Incidental Mutation 'IGL03190:Prdm5'
ID |
412632 |
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 # |
IGL03190
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 65833116 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 |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
probably 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 |
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 |
2016-08-02 |