Incidental Mutation 'IGL01395:Prdm5'
ID |
79399 |
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 # |
IGL01395
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65847374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 155
(H155R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031973]
[ENSMUST00000031976]
[ENSMUST00000081219]
[ENSMUST00000172638]
|
AlphaFold |
Q9CXE0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031973
AA Change: H155R
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031973 Gene: ENSMUSG00000029913 AA Change: H155R
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
AA Change: H339R
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031976 Gene: ENSMUSG00000029913 AA Change: H339R
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: H339R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133423 Gene: ENSMUSG00000029913 AA Change: H339R
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,575,880 (GRCm39) |
R52H |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,383 (GRCm39) |
Y84N |
possibly damaging |
Het |
B3gnt4 |
T |
A |
5: 123,649,131 (GRCm39) |
F165L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,198,919 (GRCm39) |
I157V |
probably benign |
Het |
Clpx |
T |
C |
9: 65,209,133 (GRCm39) |
S83P |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,812,980 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
G |
7: 144,011,464 (GRCm39) |
V115A |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,361 (GRCm39) |
V770I |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,717,164 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,338,056 (GRCm39) |
Y175* |
probably null |
Het |
Dhx58 |
C |
T |
11: 100,594,752 (GRCm39) |
G48D |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,854,979 (GRCm39) |
F178I |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,339 (GRCm39) |
I629T |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,654 (GRCm39) |
I492V |
probably benign |
Het |
Gm16505 |
G |
A |
13: 3,411,242 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
G |
A |
9: 118,364,441 (GRCm39) |
G259D |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,371,534 (GRCm39) |
H668R |
unknown |
Het |
Gucy2c |
G |
T |
6: 136,675,027 (GRCm39) |
Q1019K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,544 (GRCm39) |
|
probably null |
Het |
Jph2 |
T |
C |
2: 163,181,847 (GRCm39) |
N439S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,047 (GRCm39) |
D1249E |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,687 (GRCm39) |
V246A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,639,444 (GRCm39) |
D1295G |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,922,792 (GRCm39) |
M599K |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,635,477 (GRCm39) |
S193P |
possibly damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,165 (GRCm39) |
Q33L |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,350,225 (GRCm39) |
M514K |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,713 (GRCm39) |
F73L |
probably damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,460 (GRCm39) |
T110S |
possibly damaging |
Het |
Or9i2 |
A |
T |
19: 13,816,316 (GRCm39) |
S74T |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,216,368 (GRCm39) |
V569A |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,490,943 (GRCm39) |
H324R |
probably benign |
Het |
Prpf19 |
C |
T |
19: 10,878,375 (GRCm39) |
T287I |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Pygb |
C |
A |
2: 150,643,503 (GRCm39) |
Q97K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,118,288 (GRCm39) |
K210E |
probably benign |
Het |
Rttn |
T |
G |
18: 89,147,894 (GRCm39) |
N2182K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,728 (GRCm39) |
Q18R |
probably damaging |
Het |
Stat4 |
C |
T |
1: 52,051,033 (GRCm39) |
R31W |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,846 (GRCm39) |
C128* |
probably null |
Het |
Tm9sf3 |
T |
C |
19: 41,244,715 (GRCm39) |
E54G |
probably damaging |
Het |
Tmx1 |
A |
T |
12: 70,507,251 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,613,939 (GRCm39) |
V859E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,194,158 (GRCm39) |
D1360G |
probably damaging |
Het |
|
Other mutations in Prdm5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-11-05 |