Incidental Mutation 'IGL02363:Prdm5'
ID |
290622 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prdm5
|
Ensembl Gene |
ENSMUSG00000029913 |
Gene Name |
PR domain containing 5 |
Synonyms |
6530401I24Rik, PFM2, E130112L17Rik, 4432417F03Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02363
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65771303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 38
(F38S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031973]
[ENSMUST00000031976]
[ENSMUST00000081219]
[ENSMUST00000172638]
|
AlphaFold |
Q9CXE0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031973
AA Change: F38S
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031973 Gene: ENSMUSG00000029913 AA Change: F38S
Domain | Start | End | E-Value | Type |
PDB:3EP0|B
|
4 |
101 |
1e-11 |
PDB |
Blast:SET
|
8 |
100 |
4e-64 |
BLAST |
ZnF_C2H2
|
105 |
127 |
3.16e-3 |
SMART |
ZnF_C2H2
|
133 |
155 |
8.81e-2 |
SMART |
ZnF_C2H2
|
161 |
183 |
1.95e-3 |
SMART |
ZnF_C2H2
|
189 |
211 |
6.78e-3 |
SMART |
ZnF_C2H2
|
217 |
240 |
1.2e-3 |
SMART |
ZnF_C2H2
|
246 |
268 |
4.87e-4 |
SMART |
ZnF_C2H2
|
274 |
296 |
2.4e-3 |
SMART |
ZnF_C2H2
|
302 |
324 |
2.43e-4 |
SMART |
ZnF_C2H2
|
330 |
352 |
3.21e-4 |
SMART |
ZnF_C2H2
|
358 |
380 |
1.45e-2 |
SMART |
ZnF_C2H2
|
387 |
410 |
1.43e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031976
AA Change: F38S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031976 Gene: ENSMUSG00000029913 AA Change: F38S
Domain | Start | End | E-Value | Type |
SET
|
8 |
130 |
2.01e-4 |
SMART |
ZnF_C2H2
|
167 |
190 |
3.39e-3 |
SMART |
ZnF_C2H2
|
199 |
221 |
1.04e-3 |
SMART |
ZnF_C2H2
|
231 |
256 |
1.26e-2 |
SMART |
ZnF_C2H2
|
264 |
286 |
1.95e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
3.16e-3 |
SMART |
ZnF_C2H2
|
317 |
339 |
8.81e-2 |
SMART |
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
ZnF_C2H2
|
373 |
395 |
6.78e-3 |
SMART |
ZnF_C2H2
|
401 |
424 |
1.2e-3 |
SMART |
ZnF_C2H2
|
430 |
452 |
4.87e-4 |
SMART |
ZnF_C2H2
|
458 |
480 |
2.4e-3 |
SMART |
ZnF_C2H2
|
486 |
508 |
2.43e-4 |
SMART |
ZnF_C2H2
|
514 |
536 |
3.21e-4 |
SMART |
ZnF_C2H2
|
542 |
564 |
1.45e-2 |
SMART |
ZnF_C2H2
|
571 |
594 |
1.43e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081219
|
SMART Domains |
Protein: ENSMUSP00000079979 Gene: ENSMUSG00000029913
Domain | Start | End | E-Value | Type |
Blast:SET
|
8 |
72 |
2e-34 |
BLAST |
ZnF_C2H2
|
80 |
102 |
2.4e-3 |
SMART |
ZnF_C2H2
|
108 |
130 |
2.43e-4 |
SMART |
ZnF_C2H2
|
136 |
158 |
3.21e-4 |
SMART |
ZnF_C2H2
|
164 |
186 |
1.45e-2 |
SMART |
ZnF_C2H2
|
193 |
216 |
1.43e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172638
AA Change: F38S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133423 Gene: ENSMUSG00000029913 AA Change: F38S
Domain | Start | End | E-Value | Type |
SET
|
8 |
130 |
2.01e-4 |
SMART |
ZnF_C2H2
|
167 |
190 |
3.39e-3 |
SMART |
ZnF_C2H2
|
199 |
221 |
1.04e-3 |
SMART |
ZnF_C2H2
|
231 |
256 |
1.26e-2 |
SMART |
ZnF_C2H2
|
264 |
286 |
1.95e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
3.16e-3 |
SMART |
ZnF_C2H2
|
317 |
339 |
8.81e-2 |
SMART |
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
ZnF_C2H2
|
373 |
395 |
6.78e-3 |
SMART |
ZnF_C2H2
|
401 |
424 |
1.2e-3 |
SMART |
ZnF_C2H2
|
430 |
452 |
4.87e-4 |
SMART |
ZnF_C2H2
|
458 |
480 |
2.4e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173538
|
