Incidental Mutation 'IGL02457:Prdm5'
| ID |
294416 |
| 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 # |
IGL02457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65858100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 388
(L388Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031973]
[ENSMUST00000031976]
[ENSMUST00000081219]
[ENSMUST00000172638]
|
| AlphaFold |
Q9CXE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031973
AA Change: L204Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913
AA Change: L204Q
| 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: L388Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
AA Change: L388Q
| 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 damaging
Transcript: ENSMUST00000172638
AA Change: L388Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
AA Change: L388Q
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
G |
2: 181,136,127 (GRCm39) |
D343G |
probably benign |
Het |
| Acot10 |
T |
C |
15: 20,666,229 (GRCm39) |
S171G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 26,054,160 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,677,562 (GRCm39) |
M492T |
probably damaging |
Het |
| Akap4 |
A |
C |
X: 6,943,707 (GRCm39) |
N670T |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,299 (GRCm39) |
S55P |
possibly damaging |
Het |
| Bend3 |
A |
T |
10: 43,385,946 (GRCm39) |
E113V |
probably damaging |
Het |
| Ccdc158 |
A |
C |
5: 92,797,907 (GRCm39) |
I411S |
probably damaging |
Het |
| Cfap97 |
G |
T |
8: 46,623,315 (GRCm39) |
C235F |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,121,715 (GRCm39) |
N45D |
probably benign |
Het |
| Cripto |
C |
T |
9: 110,771,691 (GRCm39) |
C32Y |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Defb38 |
T |
C |
8: 19,076,552 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
| Ecsit |
A |
G |
9: 21,989,500 (GRCm39) |
S14P |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,962,296 (GRCm39) |
F106L |
probably benign |
Het |
| Erich5 |
G |
T |
15: 34,470,999 (GRCm39) |
G76V |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,120,939 (GRCm39) |
L432P |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,765,808 (GRCm39) |
F698L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,428,470 (GRCm39) |
S2866T |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,662,073 (GRCm39) |
V334I |
probably benign |
Het |
| Hprt1 |
T |
A |
X: 52,091,010 (GRCm39) |
H60Q |
probably benign |
Het |
| Kirrel2 |
T |
C |
7: 30,152,165 (GRCm39) |
N481S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lilrb4b |
T |
A |
10: 51,357,334 (GRCm39) |
Y57N |
probably benign |
Het |
| Lix1l |
A |
G |
3: 96,521,792 (GRCm39) |
Y126C |
probably damaging |
Het |
| Lox |
T |
C |
18: 52,654,388 (GRCm39) |
D347G |
probably damaging |
Het |
| Mak16 |
C |
T |
8: 31,654,753 (GRCm39) |
R147Q |
possibly damaging |
Het |
| Ndst2 |
G |
A |
14: 20,779,622 (GRCm39) |
A206V |
possibly damaging |
Het |
| Or1ak2 |
A |
T |
2: 36,827,760 (GRCm39) |
I210F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,795,176 (GRCm39) |
I257N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,771 (GRCm39) |
M225V |
probably benign |
Het |
| Pofut1 |
C |
T |
2: 153,090,516 (GRCm39) |
Q137* |
probably null |
Het |
| Polr2a |
T |
C |
11: 69,634,076 (GRCm39) |
|
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,271,681 (GRCm39) |
S344P |
possibly damaging |
Het |
| Scart1 |
G |
A |
7: 139,800,308 (GRCm39) |
G30S |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,938,771 (GRCm39) |
P398L |
probably damaging |
Het |
| Sec63 |
G |
A |
10: 42,677,729 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
A |
T |
17: 53,983,989 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,002 (GRCm39) |
L291P |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,757,205 (GRCm39) |
T9A |
probably benign |
Het |
| Sp3 |
A |
G |
2: 72,801,813 (GRCm39) |
W67R |
probably damaging |
Het |
| Ssxb9 |
A |
C |
X: 21,041,234 (GRCm39) |
S23A |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,292,167 (GRCm39) |
L1367S |
probably damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,990,754 (GRCm39) |
I690F |
probably damaging |
Het |
| Tmed5 |
A |
T |
5: 108,272,416 (GRCm39) |
S227R |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,803 (GRCm39) |
S814T |
probably benign |
Het |
| Trbv2 |
C |
T |
6: 41,024,905 (GRCm39) |
T107I |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,803,155 (GRCm39) |
V866A |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,762 (GRCm39) |
K905* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,539,654 (GRCm39) |
V34444A |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
| Vmn2r17 |
A |
C |
5: 109,601,012 (GRCm39) |
D770A |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,389 (GRCm39) |
|
probably benign |
Het |
| Xaf1 |
T |
C |
11: 72,194,257 (GRCm39) |
M46T |
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 |
|
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 |
Incidental Mutation