Mutagenetix > Incidental Mutation

Incidental Mutation 'R6290:U2af2'

508363

Institutional Source

Beutler Lab

Gene Symbol

U2af2

Ensembl Gene

ENSMUSG00000030435

Gene Name

U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2

Synonyms

MMRRC Submission

044460-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5065142-5082937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5078683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 421 (V421L)

Ref Sequence

ENSEMBL: ENSMUSP00000147013 (fasta)

Gene Model

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

AlphaFold

P26369

Predicted Effect

probably benign
Transcript: ENSMUST00000005041
AA Change: V417L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435
AA Change: V417L

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

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 benign
Transcript: ENSMUST00000165399
AA Change: V253L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131458
Gene: ENSMUSG00000030435
AA Change: V253L

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: ENSMUST00000207498

Predicted Effect

probably benign
Transcript: ENSMUST00000209099
AA Change: V421L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207926

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	T	A	1: 173,289,681 (GRCm39)	I208N	possibly damaging	Het
Albfm1	T	C	5: 90,740,864 (GRCm39)		probably null	Het
Ank3	A	C	10: 69,827,198 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,259,036 (GRCm39)	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,890,068 (GRCm39)	L649*	probably null	Het
Atp7b	C	T	8: 22,510,836 (GRCm39)	G437S	probably damaging	Het
Cep89	G	A	7: 35,119,688 (GRCm39)	G349D	probably damaging	Het
Cntn6	T	A	6: 104,744,851 (GRCm39)	Y315N	probably damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Csrp2	T	C	10: 110,767,844 (GRCm39)	C10R	probably damaging	Het
Cux1	T	C	5: 136,340,412 (GRCm39)	N625D	probably damaging	Het
Dnah9	T	C	11: 65,732,201 (GRCm39)	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,373,896 (GRCm39)	C265R	probably damaging	Het
Dse	A	G	10: 34,028,336 (GRCm39)	M918T	probably benign	Het
Duox1	C	A	2: 122,164,288 (GRCm39)	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332 (GRCm39)	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,821,617 (GRCm39)	V311D	probably benign	Het
Eps15	T	A	4: 109,220,395 (GRCm39)	M534K	probably benign	Het
Gpr182	A	T	10: 127,586,893 (GRCm39)	F19L	probably benign	Het
Ifi214	T	A	1: 173,356,983 (GRCm39)	D40V	probably damaging	Het
Klhl2	A	G	8: 65,264,351 (GRCm39)	V121A	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Mylk	T	A	16: 34,715,213 (GRCm39)	S514T	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naga	T	G	15: 82,219,057 (GRCm39)	D230A	possibly damaging	Het
Napsa	A	G	7: 44,230,761 (GRCm39)	N70D	probably benign	Het
Nup210l	T	A	3: 90,027,216 (GRCm39)	Y199*	probably null	Het
Olfml2b	A	T	1: 170,477,359 (GRCm39)	K165*	probably null	Het
Or1j20	C	T	2: 36,760,448 (GRCm39)	P290L	probably damaging	Het
Paxip1	A	T	5: 27,970,576 (GRCm39)		probably null	Het
Pcyox1	T	A	6: 86,365,881 (GRCm39)	K444N	probably benign	Het
Pikfyve	T	A	1: 65,242,084 (GRCm39)		probably null	Het
Ppp6r3	T	C	19: 3,544,011 (GRCm39)	I335V	probably benign	Het
Prkcz	A	G	4: 155,440,956 (GRCm39)	S71P	probably damaging	Het
Psg19	C	T	7: 18,528,014 (GRCm39)	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,517,769 (GRCm39)	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,885,106 (GRCm39)	I478L	probably benign	Het
Slc45a1	A	T	4: 150,727,096 (GRCm39)	N174K	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smpdl3b	T	A	4: 132,465,586 (GRCm39)	H278L	possibly damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Synpo2	A	T	3: 122,910,701 (GRCm39)	S315T	probably damaging	Het
Taok3	A	G	5: 117,342,433 (GRCm39)	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,207,679 (GRCm39)	D49G	probably benign	Het
Tbr1	T	C	2: 61,635,394 (GRCm39)	S115P	probably benign	Het
Trim67	C	T	8: 125,549,918 (GRCm39)	T516I	probably benign	Het
Trrap	T	A	5: 144,741,828 (GRCm39)	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,815,884 (GRCm39)	I166T	probably benign	Het
Tspan8	T	A	10: 115,663,729 (GRCm39)	C22S	probably damaging	Het
Tyro3	T	C	2: 119,647,321 (GRCm39)	S813P	probably benign	Het
Vmn1r77	T	C	7: 11,775,736 (GRCm39)	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,012,873 (GRCm39)	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r56	A	T	7: 12,428,809 (GRCm39)	C486S	probably damaging	Het
Vwa8	A	G	14: 79,331,772 (GRCm39)		probably null	Het
Xirp1	T	G	9: 119,847,791 (GRCm39)	E364A	probably benign	Het
Zbp1	T	C	2: 173,057,634 (GRCm39)	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,280,612 (GRCm39)	V109F	possibly 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
R5916:U2af2	UTSW	7	5,082,179 (GRCm39)	critical splice acceptor site	probably null
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'- GTGACAGATCTGTTCTCCCTGAC -3'
(R):5'- TTTCTCCACTATAGGCCCCAAG -3'

Sequencing Primer
(F):5'- GACACCTGTGACCCTTCAAGTG -3'
(R):5'- GACCCCAGGAGACCTTGATC -3'

Posted On

2018-03-15