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 is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a hypomorphic allele display delayed bone ossification with reduced collagen fibril formation, total bone area, bone mineral content and bone mineral density. [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 |
Pim3 |
T |
C |
15: 88,747,116 (GRCm39) |
V54A |
probably benign |
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 Prdm5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01395:Prdm5
|
APN |
6 |
65,847,374 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02457:Prdm5
|
APN |
6 |
65,858,100 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03190:Prdm5
|
APN |
6 |
65,833,116 (GRCm39) |
splice site |
probably benign |
|
IGL03239:Prdm5
|
APN |
6 |
65,863,062 (GRCm39) |
splice site |
probably benign |
|
IGL03377:Prdm5
|
APN |
6 |
65,836,457 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0329:Prdm5
|
UTSW |
6 |
65,839,887 (GRCm39) |
splice site |
probably benign |
|
R0926:Prdm5
|
UTSW |
6 |
65,860,531 (GRCm39) |
missense |
probably damaging |
0.99 |
R1458:Prdm5
|
UTSW |
6 |
65,860,585 (GRCm39) |
missense |
probably damaging |
0.99 |
R1859:Prdm5
|
UTSW |
6 |
65,808,263 (GRCm39) |
missense |
probably benign |
0.03 |
R1956:Prdm5
|
UTSW |
6 |
65,913,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R1996:Prdm5
|
UTSW |
6 |
65,913,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Prdm5
|
UTSW |
6 |
65,913,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Prdm5
|
UTSW |
6 |
65,808,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R3082:Prdm5
|
UTSW |
6 |
65,913,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R3819:Prdm5
|
UTSW |
6 |
65,913,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4411:Prdm5
|
UTSW |
6 |
65,878,771 (GRCm39) |
nonsense |
probably null |
|
R4981:Prdm5
|
UTSW |
6 |
65,847,446 (GRCm39) |
missense |
probably damaging |
0.99 |
R5077:Prdm5
|
UTSW |
6 |
65,756,158 (GRCm39) |
missense |
probably damaging |
0.97 |
R5089:Prdm5
|
UTSW |
6 |
65,833,074 (GRCm39) |
missense |
probably benign |
0.01 |
R5138:Prdm5
|
UTSW |
6 |
65,833,086 (GRCm39) |
nonsense |
probably null |
|
R5735:Prdm5
|
UTSW |
6 |
65,904,974 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6355:Prdm5
|
UTSW |
6 |
65,860,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R6743:Prdm5
|
UTSW |
6 |
65,860,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R6769:Prdm5
|
UTSW |
6 |
65,839,920 (GRCm39) |
missense |
probably damaging |
0.98 |
R7216:Prdm5
|
UTSW |
6 |
65,904,967 (GRCm39) |
nonsense |
probably null |
|
R7305:Prdm5
|
UTSW |
6 |
65,808,244 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7510:Prdm5
|
UTSW |
6 |
65,904,976 (GRCm39) |
missense |
probably damaging |
0.97 |
R8270:Prdm5
|
UTSW |
6 |
65,913,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R8529:Prdm5
|
UTSW |
6 |
65,878,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Prdm5
|
UTSW |
6 |
65,860,569 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9283:Prdm5
|
UTSW |
6 |
65,858,060 (GRCm39) |
missense |
probably damaging |
0.98 |
R9427:Prdm5
|
UTSW |
6 |
65,771,321 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9477:Prdm5
|
UTSW |
6 |
65,771,342 (GRCm39) |
missense |
possibly damaging |
0.48 |
X0017:Prdm5
|
UTSW |
6 |
65,846,246 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2015-04-16 |