Incidental Mutation 'IGL02363:Pim3'
| ID |
290627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pim3
|
| Ensembl Gene |
ENSMUSG00000035828 |
| Gene Name |
proviral integration site 3 |
| Synonyms |
Kid1, KID-1/kinase induced by depolarization |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02363
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
88746397-88749929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88747116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 54
(V54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042818]
|
| AlphaFold |
P58750 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042818
AA Change: V54A
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044603
Gene: ENSMUSG00000035828
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
40 |
293 |
9.25e-69 |
SMART |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229969
|
| 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 belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous null mice are healthy and fertile and do not display any gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
T |
C |
2: 28,702,910 (GRCm39) |
S425P |
probably damaging |
Het |
| Comt |
T |
C |
16: 18,229,881 (GRCm39) |
D153G |
probably benign |
Het |
| Cplane1 |
A |
T |
15: 8,247,921 (GRCm39) |
H1490L |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,597,402 (GRCm39) |
I601T |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,568 (GRCm39) |
C598S |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 55,002,872 (GRCm39) |
D524Y |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,940 (GRCm39) |
E157G |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,890,847 (GRCm39) |
H1323R |
probably benign |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,421 (GRCm39) |
I32V |
probably benign |
Het |
| Il6ra |
A |
G |
3: 89,778,560 (GRCm39) |
S430P |
probably benign |
Het |
| Lama2 |
G |
T |
10: 27,242,062 (GRCm39) |
T298K |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,341,116 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,103,085 (GRCm39) |
D405G |
probably benign |
Het |
| Opn5 |
T |
C |
17: 42,868,382 (GRCm39) |
D371G |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,152,918 (GRCm39) |
A408S |
probably damaging |
Het |
| Prdm5 |
T |
C |
6: 65,771,303 (GRCm39) |
F38S |
probably damaging |
Het |
| Ptgs2 |
C |
T |
1: 149,981,460 (GRCm39) |
|
probably null |
Het |
| Rnf185 |
A |
G |
11: 3,368,015 (GRCm39) |
I221T |
possibly damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,870 (GRCm39) |
F318L |
possibly damaging |
Het |
| Spata1 |
T |
C |
3: 146,193,119 (GRCm39) |
Y124C |
possibly damaging |
Het |
| Tmie |
G |
T |
9: 110,699,821 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,886 (GRCm39) |
K429R |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,935,613 (GRCm39) |
Y388H |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,578 (GRCm39) |
Q647L |
probably benign |
Het |
|
| Other mutations in Pim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02423:Pim3
|
APN |
15 |
88,747,734 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2219:Pim3
|
UTSW |
15 |
88,747,115 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2264:Pim3
|
UTSW |
15 |
88,748,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Pim3
|
UTSW |
15 |
88,748,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Pim3
|
UTSW |
15 |
88,747,404 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5486:Pim3
|
UTSW |
15 |
88,747,425 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6759:Pim3
|
UTSW |
15 |
88,747,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Pim3
|
UTSW |
15 |
88,748,644 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation