Incidental Mutation 'IGL03239:Prdm5'
| ID |
414214 |
| 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 # |
IGL03239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 65863062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031973]
[ENSMUST00000031976]
[ENSMUST00000081219]
[ENSMUST00000172638]
|
| AlphaFold |
Q9CXE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031973
|
| SMART Domains |
Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913
| 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 benign
Transcript: ENSMUST00000031976
|
| SMART Domains |
Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
| 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 |
noncoding transcript
Transcript: ENSMUST00000061905
|
| 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 |
probably benign
Transcript: ENSMUST00000172638
|
| SMART Domains |
Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
| 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 |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,835 (GRCm39) |
Y309C |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,214,932 (GRCm39) |
V44L |
probably damaging |
Het |
| Catsperg2 |
T |
G |
7: 29,397,141 (GRCm39) |
S1121R |
probably benign |
Het |
| Ccdc190 |
G |
T |
1: 169,761,549 (GRCm39) |
R217L |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,465,005 (GRCm39) |
P619S |
possibly damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,655,796 (GRCm39) |
W498R |
probably damaging |
Het |
| Dgka |
A |
G |
10: 128,557,254 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,589 (GRCm39) |
D1471G |
unknown |
Het |
| Htr2b |
A |
G |
1: 86,027,414 (GRCm39) |
F364S |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,886 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,390,233 (GRCm39) |
T1731A |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,101 (GRCm39) |
E179G |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,916,243 (GRCm39) |
R392G |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,667 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb13 |
C |
A |
18: 37,575,888 (GRCm39) |
L89M |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,034 (GRCm39) |
Y378C |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,982,091 (GRCm39) |
D381G |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,130,138 (GRCm39) |
N434D |
probably benign |
Het |
| Usp17la |
C |
T |
7: 104,509,827 (GRCm39) |
T144I |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,970,799 (GRCm39) |
T336A |
possibly damaging |
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 |
|
IGL02363:Prdm5
|
APN |
6 |
65,771,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation