Incidental Mutation 'IGL00987:Parn'
| ID |
29211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parn
|
| Ensembl Gene |
ENSMUSG00000022685 |
| Gene Name |
poly(A)-specific ribonuclease (deadenylation nuclease) |
| Synonyms |
DAN, 1200003I18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
13355828-13486035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13485467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 10
(I10V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023365]
[ENSMUST00000035426]
[ENSMUST00000058884]
[ENSMUST00000069281]
[ENSMUST00000127973]
[ENSMUST00000229042]
[ENSMUST00000231003]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023365
|
| SMART Domains |
Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
73 |
2.71e-6 |
SMART |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
SAM
|
179 |
249 |
1.82e-6 |
SMART |
|
transmembrane domain
|
361 |
380 |
N/A |
INTRINSIC |
|
transmembrane domain
|
407 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035426
|
| SMART Domains |
Protein: ENSMUSP00000041742
Gene: ENSMUSG00000079737
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
171 |
N/A |
INTRINSIC |
|
Pfam:Lge1
|
226 |
301 |
8e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058884
AA Change: I10V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: I10V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
3 |
383 |
2.7e-86 |
PFAM |
|
Pfam:R3H
|
172 |
236 |
2.8e-13 |
PFAM |
|
Pfam:RNA_bind
|
430 |
508 |
2.2e-37 |
PFAM |
|
low complexity region
|
564 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069281
|
| SMART Domains |
Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
73 |
2.71e-6 |
SMART |
|
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
|
PDB:1V85|A
|
98 |
123 |
2e-8 |
PDB |
|
Blast:SAM
|
98 |
124 |
2e-8 |
BLAST |
|
transmembrane domain
|
236 |
255 |
N/A |
INTRINSIC |
|
transmembrane domain
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127973
|
| SMART Domains |
Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
73 |
2.71e-6 |
SMART |
|
transmembrane domain
|
142 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229042
AA Change: I10V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231003
AA Change: I10V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230905
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
| Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Parn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02030:Parn
|
APN |
16 |
13,482,514 (GRCm39) |
splice site |
probably null |
|
|
IGL02179:Parn
|
APN |
16 |
13,485,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02336:Parn
|
APN |
16 |
13,384,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
arlette
|
UTSW |
16 |
13,424,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Parn
|
UTSW |
16 |
13,425,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4651001:Parn
|
UTSW |
16 |
13,449,431 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0388:Parn
|
UTSW |
16 |
13,472,340 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0485:Parn
|
UTSW |
16 |
13,472,299 (GRCm39) |
splice site |
probably benign |
|
|
R0625:Parn
|
UTSW |
16 |
13,458,158 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1104:Parn
|
UTSW |
16 |
13,485,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1299:Parn
|
UTSW |
16 |
13,482,593 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1356:Parn
|
UTSW |
16 |
13,468,538 (GRCm39) |
nonsense |
probably null |
|
|
R2067:Parn
|
UTSW |
16 |
13,420,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Parn
|
UTSW |
16 |
13,420,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Parn
|
UTSW |
16 |
13,384,518 (GRCm39) |
missense |
probably benign |
|
|
R4473:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4474:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4475:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4476:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4665:Parn
|
UTSW |
16 |
13,358,967 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4795:Parn
|
UTSW |
16 |
13,424,066 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5122:Parn
|
UTSW |
16 |
13,472,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5226:Parn
|
UTSW |
16 |
13,443,416 (GRCm39) |
missense |
probably benign |
|
|
R5355:Parn
|
UTSW |
16 |
13,485,886 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5570:Parn
|
UTSW |
16 |
13,483,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5979:Parn
|
UTSW |
16 |
13,424,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Parn
|
UTSW |
16 |
13,485,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Parn
|
UTSW |
16 |
13,469,675 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6493:Parn
|
UTSW |
16 |
13,474,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Parn
|
UTSW |
16 |
13,443,998 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7278:Parn
|
UTSW |
16 |
13,443,927 (GRCm39) |
splice site |
probably null |
|
|
R7391:Parn
|
UTSW |
16 |
13,485,870 (GRCm39) |
splice site |
probably null |
|
|
R7706:Parn
|
UTSW |
16 |
13,425,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Parn
|
UTSW |
16 |
13,359,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8317:Parn
|
UTSW |
16 |
13,358,964 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8326:Parn
|
UTSW |
16 |
13,483,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8419:Parn
|
UTSW |
16 |
13,466,338 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8433:Parn
|
UTSW |
16 |
13,485,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8475:Parn
|
UTSW |
16 |
13,425,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8847:Parn
|
UTSW |
16 |
13,446,270 (GRCm39) |
nonsense |
probably null |
|
|
R8958:Parn
|
UTSW |
16 |
13,466,322 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8988:Parn
|
UTSW |
16 |
13,466,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9277:Parn
|
UTSW |
16 |
13,482,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9476:Parn
|
UTSW |
16 |
13,358,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9510:Parn
|
UTSW |
16 |
13,358,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2013-04-17 |
Incidental Mutation