging	Het
Phactr4	T	C	4: 132,377,249	T256A	probably benign	Het
Rab24	T	C	13: 55,321,179	D63G	probably damaging	Het
Rubcnl	C	T	14: 75,040,916	P380L	probably benign	Het
Satb2	A	G	1: 56,891,220	S215P	probably damaging	Het
Serpina3b	A	T	12: 104,138,788	I408F	probably damaging	Het
Setx	A	G	2: 29,145,741	D746G	probably damaging	Het
Snx33	T	C	9: 56,926,740	N15S	probably benign	Het
Snx9	C	T	17: 5,891,781	P61L	probably benign	Het
Sult2a6	T	C	7: 14,254,776	K20E	probably benign	Het
Tas2r122	A	G	6: 132,711,580	S117P	probably benign	Het
Tmem26	G	A	10: 68,778,732	E326K	probably benign	Het
Tnpo2	T	A	8: 85,054,751	C789S	probably null	Het
Togaram1	A	C	12: 65,002,645	E1285D	probably benign	Het
Ubxn7	T	A	16: 32,381,430	S335T	possibly damaging	Het
Unc119b	G	A	5: 115,130,508	T106M	probably damaging	Het
Usp14	A	G	18: 10,002,370	S314P	possibly damaging	Het
Usp32	T	C	11: 85,081,156	D129G	probably null	Het

Other mutations in Sf3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Sf3a2	APN	10	80804692	nonsense	probably null
IGL02997:Sf3a2	APN	10	80803620	missense	probably damaging	1.00
R0470:Sf3a2	UTSW	10	80804554	unclassified	probably benign
R1436:Sf3a2	UTSW	10	80804206	unclassified	probably benign
R1437:Sf3a2	UTSW	10	80804206	unclassified	probably benign
R2233:Sf3a2	UTSW	10	80802829	missense	probably benign	0.05
R2234:Sf3a2	UTSW	10	80802829	missense	probably benign	0.05
R4116:Sf3a2	UTSW	10	80801341	missense	probably damaging	0.98
R4659:Sf3a2	UTSW	10	80803584	missense	probably damaging	1.00
R4946:Sf3a2	UTSW	10	80804113	unclassified	probably benign
R5081:Sf3a2	UTSW	10	80804441	unclassified	probably benign
R5618:Sf3a2	UTSW	10	80804576	unclassified	probably benign
R6039:Sf3a2	UTSW	10	80801463	missense	probably damaging	1.00
R6039:Sf3a2	UTSW	10	80801463	missense	probably damaging	1.00
R7925:Sf3a2	UTSW	10	80804437	unclassified	probably benign
R7930:Sf3a2	UTSW	10	80804437	unclassified	probably benign
R8118:Sf3a2	UTSW	10	80803640	missense	probably damaging	1.00
R8170:Sf3a2	UTSW	10	80803297	splice site	probably null
R8757:Sf3a2	UTSW	10	80804304	missense	unknown
R8785:Sf3a2	UTSW	10	80804437	unclassified	probably benign
R8874:Sf3a2	UTSW	10	80804437	unclassified	probably benign
R9111:Sf3a2	UTSW	10	80804437	unclassified	probably benign
R9292:Sf3a2	UTSW	10	80804726	missense	unknown
R9575:Sf3a2	UTSW	10	80804437	unclassified	probably benign
R9663:Sf3a2	UTSW	10	80801475	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTCCATCCACCAACATCTG -3'
(R):5'- TTAATAGGCTCAAGGCAGGAC -3'

Sequencing Primer
(F):5'- CAACATCTGGGGTCCATCC -3'
(R):5'- CTTCCAAGGACTGGCAATGG -3'

Posted On

2015-04-06