Incidental Mutation 'IGL02944:Prdm1'
| ID |
364651 |
| 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 # |
IGL02944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44317807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 354
(S354G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
| AlphaFold |
Q60636 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039174
AA Change: S372G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: S372G
| 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 benign
Transcript: ENSMUST00000105490
AA Change: S339G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: S339G
| 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 benign
Transcript: ENSMUST00000218369
AA Change: S354G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
| Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
| Cav2 |
T |
C |
6: 17,281,456 (GRCm39) |
Y33H |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
| Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
| Gmds |
T |
A |
13: 32,522,435 (GRCm39) |
Y11F |
probably benign |
Het |
| Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
| Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
| Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,969,688 (GRCm39) |
D320N |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
| Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
| Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
| Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
| Slc25a54 |
A |
T |
3: 108,987,931 (GRCm39) |
Y24F |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,482,865 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
G |
T |
7: 104,084,984 (GRCm39) |
N75K |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
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 |
|
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 |
2015-12-18 |
Incidental Mutation