Incidental Mutation 'IGL01612:Pan3'
| ID |
92177 |
| 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: 0.313)
|
| Stock # |
IGL01612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 147390052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000176600]
|
| AlphaFold |
Q640Q5 |
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000176202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176466
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176596
|
| Predicted Effect |
probably benign
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 benign
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 |
probably benign
Transcript: ENSMUST00000200885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202884
|
| 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: ENSMUST00000177327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201799
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(15) : Gene trapped(15)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
| Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,471 (GRCm39) |
D514G |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,069 (GRCm39) |
Q313* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
| Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
| Ift80 |
T |
G |
3: 68,870,996 (GRCm39) |
N200T |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
| Lrfn2 |
G |
T |
17: 49,377,425 (GRCm39) |
V169L |
possibly damaging |
Het |
| Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
| Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
| Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
| Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
| Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
| Sh2b2 |
T |
G |
5: 136,260,656 (GRCm39) |
I187L |
probably benign |
Het |
| Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
| Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,422 (GRCm39) |
S45T |
possibly damaging |
Het |
| Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
IGL02328: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 |
2013-12-09 |
Incidental Mutation