Incidental Mutation 'IGL02368:Pum3'
| ID |
290804 |
| 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 # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
27366098-27407225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27403357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 48
(V48A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076219
AA Change: V48A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: V48A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pum3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00795:Pum3
|
APN |
19 |
27,399,758 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2015-04-16 |
Incidental Mutation