Mutagenetix > Incidental Mutation

Incidental Mutation 'R2697:U2af2'

251190

Institutional Source

Beutler Lab

Gene Symbol

U2af2

Ensembl Gene

ENSMUSG00000030435

Gene Name

U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2

Synonyms

MMRRC Submission

040435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2697 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

5065142-5082937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5070545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 78 (R78H)

Ref Sequence

ENSEMBL: ENSMUSP00000005041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000165399] [ENSMUST00000207097] [ENSMUST00000209099]

AlphaFold

P26369

PDB Structure

NMR Structure of the third RNA Recognition Motif (RRM) of U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2 [SOLUTION NMR]
Crystal structure of a RNA binding domain of a U2 small nuclear ribonucleoprotein auxiliary factor 2 (U2AF) from Mus musculus at 1.80 A resolution [X-RAY DIFFRACTION]
Crystal structure of a RNA-binding protein 39 (RBM39) in complex with fragment of splicing factor (U2AF) from Mus musculus at 2.20 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000005041
AA Change: R78H

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

SMART Domains

Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435
AA Change: R78H

Domain	Start	End	E-Value	Type
low complexity region	23	62	N/A	INTRINSIC
PDB:1JMT\|B	85	112	9e-13	PDB
RRM	150	227	1.26e-11	SMART
low complexity region	242	257	N/A	INTRINSIC
RRM	260	333	8.64e-19	SMART
RRM	377	462	3.04e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165399

SMART Domains

Protein: ENSMUSP00000131458
Gene: ENSMUSG00000030435

Domain	Start	End	E-Value	Type
RRM	8	63	3.31e0	SMART
low complexity region	78	93	N/A	INTRINSIC
RRM	96	169	8.64e-19	SMART
RRM	209	294	3.04e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207097

Predicted Effect

unknown
Transcript: ENSMUST00000207498
AA Change: R10H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207960

Predicted Effect

probably benign
Transcript: ENSMUST00000209099
AA Change: R78H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208419

