Incidental Mutation 'R9554:Prdm1'
ID |
720668 |
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 # |
R9554 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44317242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 527
(V527A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
AlphaFold |
Q60636 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039174
AA Change: V560A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: V560A
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: V527A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: V527A
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 benign
Transcript: ENSMUST00000218369
AA Change: V542A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,029,107 (GRCm39) |
E817G |
probably benign |
Het |
Abhd12b |
A |
G |
12: 70,215,988 (GRCm39) |
T182A |
probably benign |
Het |
Allc |
A |
T |
12: 28,607,414 (GRCm39) |
C279* |
probably null |
Het |
Ang |
A |
G |
14: 51,338,976 (GRCm39) |
D39G |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,360,197 (GRCm39) |
T958M |
probably damaging |
Het |
Ccn4 |
G |
A |
15: 66,784,900 (GRCm39) |
R191K |
probably benign |
Het |
Ccnyl1 |
A |
G |
1: 64,753,750 (GRCm39) |
Y187C |
probably damaging |
Het |
Cfhr4 |
A |
T |
1: 139,668,169 (GRCm39) |
S321R |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,251,015 (GRCm39) |
W616R |
probably damaging |
Het |
Cyp17a1 |
C |
T |
19: 46,657,165 (GRCm39) |
R361H |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcp1a |
A |
G |
14: 30,201,691 (GRCm39) |
Q38R |
probably benign |
Het |
Ddias |
T |
C |
7: 92,507,560 (GRCm39) |
N785S |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,122,076 (GRCm39) |
N1133S |
probably benign |
Het |
Dhx8 |
T |
A |
11: 101,645,614 (GRCm39) |
Y877* |
probably null |
Het |
Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
Fam120b |
G |
A |
17: 15,626,020 (GRCm39) |
A458T |
possibly damaging |
Het |
Fgd4 |
G |
A |
16: 16,308,353 (GRCm39) |
T9I |
probably benign |
Het |
Fhip1b |
C |
A |
7: 105,038,915 (GRCm39) |
R108L |
probably damaging |
Het |
Gfpt1 |
C |
T |
6: 87,062,323 (GRCm39) |
R561W |
probably damaging |
Het |
Gm5773 |
A |
G |
3: 93,680,340 (GRCm39) |
D4G |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,882,470 (GRCm39) |
T108S |
probably damaging |
Het |
Hivep1 |
G |
A |
13: 42,308,251 (GRCm39) |
D164N |
possibly damaging |
Het |
Kif15 |
G |
T |
9: 122,828,585 (GRCm39) |
L902F |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,261,497 (GRCm39) |
R4481S |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,332,310 (GRCm39) |
V1209A |
probably damaging |
Het |
Mkrn1 |
C |
T |
6: 39,376,838 (GRCm39) |
R377H |
probably benign |
Het |
Ms4a4a |
G |
A |
19: 11,367,708 (GRCm39) |
M191I |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,018,580 (GRCm39) |
N1922I |
|
Het |
Nbeal1 |
C |
T |
1: 60,290,287 (GRCm39) |
Q998* |
probably null |
Het |
Neil3 |
C |
A |
8: 54,061,770 (GRCm39) |
G204C |
probably damaging |
Het |
Nsmce1 |
T |
C |
7: 125,066,994 (GRCm39) |
E262G |
possibly damaging |
Het |
Oc90 |
G |
A |
15: 65,761,437 (GRCm39) |
P194S |
probably benign |
Het |
Oplah |
A |
G |
15: 76,193,787 (GRCm39) |
S57P |
probably benign |
Het |
Or10u4 |
A |
T |
10: 129,802,181 (GRCm39) |
F123L |
probably benign |
Het |
Or1x6 |
T |
A |
11: 50,939,223 (GRCm39) |
Y96* |
probably null |
Het |
Or2aj4 |
T |
A |
16: 19,384,722 (GRCm39) |
I304F |
possibly damaging |
Het |
Or4a73 |
C |
A |
2: 89,420,710 (GRCm39) |
V250F |
probably damaging |
Het |
Or4d5 |
T |
A |
9: 40,012,160 (GRCm39) |
M209L |
probably benign |
Het |
Or51g1 |
A |
T |
7: 102,633,774 (GRCm39) |
I199N |
probably damaging |
Het |
Or5p70 |
A |
G |
7: 107,994,365 (GRCm39) |
T13A |
probably benign |
Het |
Or8g28 |
A |
C |
9: 39,169,756 (GRCm39) |
F71V |
possibly damaging |
Het |
Pdzd8 |
A |
T |
19: 59,333,574 (GRCm39) |
L149Q |
probably damaging |
Het |
Pid1 |
A |
G |
1: 84,137,032 (GRCm39) |
V33A |
probably benign |
Het |
Polr3gl |
A |
G |
3: 96,489,037 (GRCm39) |
V60A |
possibly damaging |
Het |
Sbf2 |
T |
C |
7: 110,040,671 (GRCm39) |
I385M |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 78,826,599 (GRCm39) |
S1338N |
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,253,006 (GRCm39) |
T389A |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
Slx4 |
C |
A |
16: 3,805,820 (GRCm39) |
M577I |
probably benign |
Het |
Srcap |
T |
C |
7: 127,151,577 (GRCm39) |
S2092P |
probably damaging |
Het |
Traf6 |
T |
A |
2: 101,518,953 (GRCm39) |
H147Q |
probably benign |
Het |
Ttn |
T |
A |
2: 76,547,693 (GRCm39) |
E32159V |
possibly damaging |
Het |
Ubn1 |
T |
C |
16: 4,888,492 (GRCm39) |
S154P |
unknown |
Het |
Uchl1 |
T |
A |
5: 66,833,649 (GRCm39) |
M6K |
probably damaging |
Het |
Vmn1r193 |
A |
T |
13: 22,403,989 (GRCm39) |
M1K |
probably null |
Het |
Zfp429 |
T |
A |
13: 67,538,531 (GRCm39) |
K304N |
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,402,464 (GRCm39) |
S307T |
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 |
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 |
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'- AGAGCTGACCGAACGTCTTG -3'
(R):5'- GTAACCTCCTTAGTGGCAGC -3'
Sequencing Primer
(F):5'- ACGTCTTGGCACAGACATTG -3'
(R):5'- GAGTTCCCTGCCTACCGATG -3'
|
Posted On |
2022-08-09 |