Incidental Mutation 'IGL02328:Pan3'
| ID |
288585 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pan3
|
| Ensembl Gene |
ENSMUSG00000029647 |
| Gene Name |
PAN3 poly(A) specific ribonuclease subunit |
| Synonyms |
2700050F09Rik, A430027N15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.385)
|
| Stock # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 147466933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000175807]
[ENSMUST00000176600]
|
| AlphaFold |
Q640Q5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031651
|
| SMART Domains |
Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
50 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
51 |
76 |
2.24e-3 |
SMART |
|
low complexity region
|
77 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
PDB:4BWP|B
|
391 |
829 |
1e-161 |
PDB |
|
Blast:S_TKc
|
439 |
607 |
2e-8 |
BLAST |
|
SCOP:d1pme__
|
453 |
602 |
4e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175807
|
| SMART Domains |
Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BWP|B
|
51 |
450 |
1e-134 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176596
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176600
|
| SMART Domains |
Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
50 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
51 |
76 |
2.24e-3 |
SMART |
|
low complexity region
|
77 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
389 |
N/A |
INTRINSIC |
|
PDB:4BWP|B
|
445 |
883 |
1e-161 |
PDB |
|
Blast:S_TKc
|
493 |
661 |
2e-8 |
BLAST |
|
SCOP:d1pme__
|
507 |
656 |
4e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176753
|
| SMART Domains |
Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
190 |
N/A |
INTRINSIC |
|
PDB:4BWP|B
|
246 |
684 |
1e-164 |
PDB |
|
Blast:S_TKc
|
294 |
462 |
1e-8 |
BLAST |
|
SCOP:d1pme__
|
308 |
457 |
8e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176817
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177465
|
| SMART Domains |
Protein: ENSMUSP00000134810
Gene: ENSMUSG00000029647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202732
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200885
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(15) : Gene trapped(15)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
| Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
| Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
possibly damaging |
Het |
|
| Other mutations in Pan3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Pan3
|
APN |
5 |
147,466,783 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01612:Pan3
|
APN |
5 |
147,390,052 (GRCm39) |
splice site |
probably benign |
|
|
IGL02187:Pan3
|
APN |
5 |
147,463,398 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02324:Pan3
|
APN |
5 |
147,466,933 (GRCm39) |
splice site |
probably null |
|
|
IGL02507:Pan3
|
APN |
5 |
147,463,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03144:Pan3
|
APN |
5 |
147,387,591 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Pan3
|
UTSW |
5 |
147,463,385 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2145:Pan3
|
UTSW |
5 |
147,466,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2174:Pan3
|
UTSW |
5 |
147,387,463 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2504:Pan3
|
UTSW |
5 |
147,463,846 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3106:Pan3
|
UTSW |
5 |
147,476,189 (GRCm39) |
splice site |
probably benign |
|
|
R3723:Pan3
|
UTSW |
5 |
147,440,018 (GRCm39) |
intron |
probably benign |
|
|
R3944:Pan3
|
UTSW |
5 |
147,387,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Pan3
|
UTSW |
5 |
147,479,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4647:Pan3
|
UTSW |
5 |
147,464,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Pan3
|
UTSW |
5 |
147,466,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Pan3
|
UTSW |
5 |
147,463,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5126:Pan3
|
UTSW |
5 |
147,464,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5215:Pan3
|
UTSW |
5 |
147,391,915 (GRCm39) |
splice site |
probably null |
|
|
R5317:Pan3
|
UTSW |
5 |
147,480,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5496:Pan3
|
UTSW |
5 |
147,463,938 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5687:Pan3
|
UTSW |
5 |
147,391,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Pan3
|
UTSW |
5 |
147,485,093 (GRCm39) |
unclassified |
probably benign |
|
|
R6539:Pan3
|
UTSW |
5 |
147,387,463 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7008:Pan3
|
UTSW |
5 |
147,482,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7047:Pan3
|
UTSW |
5 |
147,483,175 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7226:Pan3
|
UTSW |
5 |
147,463,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7424:Pan3
|
UTSW |
5 |
147,473,082 (GRCm39) |
splice site |
probably null |
|
|
R7453:Pan3
|
UTSW |
5 |
147,463,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8062:Pan3
|
UTSW |
5 |
147,463,960 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8786:Pan3
|
UTSW |
5 |
147,424,951 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8897:Pan3
|
UTSW |
5 |
147,387,472 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9658:Pan3
|
UTSW |
5 |
147,479,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0060:Pan3
|
UTSW |
5 |
147,479,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation