Incidental Mutation 'R0855:Prdm14'
| ID |
82674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm14
|
| Ensembl Gene |
ENSMUSG00000042414 |
| Gene Name |
PR domain containing 14 |
| Synonyms |
|
| MMRRC Submission |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
13183681-13197387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13195761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 100
(N100I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047577]
|
| AlphaFold |
E9Q3T6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047577
AA Change: N100I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: N100I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
SET
|
244 |
362 |
2.8e-11 |
SMART |
|
low complexity region
|
373 |
389 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
390 |
410 |
1.4e-1 |
SMART |
|
ZnF_C2H2
|
422 |
445 |
5.3e-5 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
3.2e-7 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
507 |
530 |
8.1e-5 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
4.6e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased primordial germ cell numbers, absent germ cells, and sterility in both males and females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
| Other mutations in Prdm14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02149:Prdm14
|
APN |
1 |
13,195,663 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0099:Prdm14
|
UTSW |
1 |
13,189,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0243:Prdm14
|
UTSW |
1 |
13,192,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Prdm14
|
UTSW |
1 |
13,189,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0576:Prdm14
|
UTSW |
1 |
13,195,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0781:Prdm14
|
UTSW |
1 |
13,184,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0791:Prdm14
|
UTSW |
1 |
13,195,968 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0792:Prdm14
|
UTSW |
1 |
13,195,968 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0905:Prdm14
|
UTSW |
1 |
13,195,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Prdm14
|
UTSW |
1 |
13,194,756 (GRCm39) |
splice site |
probably benign |
|
|
R1747:Prdm14
|
UTSW |
1 |
13,192,627 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1771:Prdm14
|
UTSW |
1 |
13,189,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Prdm14
|
UTSW |
1 |
13,195,954 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2170:Prdm14
|
UTSW |
1 |
13,192,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Prdm14
|
UTSW |
1 |
13,195,857 (GRCm39) |
missense |
probably benign |
|
|
R4948:Prdm14
|
UTSW |
1 |
13,192,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Prdm14
|
UTSW |
1 |
13,189,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Prdm14
|
UTSW |
1 |
13,192,645 (GRCm39) |
missense |
probably benign |
|
|
R7452:Prdm14
|
UTSW |
1 |
13,195,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8066:Prdm14
|
UTSW |
1 |
13,184,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8265:Prdm14
|
UTSW |
1 |
13,184,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Prdm14
|
UTSW |
1 |
13,192,707 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9597:Prdm14
|
UTSW |
1 |
13,192,657 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9658:Prdm14
|
UTSW |
1 |
13,189,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCATACAGAACGAAGCTCAG -3'
(R):5'- CAGTCACTTTAGGAACCTCGCCAC -3'
Sequencing Primer
(F):5'- GACTGGGACGACTTAATTCCATC -3'
(R):5'- CCACCGAGGAGGAGTTTCAAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation