Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Sf3a2'

240194

Institutional Source

Beutler Lab

Gene Symbol

Sf3a2

Ensembl Gene

ENSMUSG00000020211

Gene Name

splicing factor 3a, subunit 2

Synonyms

SFA66, Sap62, PRP11, 66kDa

MMRRC Submission

040234-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80798198-80804924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80802829 bp (GRCm38)

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: ENSMUST00000218036

Predicted Effect

probably benign
Transcript: ENSMUST00000218209

Predicted Effect

probably benign
Transcript: ENSMUST00000219378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219767

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
Snap91	T	C	9: 86,798,571	T427A	probably benign	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tmem135	T	C	7: 89,154,074	N297S	probably damaging	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	probably damaging	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
R2234:Sf3a2	UTSW	10	80802829	missense	probably benign	0.05
R3871:Sf3a2	UTSW	10	80804693	unclassified	probably benign
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'- TCTCAGTACAGAGCAGATGGCC -3'
(R):5'- AAGTCGGCTGTGTGTCCTAG -3'

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

Posted On

2014-10-15