Incidental Mutation 'IGL02187:Pan3'
| ID |
283681 |
| 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 # |
IGL02187
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 147463398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 440
(I440T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000175807]
[ENSMUST00000176600]
|
| AlphaFold |
Q640Q5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031651
AA Change: I440T
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
AA Change: I440T
| 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 benign
Transcript: ENSMUST00000175807
AA Change: I100T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
AA Change: I100T
| 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 benign
Transcript: ENSMUST00000176600
AA Change: I494T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
AA Change: I494T
| 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 |
unknown
Transcript: ENSMUST00000176753
AA Change: I294T
|
| SMART Domains |
Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647
AA Change: I294T
| 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 |
unknown
Transcript: ENSMUST00000200885
AA Change: I135T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202732
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202559
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(15) : Gene trapped(15)
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,439,826 (GRCm39) |
E922D |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,658,035 (GRCm39) |
M2015K |
probably damaging |
Het |
| C8a |
C |
A |
4: 104,719,933 (GRCm39) |
R15L |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,420,791 (GRCm39) |
V47A |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,881,523 (GRCm39) |
T1081I |
possibly damaging |
Het |
| Cenatac |
C |
T |
9: 44,322,084 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
T |
A |
4: 133,858,616 (GRCm39) |
M752L |
possibly damaging |
Het |
| Cxcr3 |
T |
A |
X: 100,776,483 (GRCm39) |
S60C |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,336,013 (GRCm39) |
N208I |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,424,649 (GRCm39) |
I223T |
probably benign |
Het |
| Dennd6a |
A |
G |
14: 26,328,081 (GRCm39) |
I35V |
probably benign |
Het |
| Emb |
T |
G |
13: 117,405,507 (GRCm39) |
|
probably benign |
Het |
| Fbxo3 |
T |
C |
2: 103,858,295 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fnbp1l |
G |
A |
3: 122,362,449 (GRCm39) |
R120* |
probably null |
Het |
| Galnt2 |
T |
C |
8: 125,032,245 (GRCm39) |
|
probably benign |
Het |
| Gckr |
T |
C |
5: 31,464,768 (GRCm39) |
|
probably benign |
Het |
| Gpr101 |
A |
G |
X: 56,546,841 (GRCm39) |
F103S |
probably damaging |
Het |
| Gprasp1 |
T |
A |
X: 134,699,912 (GRCm39) |
V35E |
probably damaging |
Het |
| Ift80 |
C |
A |
3: 68,892,789 (GRCm39) |
W133L |
probably damaging |
Het |
| Impdh1 |
C |
A |
6: 29,207,086 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,275,938 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,269,657 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
C |
T |
1: 160,937,280 (GRCm39) |
V32I |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,055,389 (GRCm39) |
S519P |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,294 (GRCm39) |
N100S |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,965,797 (GRCm39) |
I1203T |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,460,185 (GRCm39) |
I394V |
possibly damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,393 (GRCm39) |
T96S |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,241,134 (GRCm39) |
L174P |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,668 (GRCm39) |
L62P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,119,592 (GRCm39) |
S972P |
probably damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,801,472 (GRCm39) |
T404K |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,904,363 (GRCm39) |
N238S |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,257,809 (GRCm39) |
Y94H |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,291 (GRCm39) |
I815T |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,968,554 (GRCm39) |
T582A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,957,605 (GRCm39) |
L389S |
probably damaging |
Het |
| Srp54b |
T |
A |
12: 55,299,560 (GRCm39) |
M297K |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zmym4 |
T |
A |
4: 126,764,066 (GRCm39) |
I1325L |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,753,982 (GRCm39) |
R226L |
probably 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation