Incidental Mutation 'R5317:Pan3'
ID |
405867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pan3
|
Ensembl Gene |
ENSMUSG00000029647 |
Gene Name |
PAN3 poly(A) specific ribonuclease subunit |
Synonyms |
2700050F09Rik, A430027N15Rik |
MMRRC Submission |
042900-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.385)
|
Stock # |
R5317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 147480020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000031651]
[ENSMUST00000031651]
[ENSMUST00000031651]
[ENSMUST00000175807]
[ENSMUST00000175807]
[ENSMUST00000175807]
[ENSMUST00000175807]
[ENSMUST00000176553]
[ENSMUST00000176553]
[ENSMUST00000176553]
[ENSMUST00000176553]
[ENSMUST00000176600]
[ENSMUST00000176600]
[ENSMUST00000176600]
[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: 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: 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: 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 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 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 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 |
noncoding transcript
Transcript: ENSMUST00000176505
|
Predicted Effect |
probably null
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 null
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 null
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 null
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: 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: 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: 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: 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 |
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 |
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 |
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 |
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 |
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: ENSMUST00000176856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177496
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(15) : Gene trapped(15)
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arih1 |
A |
C |
9: 59,300,619 (GRCm39) |
H542Q |
probably benign |
Het |
Ccn4 |
T |
G |
15: 66,789,131 (GRCm39) |
S206A |
probably benign |
Het |
Cnot8 |
T |
C |
11: 58,004,029 (GRCm39) |
S155P |
probably damaging |
Het |
Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,370,141 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
Tas2r140 |
A |
G |
6: 133,032,543 (GRCm39) |
Y72H |
probably benign |
Het |
Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,114,247 (GRCm39) |
S190P |
probably damaging |
Het |
Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCACTTTTCAGAGCCCTTC -3'
(R):5'- CCTTGTATGTGCACACAGGG -3'
Sequencing Primer
(F):5'- CCTTCCAATTTCTAATTAACTGGGG -3'
(R):5'- TATGTGCACACAGGGCAGGAG -3'
|
Posted On |
2016-07-22 |