Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:U2af2'

461325

Institutional Source

Beutler Lab

Gene Symbol

U2af2

Ensembl Gene

ENSMUSG00000030435

Gene Name

U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2

Synonyms

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5916 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

5065142-5082937 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 5082179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000005041] [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000146317] [ENSMUST00000153169] [ENSMUST00000165399] [ENSMUST00000165399] [ENSMUST00000209099] [ENSMUST00000209099] [ENSMUST00000208634]

AlphaFold

P26369

Predicted Effect

probably null
Transcript: ENSMUST00000005041

SMART Domains

Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435

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 null
Transcript: ENSMUST00000005041

SMART Domains

Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435

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: ENSMUST00000045277

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
ENTH	18	144	5.84e-65	SMART
low complexity region	157	174	N/A	INTRINSIC
UIM	183	202	2.94e-1	SMART
UIM	208	227	4.15e-1	SMART
UIM	233	252	5.48e-1	SMART
low complexity region	279	293	N/A	INTRINSIC
low complexity region	294	316	N/A	INTRINSIC
low complexity region	332	350	N/A	INTRINSIC
low complexity region	363	379	N/A	INTRINSIC
low complexity region	454	466	N/A	INTRINSIC
low complexity region	536	545	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098845

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
ENTH	18	144	5.84e-65	SMART
low complexity region	157	174	N/A	INTRINSIC
UIM	183	202	2.94e-1	SMART
UIM	208	227	4.15e-1	SMART
UIM	233	252	5.48e-1	SMART
low complexity region	279	293	N/A	INTRINSIC
low complexity region	294	316	N/A	INTRINSIC
low complexity region	332	350	N/A	INTRINSIC
low complexity region	363	379	N/A	INTRINSIC
low complexity region	454	466	N/A	INTRINSIC
low complexity region	536	545	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146317

SMART Domains

Protein: ENSMUSP00000116571
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
Pfam:ENTH	17	90	7.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152083

Predicted Effect

probably benign
Transcript: ENSMUST00000153169

SMART Domains

Protein: ENSMUSP00000122594
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
Pfam:ENTH	17	54	3.8e-14	PFAM

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000209099

Predicted Effect

probably null
Transcript: ENSMUST00000209099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207926

Predicted Effect

probably benign
Transcript: ENSMUST00000207498

Predicted Effect

probably benign
Transcript: ENSMUST00000208634

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,349,550 (GRCm39)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,283,006 (GRCm39)	V1161F	possibly damaging	Het
Adam3	A	T	8: 25,174,555 (GRCm39)		probably null	Het
Agt	A	T	8: 125,290,597 (GRCm39)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,512,181 (GRCm39)	F674L	probably benign	Het
Asb2	G	T	12: 103,290,135 (GRCm39)	A504E	probably damaging	Het
Atp13a1	T	A	8: 70,259,748 (GRCm39)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,112,978 (GRCm39)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm39)	T95A	probably benign	Het
Cfap210	A	T	2: 69,619,806 (GRCm39)	M1K	probably null	Het
Clrn1	T	C	3: 58,753,783 (GRCm39)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,379,873 (GRCm39)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,408,373 (GRCm39)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,428,073 (GRCm39)	I233N	possibly damaging	Het
Dsc3	T	C	18: 20,120,077 (GRCm39)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,401,460 (GRCm39)	R36S	probably damaging	Het
Fam243	T	A	16: 92,117,559 (GRCm39)	E243V	probably damaging	Het
Fmnl3	A	T	15: 99,219,709 (GRCm39)	C680S	probably damaging	Het
Focad	T	C	4: 88,275,778 (GRCm39)	L1129P	unknown	Het
Fzd3	G	A	14: 65,440,178 (GRCm39)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,766,032 (GRCm39)	I129V	probably benign	Het
Heatr1	T	C	13: 12,449,352 (GRCm39)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,623,188 (GRCm39)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,286,151 (GRCm39)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,447,084 (GRCm39)	C612S	probably damaging	Het
Il36g	T	G	2: 24,082,806 (GRCm39)	*194E	probably null	Het
Junb	T	C	8: 85,704,505 (GRCm39)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,057,243 (GRCm39)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,865,538 (GRCm39)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,323,027 (GRCm39)	T68S	probably benign	Het
Marchf1	G	T	8: 66,839,763 (GRCm39)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,333,882 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,793 (GRCm39)	S2708T	probably benign	Het
Mx1	T	C	16: 97,252,933 (GRCm39)	T396A	probably benign	Het
Naip5	A	C	13: 100,359,209 (GRCm39)	S676A	probably benign	Het
Npepl1	G	T	2: 173,963,337 (GRCm39)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,956,543 (GRCm39)	M1V	probably null	Het
Nufip1	T	C	14: 76,372,340 (GRCm39)	*485Q	probably null	Het
Ocln	T	G	13: 100,642,687 (GRCm39)	D216A	possibly damaging	Het
Or10x1	A	T	1: 174,196,698 (GRCm39)	T72S	probably damaging	Het
Or1o11	C	T	17: 37,756,570 (GRCm39)	L53F	probably benign	Het
Or4f57	A	G	2: 111,791,175 (GRCm39)	M81T	probably damaging	Het
Or55b4	G	A	7: 102,133,586 (GRCm39)	S247F	probably damaging	Het
Ptprq	A	T	10: 107,359,374 (GRCm39)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rfx8	T	C	1: 39,727,779 (GRCm39)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,979,541 (GRCm39)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,430,931 (GRCm39)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,312 (GRCm39)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,809,317 (GRCm39)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,098,809 (GRCm39)	K12E	possibly damaging	Het
Tent2	T	C	13: 93,312,055 (GRCm39)	D215G	probably damaging	Het
Tmcc2	C	T	1: 132,285,429 (GRCm39)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,398,587 (GRCm39)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,741,513 (GRCm39)	L732P	probably damaging	Het
Utrn	T	A	10: 12,540,795 (GRCm39)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,193,816 (GRCm39)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,142,112 (GRCm39)	M3K	possibly damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
R2697:U2af2	UTSW	7	5,070,545 (GRCm39)	missense	probably benign	0.00
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
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'- TTAAGTGACTCAGGCCTGCC -3'
(R):5'- TCTGCCCATCTTCTTCAAGAGG -3'

Sequencing Primer
(F):5'- GTGATGTCTCGCTTCTGTGCC -3'
(R):5'- GGAAAGTCCCCAGCCAGC -3'

Posted On

2017-02-28