Incidental Mutation 'R7047:Pan3'
ID |
547367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pan3
|
Ensembl Gene |
ENSMUSG00000029647 |
Gene Name |
PAN3 poly(A) specific ribonuclease subunit |
Synonyms |
2700050F09Rik, A430027N15Rik |
MMRRC Submission |
045145-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.313)
|
Stock # |
R7047 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 147483175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 452
(G452D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000175807]
[ENSMUST00000176553]
[ENSMUST00000176600]
|
AlphaFold |
Q640Q5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031651
AA Change: G831D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031651 Gene: ENSMUSG00000029647 AA Change: G831D
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 damaging
Transcript: ENSMUST00000175807
AA Change: G452D
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135729 Gene: ENSMUSG00000029647 AA Change: G452D
Domain | Start | End | E-Value | Type |
PDB:4BWP|B
|
51 |
450 |
1e-134 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176553
|
SMART Domains |
Protein: ENSMUSP00000134911 Gene: ENSMUSG00000029647
Domain | Start | End | E-Value | Type |
PDB:4BWP|B
|
1 |
142 |
5e-66 |
PDB |
low complexity region
|
161 |
171 |
N/A |
INTRINSIC |
|
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: ENSMUST00000177465
|
SMART Domains |
Protein: ENSMUSP00000134810 Gene: ENSMUSG00000029647
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
49 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
All alleles(15) : Gene trapped(15)
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
T |
14: 32,382,131 (GRCm39) |
I1278N |
possibly damaging |
Het |
Adcy5 |
T |
A |
16: 35,087,585 (GRCm39) |
L482Q |
probably damaging |
Het |
Adora2a |
A |
G |
10: 75,162,145 (GRCm39) |
I95V |
probably damaging |
Het |
Anapc1 |
A |
C |
2: 128,457,350 (GRCm39) |
C1887G |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,865 (GRCm39) |
|
probably null |
Het |
Capn11 |
G |
T |
17: 45,949,622 (GRCm39) |
S448* |
probably null |
Het |
Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
A |
19: 38,048,539 (GRCm39) |
V65D |
possibly damaging |
Het |
Col5a1 |
A |
G |
2: 27,818,096 (GRCm39) |
K107R |
unknown |
Het |
Dbh |
T |
A |
2: 27,055,622 (GRCm39) |
I32N |
possibly damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,802,489 (GRCm39) |
N13K |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,422 (GRCm39) |
N221S |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,570,002 (GRCm39) |
F470L |
probably damaging |
Het |
Filip1 |
T |
A |
9: 79,760,916 (GRCm39) |
Q206L |
probably damaging |
Het |
Garin1b |
T |
A |
6: 29,323,809 (GRCm39) |
L178H |
probably damaging |
Het |
Gpr63 |
G |
T |
4: 25,007,320 (GRCm39) |
A15S |
probably benign |
Het |
Grhl3 |
T |
C |
4: 135,276,551 (GRCm39) |
|
probably null |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,433,238 (GRCm39) |
Y193* |
probably null |
Het |
Ints1 |
A |
C |
5: 139,744,226 (GRCm39) |
L1512* |
probably null |
Het |
Kat2b |
A |
G |
17: 53,970,597 (GRCm39) |
Q661R |
probably benign |
Het |
Kat6a |
A |
G |
8: 23,428,554 (GRCm39) |
N1303S |
possibly damaging |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,532,177 (GRCm39) |
|
probably benign |
Het |
Mixl1 |
A |
G |
1: 180,524,183 (GRCm39) |
|
probably null |
Het |
Mocs1 |
T |
C |
17: 49,759,887 (GRCm39) |
|
probably null |
Het |
Ms4a15 |
T |
G |
19: 10,962,236 (GRCm39) |
N36T |
probably damaging |
Het |
Msr1 |
G |
A |
8: 40,095,657 (GRCm39) |
T2I |
possibly damaging |
Het |
Nlgn1 |
A |
C |
3: 25,490,199 (GRCm39) |
Y509* |
probably null |
Het |
Nsmce1 |
C |
A |
7: 125,090,606 (GRCm39) |
G4C |
probably benign |
Het |
Or4c113 |
A |
T |
2: 88,885,490 (GRCm39) |
F93L |
probably damaging |
Het |
Or51v15-ps1 |
A |
G |
7: 103,278,918 (GRCm39) |
V83A |
probably damaging |
Het |
Pcyox1 |
G |
T |
6: 86,365,891 (GRCm39) |
P441H |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,904,099 (GRCm39) |
V273A |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,591,148 (GRCm39) |
E181G |
possibly damaging |
Het |
Ptgfr |
A |
T |
3: 151,541,178 (GRCm39) |
I110N |
possibly damaging |
Het |
Rab40c |
A |
C |
17: 26,138,458 (GRCm39) |
V8G |
probably damaging |
Het |
Rasal3 |
T |
A |
17: 32,615,458 (GRCm39) |
Y460F |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,494,477 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,839,286 (GRCm39) |
N496Y |
possibly damaging |
Het |
Sacs |
A |
T |
14: 61,450,451 (GRCm39) |
I4166F |
probably damaging |
Het |
Sh2d3c |
T |
C |
2: 32,611,172 (GRCm39) |
M1T |
probably null |
Het |
Smarca2 |
C |
T |
19: 26,646,555 (GRCm39) |
S651L |
possibly damaging |
Het |
Sned1 |
A |
T |
1: 93,213,540 (GRCm39) |
R1204S |
possibly damaging |
Het |
Spata31d1b |
T |
C |
13: 59,860,249 (GRCm39) |
Y41H |
probably damaging |
Het |
Stab2 |
C |
T |
10: 86,694,016 (GRCm39) |
C2075Y |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,844,294 (GRCm39) |
Q90L |
possibly damaging |
Het |
Tll2 |
C |
T |
19: 41,074,679 (GRCm39) |
G945S |
probably damaging |
Het |
Tmbim7 |
A |
T |
5: 3,720,112 (GRCm39) |
T116S |
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,242,667 (GRCm39) |
C72* |
probably null |
Het |
Usp17le |
T |
A |
7: 104,417,640 (GRCm39) |
T501S |
probably benign |
Het |
Wnt5b |
T |
A |
6: 119,425,217 (GRCm39) |
|
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAATGCCGTGTAGTGCATAG -3'
(R):5'- CGACAGTGTCTGAGTCTATCCAG -3'
Sequencing Primer
(F):5'- CCGTGTAGTGCATAGTCCTTATGAG -3'
(R):5'- CTGAGTCTATCCAGTGTAAAGTACC -3'
|
Posted On |
2019-05-13 |