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,619 (GRCm39)	S46G	unknown	Het
Acaca	T	A	11: 84,255,239 (GRCm39)	D1932E	probably damaging	Het
Adam7	A	T	14: 68,752,232 (GRCm39)	C417*	probably null	Het
Adgrl4	A	C	3: 151,216,260 (GRCm39)	Q481P	probably damaging	Het
Adra2c	C	A	5: 35,438,042 (GRCm39)	N271K	probably benign	Het
Ahctf1	T	C	1: 179,580,097 (GRCm39)	K2035R	probably damaging	Het
Ano3	T	C	2: 110,625,305 (GRCm39)	T182A	possibly damaging	Het
Armc3	T	C	2: 19,308,746 (GRCm39)	Y805H	probably damaging	Het
BC024139	TCCACCACCACCACCACCAC	TCCACCACCACCACCAC	15: 76,004,393 (GRCm39)		probably benign	Het
Cabp7	C	T	11: 4,688,837 (GRCm39)	R211H	probably damaging	Het
Ccdc117	T	C	11: 5,484,888 (GRCm39)	N112S	possibly damaging	Het
Cep120	C	T	18: 53,873,197 (GRCm39)	D45N	probably benign	Het
Cpsf1	T	C	15: 76,483,529 (GRCm39)	Y872C	probably damaging	Het
Cradd	A	G	10: 95,011,807 (GRCm39)	L111P	probably damaging	Het
Crhr2	A	G	6: 55,079,815 (GRCm39)	L155P	probably damaging	Het
Fgd2	A	T	17: 29,595,895 (GRCm39)	T518S	probably damaging	Het
Gpam	C	T	19: 55,071,641 (GRCm39)	E367K	probably damaging	Het
Gtf3c1	T	A	7: 125,243,126 (GRCm39)	N1826I	probably damaging	Het
Kcnq5	T	C	1: 21,549,656 (GRCm39)	E357G	probably damaging	Het
Krt1	T	A	15: 101,755,364 (GRCm39)	D465V	probably damaging	Het
Lcor	T	A	19: 41,572,466 (GRCm39)	V407E	probably benign	Het
Macrod1	T	C	19: 7,174,157 (GRCm39)	V221A	probably damaging	Het
Mbd1	T	C	18: 74,406,688 (GRCm39)	S144P	possibly damaging	Het
Mtfmt	T	C	9: 65,359,303 (GRCm39)	V326A	probably benign	Het
Myo1b	T	C	1: 51,902,517 (GRCm39)	D71G	probably benign	Het
Myo1h	A	G	5: 114,493,274 (GRCm39)	Y705C	probably damaging	Het
Nudt9	T	C	5: 104,212,859 (GRCm39)	W311R	probably damaging	Het
Or11g27	C	T	14: 50,771,238 (GRCm39)	A123V	probably damaging	Het
Or2a57	A	T	6: 43,213,060 (GRCm39)	I173F	probably damaging	Het
Or2h15	A	G	17: 38,441,900 (GRCm39)	F61S	probably damaging	Het
Or6c65	G	A	10: 129,603,793 (GRCm39)	V143I	probably benign	Het
Osbp2	A	T	11: 3,813,407 (GRCm39)	L154Q	probably benign	Het
P3h1	A	G	4: 119,104,377 (GRCm39)	T633A	probably damaging	Het
Polq	T	G	16: 36,862,515 (GRCm39)	L616R	probably damaging	Het
Pon3	A	G	6: 5,232,429 (GRCm39)	L197S	possibly damaging	Het
Rap1gds1	C	T	3: 138,689,482 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rfng	C	A	11: 120,674,865 (GRCm39)		probably benign	Het
Rps6ka2	T	G	17: 7,567,721 (GRCm39)	L728R	probably benign	Het
Slc41a3	C	A	6: 90,619,302 (GRCm39)	N360K	possibly damaging	Het
Sult1e1	T	C	5: 87,726,397 (GRCm39)	N239S	probably damaging	Het
Tacr1	T	A	6: 82,469,578 (GRCm39)	I154N	probably damaging	Het
Tacstd2	T	A	6: 67,512,203 (GRCm39)	H163L	probably benign	Het
Tent5a	T	C	9: 85,206,793 (GRCm39)	D335G	possibly damaging	Het
Tiam1	T	C	16: 89,590,052 (GRCm39)	S1382G	probably benign	Het
Tmem43	A	G	6: 91,456,911 (GRCm39)	E164G	possibly damaging	Het
Yipf7	T	A	5: 69,698,483 (GRCm39)	D8V	possibly damaging	Het
Zfp58	G	A	13: 67,639,124 (GRCm39)	H456Y	probably damaging	Het
Zfp799	G	A	17: 33,039,214 (GRCm39)	R351*	probably null	Het
Zfyve9	T	C	4: 108,553,016 (GRCm39)	D715G	probably damaging	Het

Other mutations in U2af2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03368:U2af2	APN	7	5,070,263 (GRCm39)	splice site	probably benign
IGL02980:U2af2	UTSW	7	5,071,042 (GRCm39)	missense	probably benign	0.37
R0919:U2af2	UTSW	7	5,072,433 (GRCm39)	splice site	probably benign
R1768:U2af2	UTSW	7	5,070,544 (GRCm39)	missense	probably benign	0.00
R2228:U2af2	UTSW	7	5,078,672 (GRCm39)	missense	probably damaging	1.00
R3974:U2af2	UTSW	7	5,072,438 (GRCm39)	splice site	probably null
R5777:U2af2	UTSW	7	5,069,450 (GRCm39)	missense	probably benign	0.37
R5916:U2af2	UTSW	7	5,082,179 (GRCm39)	critical splice acceptor site	probably null
R6290:U2af2	UTSW	7	5,078,683 (GRCm39)	missense	probably benign
R6860:U2af2	UTSW	7	5,082,273 (GRCm39)	missense	possibly damaging	0.77
R7827:U2af2	UTSW	7	5,077,661 (GRCm39)	critical splice donor site	probably null
R8300:U2af2	UTSW	7	5,070,414 (GRCm39)	intron	probably benign
R8477:U2af2	UTSW	7	5,078,693 (GRCm39)	missense	probably benign	0.00
R8727:U2af2	UTSW	7	5,070,432 (GRCm39)	intron	probably benign
R8857:U2af2	UTSW	7	5,065,290 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCAATTTGCCTGCCTTG -3'
(R):5'- AAGACATTCCCTCCTGCAGC -3'

Sequencing Primer
(F):5'- CACTGGGGAAGAGGCTCATCTG -3'
(R):5'- CCAGAAGCCTTTGAGTATGATCC -3'

Posted On

2014-12-04