Incidental Mutation 'R4589:Pan3'
| ID |
342671 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4589 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
147366971-147485312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 147479983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 830
(I830F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031651]
[ENSMUST00000175807]
[ENSMUST00000176553]
[ENSMUST00000176600]
|
| AlphaFold |
Q640Q5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031651
AA Change: I776F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
AA Change: I776F
| 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 |
possibly damaging
Transcript: ENSMUST00000175807
AA Change: I397F
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
AA Change: I397F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BWP|B
|
51 |
450 |
1e-134 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176505
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176553
AA Change: I89F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134911
Gene: ENSMUSG00000029647
AA Change: I89F
| 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 damaging
Transcript: ENSMUST00000176600
AA Change: I830F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
AA Change: I830F
| 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: I630F
|
| SMART Domains |
Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647
AA Change: I630F
| 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 |
noncoding transcript
Transcript: ENSMUST00000177496
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(15) : Gene trapped(15)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,211,895 (GRCm39) |
V157L |
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,218,573 (GRCm39) |
T737I |
possibly damaging |
Het |
| Ada |
T |
C |
2: 163,574,868 (GRCm39) |
K90E |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,837 (GRCm39) |
L184* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,521,947 (GRCm39) |
D693G |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,738 (GRCm39) |
I277F |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,039 (GRCm39) |
S223P |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,855 (GRCm39) |
S67G |
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,539 (GRCm39) |
F47L |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,117,862 (GRCm39) |
C302* |
probably null |
Het |
| Cyth1 |
C |
T |
11: 118,075,811 (GRCm39) |
V142I |
possibly damaging |
Het |
| Ddx59 |
T |
A |
1: 136,367,480 (GRCm39) |
|
probably null |
Het |
| Def6 |
G |
T |
17: 28,447,121 (GRCm39) |
R584L |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,553,743 (GRCm39) |
Y340* |
probably null |
Het |
| Eif2ak4 |
T |
G |
2: 118,247,819 (GRCm39) |
C173W |
probably damaging |
Het |
| Gm14403 |
C |
T |
2: 177,200,428 (GRCm39) |
H125Y |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,089,584 (GRCm39) |
I323V |
possibly damaging |
Het |
| Homez |
G |
T |
14: 55,094,487 (GRCm39) |
T407K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,037,910 (GRCm39) |
T763A |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,104 (GRCm39) |
W305R |
unknown |
Het |
| Il27ra |
G |
T |
8: 84,763,038 (GRCm39) |
N296K |
probably damaging |
Het |
| Lzic |
G |
T |
4: 149,572,561 (GRCm39) |
L50F |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,812,245 (GRCm39) |
V183A |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,287,693 (GRCm39) |
D731E |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,787,095 (GRCm39) |
L38P |
probably damaging |
Het |
| Mrps18a |
T |
C |
17: 46,428,899 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 87,987,460 (GRCm39) |
V200D |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,834,310 (GRCm39) |
I364F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,414,749 (GRCm39) |
S2554R |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,584,415 (GRCm39) |
C121R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,805,705 (GRCm39) |
D183E |
probably damaging |
Het |
| Odr4 |
C |
T |
1: 150,260,238 (GRCm39) |
V127I |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,305 (GRCm39) |
I284V |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,639 (GRCm39) |
F282L |
probably damaging |
Het |
| Or52h1 |
C |
A |
7: 103,828,636 (GRCm39) |
|
probably null |
Het |
| Or5d14 |
T |
C |
2: 87,880,823 (GRCm39) |
I48M |
probably benign |
Het |
| Pak6 |
T |
A |
2: 118,527,021 (GRCm39) |
I672K |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,125,628 (GRCm39) |
L181I |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,480,556 (GRCm39) |
A447T |
probably benign |
Het |
| Pitpnb |
T |
A |
5: 111,519,214 (GRCm39) |
S165T |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,590 (GRCm39) |
Y67C |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,688,928 (GRCm39) |
I80T |
probably damaging |
Het |
| Pnma1 |
A |
G |
12: 84,194,235 (GRCm39) |
I156T |
probably benign |
Het |
| Prss21 |
G |
T |
17: 24,091,796 (GRCm39) |
D255Y |
possibly damaging |
Het |
| Prune1 |
T |
A |
3: 95,169,642 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rab7b |
T |
C |
1: 131,633,385 (GRCm39) |
F78L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,269,844 (GRCm39) |
Y92N |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,768,361 (GRCm39) |
S400P |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,705,478 (GRCm39) |
G792V |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,170,092 (GRCm39) |
E206G |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,840,679 (GRCm39) |
S454P |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,326 (GRCm39) |
L140Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,047,401 (GRCm39) |
H159Q |
probably damaging |
Het |
| Tmed6 |
C |
T |
8: 107,790,793 (GRCm39) |
V85I |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,454,204 (GRCm39) |
L290* |
probably null |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,596 (GRCm39) |
S90P |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,822 (GRCm39) |
T194A |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,192,548 (GRCm39) |
I42F |
probably damaging |
Het |
| Vps35 |
G |
A |
8: 86,014,331 (GRCm39) |
P106L |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,906,661 (GRCm39) |
Y69N |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,465 (GRCm39) |
P388S |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,817,261 (GRCm39) |
A902V |
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 |
|
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'- CCCTTCCAATTTCTAATTAACTGGGG -3'
(R):5'- CTTGTATGTGCACACAGGGC -3'
Sequencing Primer
(F):5'- AATGTTAACCCCCCAGGT -3'
(R):5'- TATGTGCACACAGGGCAGGAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation