Mutagenetix > Incidental Mutation

Incidental Mutation 'R2234:Sf3a2'

239937

Institutional Source

Beutler Lab

Gene Symbol

Sf3a2

Ensembl Gene

ENSMUSG00000020211

Gene Name

splicing factor 3a, subunit 2

Synonyms

PRP11, 66kDa, Sap62, SFA66

MMRRC Submission

040235-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R2234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80634569-80640756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80638663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 95 (A95S)

Ref Sequence

ENSEMBL: ENSMUSP00000117160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036016] [ENSMUST00000036805] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000151928] [ENSMUST00000218209] [ENSMUST00000219378]

AlphaFold

no structure available at present

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

probably benign
Transcript: ENSMUST00000036805

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278

Domain	Start	End	E-Value	Type
PH	16	110	1.48e-7	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

probably benign
Transcript: ENSMUST00000148665
AA Change: A95S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
AA Change: A95S

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
AA Change: A95S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211
AA Change: A95S

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

noncoding transcript
Transcript: ENSMUST00000217735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219767

Predicted Effect

probably benign
Transcript: ENSMUST00000218209

Predicted Effect

probably benign
Transcript: ENSMUST00000219378

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Akap8l	C	T	17: 32,557,777 (GRCm39)	G37R	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cd81	T	A	7: 142,620,056 (GRCm39)	N71K	probably benign	Het
Cemip	G	T	7: 83,647,770 (GRCm39)	D103E	probably benign	Het
Chfr	A	G	5: 110,318,729 (GRCm39)	K580E	probably damaging	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cpb1	A	T	3: 20,329,629 (GRCm39)	D32E	probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
Eml5	A	C	12: 98,807,840 (GRCm39)	D984E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hspa2	A	G	12: 76,451,419 (GRCm39)	T38A	possibly damaging	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kalrn	C	A	16: 33,996,632 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,763,129 (GRCm39)	D240G	probably damaging	Het
Lrrc56	T	A	7: 140,778,207 (GRCm39)	D66E	probably damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2d4	C	A	7: 106,543,827 (GRCm39)	C127F	probably damaging	Het
Or4c114	A	G	2: 88,904,592 (GRCm39)	L281P	probably damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or7g19	A	T	9: 18,856,112 (GRCm39)	H56L	probably damaging	Het
Or8k39	A	G	2: 86,563,921 (GRCm39)	F12L	possibly damaging	Het
Pax8	A	G	2: 24,333,114 (GRCm39)	I77T	probably damaging	Het
Paxbp1	T	C	16: 90,831,822 (GRCm39)	I355M	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Plec	A	T	15: 76,061,147 (GRCm39)	I2952N	probably damaging	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Ssc5d	A	G	7: 4,946,849 (GRCm39)	T1068A	probably benign	Het
Stambp	A	G	6: 83,528,960 (GRCm39)	S362P	probably damaging	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xpnpep1	T	G	19: 53,001,892 (GRCm39)	D118A	probably damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het

Other mutations in Sf3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Sf3a2	APN	10	80,640,526 (GRCm39)	nonsense	probably null
IGL02997:Sf3a2	APN	10	80,639,454 (GRCm39)	missense	probably damaging	1.00
R0470:Sf3a2	UTSW	10	80,640,388 (GRCm39)	unclassified	probably benign
R1436:Sf3a2	UTSW	10	80,640,040 (GRCm39)	unclassified	probably benign
R1437:Sf3a2	UTSW	10	80,640,040 (GRCm39)	unclassified	probably benign
R2233:Sf3a2	UTSW	10	80,638,663 (GRCm39)	missense	probably benign	0.05
R3871:Sf3a2	UTSW	10	80,640,527 (GRCm39)	unclassified	probably benign
R4116:Sf3a2	UTSW	10	80,637,175 (GRCm39)	missense	probably damaging	0.98
R4659:Sf3a2	UTSW	10	80,639,418 (GRCm39)	missense	probably damaging	1.00
R4946:Sf3a2	UTSW	10	80,639,947 (GRCm39)	unclassified	probably benign
R5081:Sf3a2	UTSW	10	80,640,275 (GRCm39)	unclassified	probably benign
R5618:Sf3a2	UTSW	10	80,640,410 (GRCm39)	unclassified	probably benign
R6039:Sf3a2	UTSW	10	80,637,297 (GRCm39)	missense	probably damaging	1.00
R6039:Sf3a2	UTSW	10	80,637,297 (GRCm39)	missense	probably damaging	1.00
R7925:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R7930:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R8118:Sf3a2	UTSW	10	80,639,474 (GRCm39)	missense	probably damaging	1.00
R8170:Sf3a2	UTSW	10	80,639,131 (GRCm39)	splice site	probably null
R8757:Sf3a2	UTSW	10	80,640,138 (GRCm39)	missense	unknown
R8785:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R8874:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R9111:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R9292:Sf3a2	UTSW	10	80,640,560 (GRCm39)	missense	unknown
R9575:Sf3a2	UTSW	10	80,640,271 (GRCm39)	unclassified	probably benign
R9663:Sf3a2	UTSW	10	80,637,309 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAGTACAGAGCAGATGGCC -3'
(R):5'- AGAAGTCGGCTGTGTGTCCTAG -3'

Sequencing Primer
(F):5'- TGGTGCCAGGATTCTCACC -3'
(R):5'- CCTAGGGACAAGGGTATGT -3'

Posted On

2014-10-15