Incidental Mutation 'R5247:Prdm1'
| ID |
401200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm1
|
| Ensembl Gene |
ENSMUSG00000038151 |
| Gene Name |
PR domain containing 1, with ZNF domain |
| Synonyms |
Blimp-1, PRDI-BF1, Blimp1, b2b1765Clo |
| MMRRC Submission |
042818-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44316098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 679
(H679Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
| AlphaFold |
Q60636 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039174
AA Change: H712Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: H712Q
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
118 |
239 |
1.1e-19 |
SMART |
|
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
556 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
690 |
712 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
718 |
738 |
1.12e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105490
AA Change: H679Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: H679Q
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
85 |
206 |
1.1e-19 |
SMART |
|
low complexity region
|
326 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
523 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
573 |
595 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
601 |
623 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
629 |
651 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
657 |
679 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
685 |
705 |
1.12e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218369
AA Change: H694Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality and impaired primordial germ cell development, while heterozygotes display a decreased numbers of primordial germ cells but normal migration. Conditional mutants display impaired plasma cell and pre-plasmamemory B cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,719,343 (GRCm39) |
V502E |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,874 (GRCm39) |
L585* |
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,790,241 (GRCm39) |
S475P |
probably damaging |
Het |
| Cacng1 |
T |
C |
11: 107,607,105 (GRCm39) |
H38R |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,096,166 (GRCm39) |
L1644* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,304,946 (GRCm39) |
V2168A |
probably benign |
Het |
| Cnot4 |
C |
T |
6: 35,028,351 (GRCm39) |
V422I |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,838,013 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,993 (GRCm39) |
I680F |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,955,402 (GRCm39) |
C287S |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,401 (GRCm39) |
D133E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,524 (GRCm39) |
L52P |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,855,126 (GRCm39) |
E99G |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,648,794 (GRCm39) |
I1574L |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,240,339 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Hck |
A |
T |
2: 152,976,615 (GRCm39) |
K250* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,341,833 (GRCm39) |
E1874G |
probably benign |
Het |
| Igf2 |
G |
T |
7: 142,207,668 (GRCm39) |
A143D |
possibly damaging |
Het |
| Isg20l2 |
A |
G |
3: 87,838,920 (GRCm39) |
N44D |
possibly damaging |
Het |
| Kdm7a |
T |
A |
6: 39,121,390 (GRCm39) |
Q855L |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,815,507 (GRCm39) |
S434P |
possibly damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,425 (GRCm39) |
N119K |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,203,706 (GRCm39) |
M375V |
unknown |
Het |
| Lpcat4 |
A |
G |
2: 112,072,860 (GRCm39) |
H173R |
possibly damaging |
Het |
| Mapk13 |
A |
T |
17: 28,996,725 (GRCm39) |
Q264L |
probably benign |
Het |
| Mrps18c |
C |
G |
5: 100,946,659 (GRCm39) |
C8W |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nlrp4b |
T |
A |
7: 10,448,145 (GRCm39) |
I116N |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,504 (GRCm39) |
T161A |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,610,778 (GRCm39) |
F101Y |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,352,950 (GRCm39) |
S839C |
probably damaging |
Het |
| Rps19 |
T |
A |
7: 24,584,878 (GRCm39) |
S36T |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,034,389 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,067,183 (GRCm39) |
M152K |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Stx18 |
A |
T |
5: 38,263,977 (GRCm39) |
Y141F |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,382,111 (GRCm39) |
|
probably null |
Het |
| Tle7 |
T |
C |
8: 110,837,209 (GRCm39) |
F299S |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,571 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,558,766 (GRCm39) |
T29705M |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
G |
9: 108,373,264 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Prdm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Prdm1
|
APN |
10 |
44,317,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01331:Prdm1
|
APN |
10 |
44,317,970 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02064:Prdm1
|
APN |
10 |
44,317,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Prdm1
|
APN |
10 |
44,315,880 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02944:Prdm1
|
APN |
10 |
44,317,807 (GRCm39) |
missense |
probably benign |
|
|
IGL03295:Prdm1
|
APN |
10 |
44,315,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4576001:Prdm1
|
UTSW |
10 |
44,334,504 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
|
R0008:Prdm1
|
UTSW |
10 |
44,317,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Prdm1
|
UTSW |
10 |
44,316,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Prdm1
|
UTSW |
10 |
44,332,692 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0284:Prdm1
|
UTSW |
10 |
44,332,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Prdm1
|
UTSW |
10 |
44,315,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Prdm1
|
UTSW |
10 |
44,326,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Prdm1
|
UTSW |
10 |
44,315,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Prdm1
|
UTSW |
10 |
44,315,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Prdm1
|
UTSW |
10 |
44,318,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1519:Prdm1
|
UTSW |
10 |
44,315,982 (GRCm39) |
nonsense |
probably null |
|
|
R1886:Prdm1
|
UTSW |
10 |
44,315,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2070:Prdm1
|
UTSW |
10 |
44,317,408 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2508:Prdm1
|
UTSW |
10 |
44,322,803 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3087:Prdm1
|
UTSW |
10 |
44,322,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3150:Prdm1
|
UTSW |
10 |
44,334,488 (GRCm39) |
splice site |
probably null |
|
|
R4165:Prdm1
|
UTSW |
10 |
44,317,572 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4490:Prdm1
|
UTSW |
10 |
44,322,903 (GRCm39) |
nonsense |
probably null |
|
|
R4647:Prdm1
|
UTSW |
10 |
44,315,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4911:Prdm1
|
UTSW |
10 |
44,318,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4925:Prdm1
|
UTSW |
10 |
44,316,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Prdm1
|
UTSW |
10 |
44,326,221 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5792:Prdm1
|
UTSW |
10 |
44,326,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Prdm1
|
UTSW |
10 |
44,326,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Prdm1
|
UTSW |
10 |
44,322,782 (GRCm39) |
splice site |
probably null |
|
|
R7196:Prdm1
|
UTSW |
10 |
44,332,988 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7270:Prdm1
|
UTSW |
10 |
44,317,566 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7384:Prdm1
|
UTSW |
10 |
44,334,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7822:Prdm1
|
UTSW |
10 |
44,334,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8809:Prdm1
|
UTSW |
10 |
44,315,749 (GRCm39) |
missense |
probably benign |
|
|
R8827:Prdm1
|
UTSW |
10 |
44,334,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8932:Prdm1
|
UTSW |
10 |
44,317,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8958:Prdm1
|
UTSW |
10 |
44,316,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Prdm1
|
UTSW |
10 |
44,322,997 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9020:Prdm1
|
UTSW |
10 |
44,316,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Prdm1
|
UTSW |
10 |
44,316,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Prdm1
|
UTSW |
10 |
44,316,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Prdm1
|
UTSW |
10 |
44,326,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9535:Prdm1
|
UTSW |
10 |
44,317,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Prdm1
|
UTSW |
10 |
44,317,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Prdm1
|
UTSW |
10 |
44,317,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Prdm1
|
UTSW |
10 |
44,322,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCTGATGTCGAACCTCTC -3'
(R):5'- CCCGAGGTTTCTGGCTATTG -3'
Sequencing Primer
(F):5'- CAATTTCTTCATTGATTCGGGTCAG -3'
(R):5'- GCAAACAATTAATCTGGTCTTCCCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation