Incidental Mutation 'R3150:Prdm1'
ID |
271635 |
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 |
040602-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3150 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 44334488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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: W13R
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: W13R
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: L6*
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: L6*
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 null
Transcript: ENSMUST00000218369
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
possibly 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 |
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 |
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'- AGCGCTGGTTTCTACTGAGG -3'
(R):5'- TTGGTAAAGAAGTCTGCGGC -3'
Sequencing Primer
(F):5'- GCTGGTTTCTACTGAGGCTTCATTC -3'
(R):5'- AAGAGTAGTCAGTCGCTCGCTC -3'
|
Posted On |
2015-03-25 |