Incidental Mutation 'PIT4576001:Prdm1'
ID |
556381 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
PIT4576001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 44334504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
AlphaFold |
Q60636 |
Predicted Effect |
silent
Transcript: ENSMUST00000039174
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151
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 null
Transcript: ENSMUST00000105490
AA Change: M1V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: M1V
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 benign
Transcript: ENSMUST00000218369
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 72.8%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
T |
C |
6: 65,929,983 (GRCm39) |
S73P |
probably damaging |
Het |
5730596B20Rik |
G |
T |
6: 52,156,449 (GRCm39) |
V172F |
unknown |
Het |
Brms1 |
A |
G |
19: 5,096,229 (GRCm39) |
K69E |
probably damaging |
Het |
Calr4 |
A |
C |
4: 109,093,053 (GRCm39) |
Q44H |
possibly damaging |
Het |
Dnmt1 |
G |
A |
9: 20,823,071 (GRCm39) |
T1242I |
probably benign |
Het |
Dyrk3 |
A |
G |
1: 131,057,918 (GRCm39) |
V85A |
probably damaging |
Het |
Eif2a |
T |
C |
3: 58,452,974 (GRCm39) |
Y250H |
probably damaging |
Het |
Esco1 |
T |
C |
18: 10,572,093 (GRCm39) |
E749G |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,477,682 (GRCm39) |
I2243V |
probably damaging |
Het |
Gh |
A |
T |
11: 106,191,659 (GRCm39) |
F128I |
possibly damaging |
Het |
Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
G |
13: 9,041,763 (GRCm39) |
Y150H |
probably damaging |
Het |
H2ac15 |
C |
A |
13: 21,937,781 (GRCm39) |
D73Y |
probably damaging |
Het |
Itga8 |
A |
G |
2: 12,234,903 (GRCm39) |
S452P |
probably benign |
Het |
Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,367,114 (GRCm39) |
E2549G |
probably benign |
Het |
Mindy1 |
C |
T |
3: 95,195,380 (GRCm39) |
A41V |
probably benign |
Het |
Mypn |
T |
A |
10: 62,955,850 (GRCm39) |
K1201M |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,224,543 (GRCm39) |
S906P |
probably damaging |
Het |
Npy1r |
T |
C |
8: 67,156,874 (GRCm39) |
V98A |
probably benign |
Het |
Pate2 |
A |
G |
9: 35,581,889 (GRCm39) |
Y61C |
probably damaging |
Het |
Pfdn2 |
A |
G |
1: 171,173,310 (GRCm39) |
S11G |
unknown |
Het |
Prelp |
A |
G |
1: 133,842,903 (GRCm39) |
S81P |
possibly damaging |
Het |
Prss12 |
T |
C |
3: 123,280,764 (GRCm39) |
V483A |
probably damaging |
Het |
Prss43 |
G |
C |
9: 110,656,955 (GRCm39) |
V154L |
probably damaging |
Het |
Ptpru |
G |
A |
4: 131,529,855 (GRCm39) |
R618* |
probably null |
Het |
Rpa1 |
A |
G |
11: 75,203,984 (GRCm39) |
S288P |
probably damaging |
Het |
Semp2l1 |
T |
C |
1: 32,585,553 (GRCm39) |
E119G |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,920,081 (GRCm39) |
F817L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,910,564 (GRCm39) |
S545C |
possibly damaging |
Het |
Slit1 |
A |
T |
19: 41,612,988 (GRCm39) |
V844D |
possibly damaging |
Het |
Suclg2 |
G |
T |
6: 95,563,999 (GRCm39) |
D195E |
possibly damaging |
Het |
Tln1 |
G |
T |
4: 43,539,998 (GRCm39) |
A1537D |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,472,027 (GRCm39) |
D73G |
probably damaging |
Het |
Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
Usp19 |
T |
A |
9: 108,369,931 (GRCm39) |
|
probably null |
Het |
Vmn2r112 |
T |
C |
17: 22,833,912 (GRCm39) |
F527L |
probably benign |
Het |
Vmn2r93 |
T |
C |
17: 18,533,473 (GRCm39) |
V459A |
probably benign |
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 |
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 |
R5247:Prdm1
|
UTSW |
10 |
44,316,098 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGAAGCGCTGGTTTCTACTG -3'
(R):5'- TGGTAAAGAAGTCTGCGGC -3'
Sequencing Primer
(F):5'- CGCTGGTTTCTACTGAGGCTTC -3'
(R):5'- AAGAGTAGTCAGTCGCTCGCTC -3'
|
Posted On |
2019-06-07 |