Incidental Mutation 'IGL00795:Pum3'
| ID |
12567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pum3
|
| Ensembl Gene |
ENSMUSG00000041360 |
| Gene Name |
pumilio RNA-binding family member 3 |
| Synonyms |
1110069H02Rik, D19Bwg1357e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL00795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
27366098-27407225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27399758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 225
(Y225F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076219
AA Change: Y225F
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: Y225F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
106 |
121 |
N/A |
INTRINSIC |
|
Pumilio
|
165 |
200 |
1.8e-3 |
SMART |
|
Pumilio
|
201 |
236 |
1.36e-3 |
SMART |
|
Pumilio
|
237 |
273 |
3.72e0 |
SMART |
|
Pumilio
|
350 |
385 |
2.54e-3 |
SMART |
|
Pumilio
|
386 |
422 |
7.89e0 |
SMART |
|
Pumilio
|
424 |
460 |
5.5e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the evolutionarily conserved Pumilio and Fem-3 mRNA-binding factor family of proteins, which are characterized by tandem 36 amino acid pumilio homolog domains and which function in diverse biological processes. This protein belongs to a group of atypical Pumilio and Fem-3 mRNA-binding factor proteins, whose members are distinguished from other Pumilio and Fem-3 mRNA-binding factor proteins by a novel protein fold with 11 pumilio homolog domains and an ability to bind to DNA and single- and double-stranded RNA without sequence specificity. In mouse, lower levels of gene expression have been correlated with increased testicular germ cell tumors. A pseudogene of this gene is found on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,007,353 (GRCm39) |
N308S |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,663,735 (GRCm39) |
V222A |
probably benign |
Het |
| Ccdc91 |
G |
T |
6: 147,409,305 (GRCm39) |
D4Y |
probably damaging |
Het |
| Defb21 |
A |
G |
2: 152,416,665 (GRCm39) |
D47G |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,984,460 (GRCm39) |
C1607F |
probably benign |
Het |
| Hycc2 |
C |
T |
1: 58,591,338 (GRCm39) |
E102K |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,389 (GRCm39) |
L401P |
probably damaging |
Het |
| Kif18a |
A |
T |
2: 109,123,365 (GRCm39) |
N213I |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,588,234 (GRCm39) |
D19G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,812,434 (GRCm39) |
I32N |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,888,191 (GRCm39) |
T295S |
probably damaging |
Het |
| Tas2r131 |
G |
A |
6: 132,934,554 (GRCm39) |
T85I |
possibly damaging |
Het |
| Tbcd |
T |
G |
11: 121,507,758 (GRCm39) |
I1193S |
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,235 (GRCm39) |
A82T |
probably benign |
Het |
|
| Other mutations in Pum3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02368:Pum3
|
APN |
19 |
27,403,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03036:Pum3
|
APN |
19 |
27,398,713 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03177:Pum3
|
APN |
19 |
27,367,612 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0242:Pum3
|
UTSW |
19 |
27,400,155 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Pum3
|
UTSW |
19 |
27,376,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2860:Pum3
|
UTSW |
19 |
27,397,525 (GRCm39) |
splice site |
probably benign |
|
|
R4417:Pum3
|
UTSW |
19 |
27,400,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4576:Pum3
|
UTSW |
19 |
27,393,308 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5145:Pum3
|
UTSW |
19 |
27,377,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Pum3
|
UTSW |
19 |
27,389,659 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5473:Pum3
|
UTSW |
19 |
27,396,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5733:Pum3
|
UTSW |
19 |
27,398,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5964:Pum3
|
UTSW |
19 |
27,397,451 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6516:Pum3
|
UTSW |
19 |
27,403,408 (GRCm39) |
missense |
probably benign |
|
|
R7184:Pum3
|
UTSW |
19 |
27,403,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7216:Pum3
|
UTSW |
19 |
27,401,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Pum3
|
UTSW |
19 |
27,371,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7390:Pum3
|
UTSW |
19 |
27,401,642 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7761:Pum3
|
UTSW |
19 |
27,404,492 (GRCm39) |
missense |
probably benign |
|
|
R7881:Pum3
|
UTSW |
19 |
27,373,728 (GRCm39) |
nonsense |
probably null |
|
|
R7991:Pum3
|
UTSW |
19 |
27,389,620 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8300:Pum3
|
UTSW |
19 |
27,399,773 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8790:Pum3
|
UTSW |
19 |
27,394,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Pum3
|
UTSW |
19 |
27,398,713 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8903:Pum3
|
UTSW |
19 |
27,397,457 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9042:Pum3
|
UTSW |
19 |
27,399,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Pum3
|
UTSW |
19 |
27,376,336 (GRCm39) |
missense |
probably benign |
|
|
R9488:Pum3
|
UTSW |
19 |
27,394,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:Pum3
|
UTSW |
19 |
27,403,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0009:Pum3
|
UTSW |
19 |
27,400,102 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Pum3
|
UTSW |
19 |
27,403,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation