Incidental Mutation 'R1200:Prdm1'
ID |
101307 |
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 |
039270-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1200 (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 G
at 44326126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 148
(Y148H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
AlphaFold |
Q60636 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039174
AA Change: Y166H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: Y166H
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: Y133H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: Y133H
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 |
noncoding transcript
Transcript: ENSMUST00000167340
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218369
AA Change: Y148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
Acat1 |
T |
A |
9: 53,494,810 (GRCm39) |
I361F |
possibly damaging |
Het |
Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
Flot2 |
C |
T |
11: 77,945,631 (GRCm39) |
T2M |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
Ntn5 |
G |
T |
7: 45,341,806 (GRCm39) |
V309L |
possibly damaging |
Het |
Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
Ptchd3 |
T |
C |
11: 121,722,087 (GRCm39) |
|
probably null |
Het |
Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Twf1 |
A |
T |
15: 94,484,239 (GRCm39) |
H94Q |
probably benign |
Het |
Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
Het |
Zbtb49 |
T |
C |
5: 38,370,675 (GRCm39) |
E402G |
probably damaging |
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 |
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'- AGCGGCAAACTGTTTCCTTCCC -3'
(R):5'- ACTGTCACGAAGCTTACGGCTAAC -3'
Sequencing Primer
(F):5'- TGAGATTCACAGGTAGTCCACATC -3'
(R):5'- ATACCGAAGGGAACACGCTT -3'
|
Posted On |
2014-01-15 |