Incidental Mutation 'IGL02980:U2af2'
| ID |
392137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
U2af2
|
| Ensembl Gene |
ENSMUSG00000030435 |
| Gene Name |
U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02980 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5065142-5082937 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5071042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 116
(I116V)
|
| 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
AA Change: I116V
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435
AA Change: I116V
| 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: I48V
|
| 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: I116V
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208419
|
| Meta Mutation Damage Score |
0.0701 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
97% (35/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,990 (GRCm39) |
I224N |
probably benign |
Het |
| Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,487 (GRCm39) |
I286T |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
| Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
| Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
| Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
| Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
| Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
| Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,412,054 (GRCm39) |
M330K |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
| Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
A |
G |
11: 44,452,484 (GRCm39) |
M488V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
| St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
| Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,842 (GRCm39) |
V444L |
probably damaging |
Het |
| Zfp931 |
C |
A |
2: 177,711,409 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GGAAATCAGACTTCTTAGTAGTGGG -3'
(R):5'- CTTGCAGGAACAGAGTCTGACG -3'
Sequencing Primer
(F):5'- ATCAGACTTCTTAGTAGTGGGTATTG -3'
(R):5'- AACAGAGTCTGACGCGTGC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation