Incidental Mutation 'R9471:Prdm1'
| ID |
715479 |
| 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 # |
R9471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44326174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 117
(G117S)
|
| 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: G150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: G150S
| 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: G117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: G117S
| 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: G132S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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 |
|---|
| Actl6b |
A |
G |
5: 137,565,319 (GRCm39) |
K368E |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,558,365 (GRCm39) |
T448A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,271,473 (GRCm39) |
P337S |
probably benign |
Het |
| Alg12 |
G |
A |
15: 88,690,621 (GRCm39) |
Q406* |
probably null |
Het |
| Anapc5 |
T |
C |
5: 122,944,308 (GRCm39) |
Y302C |
probably damaging |
Het |
| Apol7a |
A |
G |
15: 77,273,680 (GRCm39) |
S261P |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 80,023,524 (GRCm39) |
K1545N |
possibly damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,467,941 (GRCm39) |
D42E |
probably benign |
Het |
| Bcl6 |
T |
A |
16: 23,791,857 (GRCm39) |
N166Y |
probably benign |
Het |
| Btbd7 |
C |
T |
12: 102,760,145 (GRCm39) |
R601Q |
probably damaging |
Het |
| Casp1 |
A |
G |
9: 5,304,187 (GRCm39) |
E287G |
probably benign |
Het |
| Cd300c |
A |
T |
11: 114,847,216 (GRCm39) |
V193E |
probably damaging |
Het |
| Cd300lg |
T |
A |
11: 101,944,920 (GRCm39) |
S377T |
probably benign |
Het |
| Ceacam13 |
T |
A |
7: 17,753,012 (GRCm39) |
*264R |
probably null |
Het |
| Clasrp |
G |
A |
7: 19,319,172 (GRCm39) |
R498* |
probably null |
Het |
| Clec4n |
T |
A |
6: 123,221,505 (GRCm39) |
N146K |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,968,019 (GRCm39) |
V746E |
possibly damaging |
Het |
| Defa29 |
T |
C |
8: 21,816,901 (GRCm39) |
T31A |
possibly damaging |
Het |
| Egr4 |
A |
G |
6: 85,489,695 (GRCm39) |
S122P |
possibly damaging |
Het |
| Fam221a |
T |
G |
6: 49,349,520 (GRCm39) |
D28E |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,000,897 (GRCm39) |
T1161I |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,610,041 (GRCm39) |
E991G |
probably benign |
Het |
| Frat2 |
A |
G |
19: 41,836,113 (GRCm39) |
S80P |
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,301,845 (GRCm39) |
S985R |
unknown |
Het |
| H2-M3 |
T |
A |
17: 37,581,988 (GRCm39) |
I148N |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,235 (GRCm39) |
V137L |
probably damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,927 (GRCm39) |
M53L |
probably benign |
Het |
| Klhl24 |
C |
T |
16: 19,941,735 (GRCm39) |
T561I |
|
Het |
| Klhl26 |
C |
G |
8: 70,904,803 (GRCm39) |
G369A |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,913,980 (GRCm39) |
D750V |
|
Het |
| Mc5r |
A |
G |
18: 68,472,127 (GRCm39) |
D162G |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,234,559 (GRCm39) |
S1026R |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,436,195 (GRCm39) |
H1945R |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,002,114 (GRCm39) |
M113T |
probably benign |
Het |
| Obox2 |
G |
A |
7: 15,131,113 (GRCm39) |
G73D |
probably damaging |
Het |
| Or1af1 |
G |
A |
2: 37,110,400 (GRCm39) |
A300T |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,355 (GRCm39) |
C152* |
probably null |
Het |
| Pappa2 |
C |
T |
1: 158,642,029 (GRCm39) |
M1342I |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,202,039 (GRCm39) |
L44Q |
probably damaging |
Het |
| Pnpla1 |
A |
T |
17: 29,099,973 (GRCm39) |
Q280L |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,749 (GRCm39) |
T347S |
probably damaging |
Het |
| Prss36 |
A |
T |
7: 127,545,605 (GRCm39) |
F6I |
probably benign |
Het |
| Sat2 |
A |
G |
11: 69,513,725 (GRCm39) |
Y81C |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,677 (GRCm39) |
D67G |
probably benign |
Het |
| Shank2 |
G |
A |
7: 143,964,752 (GRCm39) |
V787M |
possibly damaging |
Het |
| Stoml1 |
A |
T |
9: 58,163,968 (GRCm39) |
I96F |
probably damaging |
Het |
| Tet2 |
C |
T |
3: 133,191,680 (GRCm39) |
G918D |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,869,444 (GRCm39) |
I8V |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r67 |
A |
C |
7: 84,799,723 (GRCm39) |
|
probably null |
Het |
| Wdr90 |
C |
A |
17: 26,080,015 (GRCm39) |
V107L |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,241,161 (GRCm39) |
D286G |
unknown |
Het |
| Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,508,343 (GRCm39) |
T386A |
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 |
|
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 |
|
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'- GAGCGTTTAACCAGTTCTAGGG -3'
(R):5'- GCTTACGGCTAACTGTGGAG -3'
Sequencing Primer
(F):5'- CTAGGGAACTTGCTCAGAATTCCAG -3'
(R):5'- CCCCTTTAGGTTATTGGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation