Incidental Mutation 'IGL03177:Pum3'
| ID |
412051 |
| 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: 0.957)
|
| Stock # |
IGL03177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
27366098-27407225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27367612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 639
(I639N)
|
| 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: I639N
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: I639N
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
| H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
| Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
| Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
| Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
| Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
| Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
| Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
| Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
| Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
| P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
| Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
| Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
| Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation