Incidental Mutation 'R5733:Pum3'
| ID |
451564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum3
|
| Ensembl Gene |
ENSMUSG00000041360 |
| Gene Name |
pumilio RNA-binding family member 3 |
| Synonyms |
1110069H02Rik, D19Bwg1357e |
| MMRRC Submission |
043193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5733 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
27366098-27407225 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 27398695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076219
|
| SMART Domains |
Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
| Anxa3 |
T |
A |
5: 96,968,331 (GRCm39) |
I128N |
probably damaging |
Het |
| Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
| Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
| Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
| Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 89,998,257 (GRCm39) |
T549K |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
| Knop1 |
C |
A |
7: 118,445,305 (GRCm39) |
G220C |
probably damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
| Mpzl1 |
A |
T |
1: 165,433,180 (GRCm39) |
I157K |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
| Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
| Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
| Or6b1 |
C |
T |
6: 42,815,180 (GRCm39) |
R122C |
probably damaging |
Het |
| Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
| Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,468,026 (GRCm39) |
Y658H |
possibly damaging |
Het |
| Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACACACAGATCCCAAGG -3'
(R):5'- AAGTAAGCCACAAGTTGCGG -3'
Sequencing Primer
(F):5'- TTGGAGGCAACATTCTGGAG -3'
(R):5'- CCACAAGTTGCGGAGATAATC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation