Incidental Mutation 'R3106:Pan3'
| ID |
263053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan3
|
| Ensembl Gene |
ENSMUSG00000029647 |
| Gene Name |
PAN3 poly(A) specific ribonuclease subunit |
| Synonyms |
2700050F09Rik, A430027N15Rik |
| MMRRC Submission |
040580-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.385)
|
| Stock # |
R3106 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 147476189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000175807]
[ENSMUST00000176553]
[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 |
probably benign
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 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 |
noncoding transcript
Transcript: ENSMUST00000176856
|
| 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: ENSMUST00000177496
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (53/53) |
| 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 |
|---|
| Abca15 |
A |
T |
7: 119,995,856 (GRCm39) |
E1331V |
possibly damaging |
Het |
| Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
A |
7: 66,774,820 (GRCm39) |
S980T |
probably damaging |
Het |
| Adarb1 |
C |
A |
10: 77,157,591 (GRCm39) |
K285N |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,276 (GRCm39) |
S160P |
probably benign |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Btf3 |
T |
G |
13: 98,447,496 (GRCm39) |
E145D |
probably benign |
Het |
| Ccdc184 |
G |
T |
15: 98,066,482 (GRCm39) |
A96S |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,248 (GRCm39) |
Y332H |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,551,918 (GRCm39) |
K68R |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,875,406 (GRCm39) |
T280M |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,813,246 (GRCm39) |
L662F |
probably benign |
Het |
| Dennd3 |
C |
A |
15: 73,436,973 (GRCm39) |
S118* |
probably null |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,524,625 (GRCm39) |
K249* |
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,529,174 (GRCm39) |
E301G |
probably benign |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Ezh1 |
A |
C |
11: 101,086,468 (GRCm39) |
C575W |
probably damaging |
Het |
| Fam187b |
A |
G |
7: 30,676,665 (GRCm39) |
D58G |
probably benign |
Het |
| Galnt4 |
T |
C |
10: 98,945,243 (GRCm39) |
Y323H |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| H1f2 |
G |
T |
13: 23,922,883 (GRCm39) |
A18S |
unknown |
Het |
| Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Lemd2 |
C |
A |
17: 27,420,644 (GRCm39) |
L256F |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Nphs1 |
C |
A |
7: 30,166,965 (GRCm39) |
S724* |
probably null |
Het |
| Or4g17 |
A |
G |
2: 111,209,840 (GRCm39) |
N165S |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,523,849 (GRCm39) |
I126V |
probably damaging |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,235,212 (GRCm39) |
|
probably null |
Het |
| Plekha7 |
C |
T |
7: 115,763,639 (GRCm39) |
R321K |
probably benign |
Het |
| Plekhg5 |
C |
T |
4: 152,196,635 (GRCm39) |
T694M |
probably damaging |
Het |
| Pramel31 |
T |
C |
4: 144,088,246 (GRCm39) |
V14A |
probably benign |
Het |
| Ptpn20 |
A |
G |
14: 33,334,253 (GRCm39) |
I44V |
probably benign |
Het |
| Ptprj |
T |
A |
2: 90,270,975 (GRCm39) |
H1251L |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,203 (GRCm39) |
T74A |
probably benign |
Het |
| Sppl2b |
A |
G |
10: 80,703,325 (GRCm39) |
E529G |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,765,035 (GRCm39) |
N8D |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,067,133 (GRCm39) |
L531S |
probably damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Vmn2r129 |
T |
A |
4: 156,685,730 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr19 |
T |
C |
5: 65,359,966 (GRCm39) |
S24P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTTGCTGACCATTCATG -3'
(R):5'- ACATATGCCTACTTTTGTGCAC -3'
Sequencing Primer
(F):5'- ATTCATGGGGTTCTTCTCTGTC -3'
(R):5'- GCACAGTTGTACTCAGGAGATTATGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation