Incidental Mutation 'IGL03377:Prdm5'
| ID |
420554 |
| 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 # |
IGL03377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65836457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 256
(H256R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000031976
AA Change: H256R
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
AA Change: H256R
| 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 |
noncoding transcript
Transcript: ENSMUST00000158207
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172638
AA Change: H256R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
AA Change: H256R
| 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 |
|---|
| Abcg3 |
T |
A |
5: 105,096,256 (GRCm39) |
I489L |
probably benign |
Het |
| Acox3 |
T |
C |
5: 35,751,676 (GRCm39) |
L237P |
probably damaging |
Het |
| Ahi1 |
T |
G |
10: 20,893,903 (GRCm39) |
I878S |
possibly damaging |
Het |
| Alox15 |
T |
A |
11: 70,240,488 (GRCm39) |
Y231F |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,238,700 (GRCm39) |
K342M |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,519 (GRCm39) |
I150M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,958 (GRCm39) |
Y822H |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,581,754 (GRCm39) |
Y628H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,449,056 (GRCm39) |
Y141N |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,116 (GRCm39) |
V166A |
probably damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,671,259 (GRCm39) |
A126T |
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,674,755 (GRCm39) |
E409G |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,678,456 (GRCm39) |
I621V |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,536,181 (GRCm39) |
|
probably null |
Het |
| Epha2 |
T |
A |
4: 141,049,723 (GRCm39) |
S776R |
probably benign |
Het |
| Fam107b |
A |
T |
2: 3,779,481 (GRCm39) |
E52V |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,381 (GRCm39) |
N18S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,968,597 (GRCm39) |
F460I |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,800,247 (GRCm39) |
I329N |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,783,848 (GRCm39) |
S254G |
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,489,478 (GRCm39) |
H688Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,890,937 (GRCm39) |
E898G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,019,021 (GRCm39) |
D368E |
probably benign |
Het |
| Gucy1a1 |
T |
A |
3: 82,013,322 (GRCm39) |
H440L |
probably damaging |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,377 (GRCm39) |
D113V |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,727,964 (GRCm39) |
E554* |
probably null |
Het |
| Itpr2 |
T |
A |
6: 146,231,256 (GRCm39) |
T1135S |
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,231,213 (GRCm39) |
V1182G |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,189,492 (GRCm39) |
I69T |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,345 (GRCm39) |
K354* |
probably null |
Het |
| Krt222 |
T |
A |
11: 99,127,339 (GRCm39) |
K159* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,529,369 (GRCm39) |
E2004G |
possibly damaging |
Het |
| Man2a2 |
A |
T |
7: 80,008,800 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,595,962 (GRCm39) |
F963L |
possibly damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,930,943 (GRCm39) |
E744G |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,028,644 (GRCm39) |
S140P |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,344,878 (GRCm39) |
F331L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,890,699 (GRCm39) |
G1798W |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,589 (GRCm39) |
V298D |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,353,341 (GRCm39) |
P110L |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,347,747 (GRCm39) |
|
probably null |
Het |
| Ralgps1 |
A |
G |
2: 33,062,473 (GRCm39) |
Y267H |
probably damaging |
Het |
| Rfpl4 |
T |
G |
7: 5,113,464 (GRCm39) |
Y239S |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,846,953 (GRCm39) |
M592L |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,012 (GRCm39) |
H32L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,735 (GRCm39) |
T660S |
unknown |
Het |
| Slc26a2 |
T |
C |
18: 61,331,658 (GRCm39) |
N591S |
probably damaging |
Het |
| Slc9b2 |
C |
T |
3: 135,042,119 (GRCm39) |
A466V |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,180,492 (GRCm39) |
T637S |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,533,338 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,259,594 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,817 (GRCm39) |
M207V |
possibly damaging |
Het |
| Wdcp |
T |
G |
12: 4,900,691 (GRCm39) |
Y182* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,531,416 (GRCm39) |
T105A |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,913,168 (GRCm39) |
K30R |
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 |
|
|
IGL03239:Prdm5
|
APN |
6 |
65,863,062 (GRCm39) |
splice site |
probably benign |
|
|
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