Mutagenetix > Incidental Mutation

Incidental Mutation 'R8874:Sf3a2'

676479

Institutional Source

Beutler Lab

Gene Symbol

Sf3a2

Ensembl Gene

ENSMUSG00000020211

Gene Name

splicing factor 3a, subunit 2

Synonyms

PRP11, 66kDa, Sap62, SFA66

MMRRC Submission

068744-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8874 (G1)

Quality Score

139.458

Status

Not validated

Chromosome

Chromosomal Location

80634569-80640756 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT to ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT at 80640271 bp (GRCm39)

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

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

SMART Domains

Protein: ENSMUSP00000117160
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	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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,875,671 (GRCm39)	M615V	possibly damaging	Het
Bud31	T	C	5: 145,079,379 (GRCm39)		probably null	Het
Calhm4	A	G	10: 33,920,264 (GRCm39)	M1T	probably null	Het
Ccdc42	A	G	11: 68,485,396 (GRCm39)	K105E	probably damaging	Het
Cenpq	A	G	17: 41,242,551 (GRCm39)	S93P	probably damaging	Het
Cfh	A	G	1: 140,014,159 (GRCm39)	F1222L	probably damaging	Het
Cpxm2	A	T	7: 131,708,010 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,365,157 (GRCm39)	D1627G	possibly damaging	Het
Diras2	T	C	13: 52,661,737 (GRCm39)	E190G	possibly damaging	Het
Dpyd	G	C	3: 118,792,981 (GRCm39)	A563P	probably damaging	Het
Efcab8	T	A	2: 153,640,569 (GRCm39)	N343K		Het
Gbp2b	A	G	3: 142,314,040 (GRCm39)	E440G	probably benign	Het
Ghrhr	T	C	6: 55,355,891 (GRCm39)	F30L	probably benign	Het
Gm3404	T	A	5: 146,464,953 (GRCm39)	V231E	possibly damaging	Het
Gramd4	A	G	15: 85,985,093 (GRCm39)	H143R	probably damaging	Het
Greb1l	A	T	18: 10,544,896 (GRCm39)	E1408V	probably benign	Het
Hdgfl1	T	G	13: 26,954,007 (GRCm39)	Y22S	probably damaging	Het
Heatr1	T	A	13: 12,445,793 (GRCm39)	V1590D	probably damaging	Het
Hecw2	A	T	1: 53,943,608 (GRCm39)		probably benign	Het
Igkv8-30	C	A	6: 70,094,150 (GRCm39)	R87L	probably damaging	Het
Il18rap	T	A	1: 40,564,506 (GRCm39)	C179S	probably damaging	Het
Itprid2	A	G	2: 79,487,684 (GRCm39)	K589R	probably benign	Het
Jph4	T	C	14: 55,351,534 (GRCm39)	T161A	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,896 (GRCm39)	M17K	probably damaging	Het
Kpnb1	T	C	11: 97,056,209 (GRCm39)	N699S	probably benign	Het
Lama3	T	C	18: 12,582,643 (GRCm39)		probably null	Het
Lca5	A	G	9: 83,277,503 (GRCm39)	F614L	probably damaging	Het
Lyst	T	C	13: 13,812,147 (GRCm39)	V853A	probably benign	Het
Map2	A	T	1: 66,455,523 (GRCm39)	T1406S	probably damaging	Het
Med23	A	G	10: 24,771,617 (GRCm39)	I552V	possibly damaging	Het
Myo1h	A	T	5: 114,472,163 (GRCm39)	I414L		Het
Myom1	A	G	17: 71,413,199 (GRCm39)	K1271E	probably damaging	Het
Or14j5	A	T	17: 38,161,675 (GRCm39)	K64M	probably damaging	Het
Or2n1b	T	A	17: 38,459,623 (GRCm39)	V48E	possibly damaging	Het
Or7e177	T	C	9: 20,212,069 (GRCm39)	F192S	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,859,785 (GRCm39)	D1168E	possibly damaging	Het
Prr5	T	C	15: 84,583,916 (GRCm39)	M181T	probably damaging	Het
Ptpdc1	A	G	13: 48,744,168 (GRCm39)	I151T	probably damaging	Het
Ptpn7	T	C	1: 135,067,004 (GRCm39)	V287A	possibly damaging	Het
Ptprz1	T	C	6: 23,042,747 (GRCm39)	V2057A		Het
Rad17	G	T	13: 100,754,327 (GRCm39)	A631E	probably benign	Het
Slc22a2	A	T	17: 12,828,866 (GRCm39)	D324V	probably benign	Het
Strc	C	T	2: 121,205,353 (GRCm39)		probably null	Het
Taf4b	T	G	18: 14,963,127 (GRCm39)	D622E	probably benign	Het
Tgfbrap1	A	C	1: 43,114,973 (GRCm39)	N42K	probably benign	Het
Uvrag	A	G	7: 98,628,943 (GRCm39)	F375L	probably benign	Het
Vmn2r76	A	G	7: 85,877,999 (GRCm39)	I466T	probably damaging	Het
Vmn2r8	T	C	5: 108,956,617 (GRCm39)	K2E	probably damaging	Het
Vps13d	T	C	4: 144,881,772 (GRCm39)	T1274A		Het
Vwa3b	C	T	1: 37,074,839 (GRCm39)	A2V	possibly damaging	Het
Ylpm1	T	C	12: 85,116,394 (GRCm39)	V2092A	probably damaging	Het
Zfp638	T	C	6: 83,946,135 (GRCm39)	S1055P	probably damaging	Het
Zzef1	A	G	11: 72,754,815 (GRCm39)	T982A	probably benign	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
R2234: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
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'- CATGAATGGACTGCCTCCTC -3'
(R):5'- CAGGATTTGAGGGGTGAACC -3'

Sequencing Primer
(F):5'- TGGACCTCCCCAGATGC -3'
(R):5'- TGAACCCCTGGAGGCTGAG -3'

Posted On

2021-07-15