Incidental Mutation 'IGL02064:Prdm1'
| ID |
185554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44317338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 495
(F495S)
|
| 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: F528S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: F528S
| 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: F495S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: F495S
| 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: F510S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,784,463 (GRCm39) |
L312P |
probably damaging |
Het |
| Acap2 |
A |
C |
16: 30,946,146 (GRCm39) |
W284G |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,506,986 (GRCm39) |
L93P |
possibly damaging |
Het |
| Agbl2 |
G |
T |
2: 90,614,368 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
T |
18: 38,124,754 (GRCm39) |
G242D |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,657,401 (GRCm39) |
V1804I |
possibly damaging |
Het |
| Bnc1 |
C |
A |
7: 81,623,251 (GRCm39) |
V659L |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Car9 |
A |
G |
4: 43,507,363 (GRCm39) |
E103G |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,758,176 (GRCm39) |
T195A |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 119,092,424 (GRCm39) |
I8T |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,599,654 (GRCm39) |
S833F |
probably benign |
Het |
| Cryba2 |
T |
A |
1: 74,929,720 (GRCm39) |
D139V |
possibly damaging |
Het |
| Emp1 |
T |
A |
6: 135,354,210 (GRCm39) |
M1K |
probably null |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Exosc4 |
C |
A |
15: 76,213,836 (GRCm39) |
A220E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,282,112 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
C |
T |
6: 64,040,919 (GRCm39) |
T287I |
probably benign |
Het |
| Grifin |
C |
T |
5: 140,550,494 (GRCm39) |
A7T |
probably damaging |
Het |
| Gzmg |
T |
C |
14: 56,394,798 (GRCm39) |
K157E |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,819 (GRCm39) |
I340N |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,687,600 (GRCm39) |
H98L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,471,088 (GRCm39) |
H58R |
possibly damaging |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,468 (GRCm39) |
G71C |
unknown |
Het |
| Krtap7-1 |
A |
T |
16: 89,305,011 (GRCm39) |
M47K |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,373,002 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
A |
G |
15: 75,093,505 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,286,128 (GRCm39) |
N6S |
possibly damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,298 (GRCm39) |
C112R |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,362,808 (GRCm39) |
F271L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,241 (GRCm39) |
F89Y |
possibly damaging |
Het |
| Or5p58 |
T |
G |
7: 107,694,454 (GRCm39) |
T108P |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,874 (GRCm39) |
I122N |
probably damaging |
Het |
| Pcdh19 |
A |
G |
X: 132,586,719 (GRCm39) |
M432T |
probably benign |
Het |
| Prkar2a |
T |
C |
9: 108,610,403 (GRCm39) |
Y211H |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,754,862 (GRCm39) |
G1143V |
probably damaging |
Het |
| Rbbp7 |
A |
G |
X: 161,552,783 (GRCm39) |
|
probably null |
Het |
| Scel |
C |
A |
14: 103,770,762 (GRCm39) |
H65Q |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,137,463 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
C |
A |
5: 129,637,860 (GRCm39) |
T839N |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,699,911 (GRCm39) |
I636V |
possibly damaging |
Het |
| Slc15a1 |
G |
T |
14: 121,699,886 (GRCm39) |
P644H |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,935,883 (GRCm39) |
I38N |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,816,913 (GRCm39) |
Q218* |
probably null |
Het |
| Tbc1d14 |
A |
T |
5: 36,665,019 (GRCm39) |
L237* |
probably null |
Het |
| Trpm7 |
C |
T |
2: 126,639,863 (GRCm39) |
E1578K |
probably damaging |
Het |
| Ttc17 |
G |
A |
2: 94,161,012 (GRCm39) |
T896I |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,513,163 (GRCm39) |
D339G |
possibly damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,533 (GRCm39) |
Y683F |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,563,411 (GRCm39) |
L466Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation