Mutagenetix > Incidental Mutation

Incidental Mutation 'R8727:U2af2'

682536

Institutional Source

Beutler Lab

Gene Symbol

U2af2

Ensembl Gene

ENSMUSG00000030435

Gene Name

U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2

Synonyms

MMRRC Submission

068575-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5065142-5082937 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 5070432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147013 (fasta)

Gene Model

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

AlphaFold

P26369

Predicted Effect

probably benign
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: 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

unknown
Transcript: ENSMUST00000207097
AA Change: C89S

Predicted Effect

probably benign
Transcript: ENSMUST00000207498

Predicted Effect

probably benign
Transcript: ENSMUST00000209099

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adam30	C	T	3: 98,070,348 (GRCm39)	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Btbd10	A	G	7: 112,927,626 (GRCm39)	I243T	possibly damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,155,323 (GRCm39)	T1188A	probably benign	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fbxl5	A	T	5: 43,908,362 (GRCm39)		probably benign	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,086,009 (GRCm39)		probably benign	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,256,055 (GRCm39)		probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Plekhm1	A	C	11: 103,258,444 (GRCm39)	F1031L	probably damaging	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,442,541 (GRCm39)		probably benign	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rtn3	A	G	19: 7,434,726 (GRCm39)	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,911,090 (GRCm39)	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	probably benign	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
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
R8857:U2af2	UTSW	7	5,065,290 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGACAAAGGTCCCCAGTC -3'
(R):5'- TGATGTGCTCAAAGCCAGGC -3'

Sequencing Primer
(F):5'- CCTTTGACCAGAGGCGCTAAAG -3'
(R):5'- ACGTCCCAGTATTTACGC -3'

Posted On

2021-09-03