Incidental Mutation 'R9535:Prdm1'
ID |
719655 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9535 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44317608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 405
(Y405C)
|
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: Y438C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: Y438C
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: Y405C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: Y405C
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: Y420C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
A |
17: 65,141,326 (GRCm39) |
R65S |
unknown |
Het |
Abcc6 |
A |
G |
7: 45,626,687 (GRCm39) |
S1457P |
probably damaging |
Het |
Alad |
T |
C |
4: 62,428,777 (GRCm39) |
D259G |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,683,327 (GRCm39) |
D329G |
probably damaging |
Het |
Ccdc121 |
A |
G |
5: 31,644,954 (GRCm39) |
I236V |
probably benign |
Het |
Cdkal1 |
A |
G |
13: 30,034,007 (GRCm39) |
F29L |
probably benign |
Het |
Chrng |
C |
T |
1: 87,139,202 (GRCm39) |
P518S |
probably benign |
Het |
Cpa1 |
G |
T |
6: 30,641,847 (GRCm39) |
D224Y |
probably damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dennd5b |
T |
C |
6: 148,895,365 (GRCm39) |
I1222V |
probably benign |
Het |
Dnm1 |
A |
T |
2: 32,202,344 (GRCm39) |
S773T |
probably benign |
Het |
Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,586,990 (GRCm39) |
V424E |
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,297,276 (GRCm39) |
G359* |
probably null |
Het |
Krt84 |
A |
G |
15: 101,438,016 (GRCm39) |
|
probably null |
Het |
Lig4 |
C |
A |
8: 10,022,325 (GRCm39) |
C485F |
probably damaging |
Het |
Mpo |
T |
A |
11: 87,690,794 (GRCm39) |
W411R |
probably damaging |
Het |
Mpv17l |
A |
G |
16: 13,759,149 (GRCm39) |
E8G |
probably benign |
Het |
Mrps34 |
T |
C |
17: 25,114,451 (GRCm39) |
Y104H |
probably benign |
Het |
Muc15 |
T |
A |
2: 110,562,007 (GRCm39) |
W148R |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,439,995 (GRCm39) |
D134G |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,158,431 (GRCm39) |
S501P |
possibly damaging |
Het |
Pwp1 |
C |
A |
10: 85,723,958 (GRCm39) |
S486R |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,557,171 (GRCm39) |
E1556G |
probably damaging |
Het |
Rtl1 |
T |
C |
12: 109,561,698 (GRCm39) |
Q47R |
unknown |
Het |
Siglece |
A |
G |
7: 43,307,055 (GRCm39) |
F311L |
probably benign |
Het |
Slc27a3 |
A |
G |
3: 90,293,618 (GRCm39) |
L589P |
probably damaging |
Het |
Spata31e2 |
A |
C |
1: 26,721,232 (GRCm39) |
L1316* |
probably null |
Het |
Synrg |
T |
A |
11: 83,881,660 (GRCm39) |
M332K |
probably benign |
Het |
Tasor2 |
T |
A |
13: 3,623,559 (GRCm39) |
R2130S |
possibly damaging |
Het |
Tecta |
T |
A |
9: 42,270,759 (GRCm39) |
N1183I |
probably damaging |
Het |
Tmed11 |
A |
G |
5: 108,926,915 (GRCm39) |
I119T |
possibly damaging |
Het |
Ttll3 |
C |
T |
6: 113,389,834 (GRCm39) |
R740W |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,935,161 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
C |
T |
17: 21,507,418 (GRCm39) |
H179Y |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,384,825 (GRCm39) |
M298V |
possibly damaging |
Het |
Xrcc4 |
T |
A |
13: 90,089,118 (GRCm39) |
M280L |
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 |
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 |
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 |
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'- GATAAGCACCTCTTTGGGGTG -3'
(R):5'- AGAGCCTTAAGAGCTCCAGC -3'
Sequencing Primer
(F):5'- CATCGGTAGGCAGGGAACTC -3'
(R):5'- TTAAGAGCTCCAGCCCCCAC -3'
|
Posted On |
2022-07-18 |