Incidental Mutation 'R2170:Prdm14'
| ID |
237406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm14
|
| Ensembl Gene |
ENSMUSG00000042414 |
| Gene Name |
PR domain containing 14 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
13183681-13197387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13192684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 352
(L352F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047577]
|
| AlphaFold |
E9Q3T6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047577
AA Change: L352F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: L352F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
| Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
| Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
| Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
| Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
| Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
| Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
| Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
possibly damaging |
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 |
|
R0855:Prdm14
|
UTSW |
1 |
13,195,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CACAATATGCTGGCATGCG -3'
(R):5'- TTGAAGATGGTCACCTGAGC -3'
Sequencing Primer
(F):5'- CAATATGCTGGCATGCGTTCTTTG -3'
(R):5'- CTGAGCCATTTTATCGACGGCAAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation