Incidental Mutation 'IGL03252:Puf60'
| ID |
414569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Puf60
|
| Ensembl Gene |
ENSMUSG00000002524 |
| Gene Name |
poly-U binding splicing factor 60 |
| Synonyms |
2410104I19Rik, 2810454F19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL03252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75942031-75952773 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75943699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002599]
[ENSMUST00000002603]
[ENSMUST00000063747]
[ENSMUST00000100527]
[ENSMUST00000109946]
[ENSMUST00000227316]
[ENSMUST00000230924]
|
| AlphaFold |
Q3UEB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002599
AA Change: D224G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524
AA Change: D224G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
RRM
|
118 |
191 |
1.21e-22 |
SMART |
|
RRM
|
215 |
288 |
1.6e-22 |
SMART |
|
low complexity region
|
290 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
420 |
N/A |
INTRINSIC |
|
RRM
|
451 |
533 |
7.68e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002603
|
| SMART Domains |
Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
58 |
80 |
1.99e0 |
SMART |
|
LRR
|
81 |
104 |
2.54e2 |
SMART |
|
LRR
|
127 |
149 |
3.56e2 |
SMART |
|
LRR
|
150 |
172 |
2.33e1 |
SMART |
|
LRR
|
173 |
195 |
2.45e0 |
SMART |
|
LRR_TYP
|
196 |
218 |
7.78e-3 |
SMART |
|
LRR
|
219 |
241 |
7.79e0 |
SMART |
|
LRR
|
242 |
265 |
1.41e0 |
SMART |
|
LRR
|
288 |
310 |
2.47e2 |
SMART |
|
LRR_TYP
|
311 |
334 |
2.36e-2 |
SMART |
|
LRR
|
335 |
356 |
7.8e1 |
SMART |
|
LRR
|
357 |
380 |
1.22e2 |
SMART |
|
low complexity region
|
455 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
685 |
N/A |
INTRINSIC |
|
PDZ
|
722 |
801 |
2e-23 |
SMART |
|
low complexity region
|
822 |
837 |
N/A |
INTRINSIC |
|
PDZ
|
856 |
936 |
1.23e-23 |
SMART |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
978 |
N/A |
INTRINSIC |
|
PDZ
|
998 |
1079 |
6.7e-25 |
SMART |
|
PDZ
|
1095 |
1178 |
3.88e-21 |
SMART |
|
low complexity region
|
1306 |
1321 |
N/A |
INTRINSIC |
|
coiled coil region
|
1390 |
1420 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1464 |
N/A |
INTRINSIC |
|
low complexity region
|
1498 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1549 |
1560 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1665 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063747
|
| SMART Domains |
Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
58 |
80 |
1.99e0 |
SMART |
|
LRR
|
81 |
104 |
2.54e2 |
SMART |
|
LRR
|
127 |
149 |
3.56e2 |
SMART |
|
LRR
|
150 |
172 |
2.33e1 |
SMART |
|
LRR
|
173 |
195 |
2.45e0 |
SMART |
|
LRR_TYP
|
196 |
218 |
7.78e-3 |
SMART |
|
LRR
|
219 |
241 |
7.79e0 |
SMART |
|
LRR
|
242 |
265 |
1.41e0 |
SMART |
|
LRR
|
288 |
310 |
2.47e2 |
SMART |
|
LRR_TYP
|
311 |
334 |
2.36e-2 |
SMART |
|
LRR
|
335 |
356 |
7.8e1 |
SMART |
|
LRR
|
357 |
380 |
1.22e2 |
SMART |
|
low complexity region
|
455 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
685 |
N/A |
INTRINSIC |
|
PDZ
|
722 |
801 |
2e-23 |
SMART |
|
low complexity region
|
822 |
837 |
N/A |
INTRINSIC |
|
PDZ
|
856 |
936 |
1.23e-23 |
SMART |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
978 |
N/A |
INTRINSIC |
|
PDZ
|
998 |
1079 |
6.7e-25 |
SMART |
|
PDZ
|
1095 |
1178 |
3.88e-21 |
SMART |
|
low complexity region
|
1282 |
1293 |
N/A |
INTRINSIC |
|
coiled coil region
|
1362 |
1392 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1532 |
N/A |
INTRINSIC |
|
low complexity region
|
1595 |
1612 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100527
AA Change: D241G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524
AA Change: D241G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
RRM
|
135 |
208 |
1.21e-22 |
SMART |
|
RRM
|
232 |
305 |
1.6e-22 |
SMART |
|
low complexity region
|
307 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
RRM
|
468 |
550 |
7.68e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109946
|
| SMART Domains |
Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
58 |
80 |
1.99e0 |
SMART |
|
LRR
|
81 |
104 |
2.54e2 |
SMART |
|
LRR
|
127 |
149 |
3.56e2 |
SMART |
|
LRR
|
150 |
172 |
2.33e1 |
SMART |
|
LRR
|
173 |
195 |
2.45e0 |
SMART |
|
LRR_TYP
|
196 |
218 |
7.78e-3 |
SMART |
|
LRR
|
219 |
241 |
7.79e0 |
SMART |
|
LRR
|
242 |
265 |
1.41e0 |
SMART |
|
LRR
|
288 |
310 |
2.47e2 |
SMART |
|
LRR_TYP
|
311 |
334 |
2.36e-2 |
SMART |
|
LRR
|
335 |
356 |
7.8e1 |
SMART |
|
LRR
|
357 |
380 |
1.22e2 |
SMART |
|
low complexity region
|
455 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
685 |
N/A |
INTRINSIC |
|
PDZ
|
722 |
801 |
2e-23 |
SMART |
|
low complexity region
|
822 |
837 |
N/A |
INTRINSIC |
|
PDZ
|
856 |
936 |
1.23e-23 |
SMART |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
978 |
N/A |
INTRINSIC |
|
PDZ
|
998 |
1079 |
6.7e-25 |
SMART |
|
PDZ
|
1095 |
1178 |
3.88e-21 |
SMART |
|
low complexity region
|
1282 |
1293 |
N/A |
INTRINSIC |
|
coiled coil region
|
1362 |
1392 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1532 |
N/A |
INTRINSIC |
|
low complexity region
|
1620 |
1637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230968
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galnt2 |
A |
G |
11: 95,764,757 (GRCm39) |
S237P |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,059,509 (GRCm39) |
H71R |
possibly damaging |
Het |
| Calml3 |
T |
A |
13: 3,853,759 (GRCm39) |
K149* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,275,619 (GRCm39) |
W20R |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Elf3 |
T |
C |
1: 135,182,691 (GRCm39) |
T345A |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 28,197,606 (GRCm39) |
|
probably benign |
Het |
| Gm10375 |
C |
T |
14: 43,842,289 (GRCm39) |
C147Y |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,539,916 (GRCm39) |
R13G |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,945,943 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
G |
T |
12: 113,324,184 (GRCm39) |
P101H |
unknown |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,710 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,481 (GRCm39) |
N254S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,143,042 (GRCm39) |
D990V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,745 (GRCm39) |
F394I |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,525,364 (GRCm39) |
Q601* |
probably null |
Het |
| Or4k37 |
T |
A |
2: 111,159,125 (GRCm39) |
Y120* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,594 (GRCm39) |
V126I |
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,212,348 (GRCm39) |
P980S |
probably benign |
Het |
| Pus7l |
T |
A |
15: 94,423,691 (GRCm39) |
H586L |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,315,748 (GRCm39) |
S585P |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,574,990 (GRCm39) |
D207V |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,402,431 (GRCm39) |
I165T |
probably benign |
Het |
| Sult2a3 |
A |
G |
7: 13,801,559 (GRCm39) |
V260A |
probably damaging |
Het |
| Tas2r125 |
A |
G |
6: 132,887,553 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
T |
A |
9: 87,587,633 (GRCm39) |
I495F |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,393,163 (GRCm38) |
N274I |
possibly damaging |
Het |
| Vmn2r53 |
T |
G |
7: 12,340,318 (GRCm39) |
T52P |
probably damaging |
Het |
|
| Other mutations in Puf60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02406:Puf60
|
APN |
15 |
75,946,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02468:Puf60
|
APN |
15 |
75,947,685 (GRCm39) |
splice site |
probably benign |
|
|
IGL03256:Puf60
|
APN |
15 |
75,942,445 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03344:Puf60
|
APN |
15 |
75,942,229 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0194:Puf60
|
UTSW |
15 |
75,942,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Puf60
|
UTSW |
15 |
75,942,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1746:Puf60
|
UTSW |
15 |
75,942,633 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1770:Puf60
|
UTSW |
15 |
75,942,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1782:Puf60
|
UTSW |
15 |
75,943,724 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1818:Puf60
|
UTSW |
15 |
75,943,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2172:Puf60
|
UTSW |
15 |
75,942,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Puf60
|
UTSW |
15 |
75,944,183 (GRCm39) |
splice site |
probably null |
|
|
R5049:Puf60
|
UTSW |
15 |
75,942,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Puf60
|
UTSW |
15 |
75,947,663 (GRCm39) |
missense |
probably benign |
|
|
R7199:Puf60
|
UTSW |
15 |
75,943,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7240:Puf60
|
UTSW |
15 |
75,944,388 (GRCm39) |
unclassified |
probably benign |
|
|
R8784:Puf60
|
UTSW |
15 |
75,949,525 (GRCm39) |
missense |
unknown |
|
|
R9058:Puf60
|
UTSW |
15 |
75,944,382 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9058:Puf60
|
UTSW |
15 |
75,942,425 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2016-08-02 |
Incidental Mutation