Incidental Mutation 'R0284:Prdm1'
| ID |
24619 |
| 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 |
038505-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44332622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 96
(E96G)
|
| 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: E129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: E129G
| 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: E96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: E96G
| 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 damaging
Transcript: ENSMUST00000218369
AA Change: E111G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6048 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.4%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
A |
G |
7: 30,013,413 (GRCm39) |
T161A |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,211,725 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,339,149 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,276,848 (GRCm39) |
|
probably benign |
Het |
| Bmp2k |
A |
T |
5: 97,216,314 (GRCm39) |
H604L |
unknown |
Het |
| Cacna1a |
A |
T |
8: 85,338,914 (GRCm39) |
M1705L |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,794,062 (GRCm39) |
D1526E |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,975 (GRCm39) |
R107G |
possibly damaging |
Het |
| Cklf |
T |
C |
8: 104,988,207 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
A |
G |
9: 54,672,210 (GRCm39) |
K9E |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,793,423 (GRCm39) |
D386G |
probably damaging |
Het |
| Cyp3a41b |
G |
A |
5: 145,515,014 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,464,684 (GRCm39) |
V393E |
probably damaging |
Het |
| Ednrb |
C |
T |
14: 104,057,449 (GRCm39) |
G371D |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 76,994,353 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,061,608 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,183,362 (GRCm39) |
|
probably benign |
Het |
| Foxo6 |
T |
C |
4: 120,126,199 (GRCm39) |
S199G |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,063,823 (GRCm39) |
|
probably null |
Het |
| Gys1 |
A |
T |
7: 45,086,143 (GRCm39) |
|
probably benign |
Het |
| Igfbp1 |
T |
C |
11: 7,148,103 (GRCm39) |
S49P |
probably damaging |
Het |
| Incenp |
A |
T |
19: 9,871,357 (GRCm39) |
S91T |
unknown |
Het |
| Itpkc |
G |
A |
7: 26,913,968 (GRCm39) |
R498* |
probably null |
Het |
| Kat6a |
A |
G |
8: 23,429,819 (GRCm39) |
T1725A |
unknown |
Het |
| Kiz |
T |
A |
2: 146,705,730 (GRCm39) |
C97S |
probably benign |
Het |
| Kri1 |
A |
G |
9: 21,187,848 (GRCm39) |
|
probably benign |
Het |
| Lipn |
A |
G |
19: 34,058,106 (GRCm39) |
S276G |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,967 (GRCm39) |
T881A |
probably damaging |
Het |
| Man1a2 |
T |
C |
3: 100,592,102 (GRCm39) |
H26R |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,876,359 (GRCm39) |
F173I |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,855 (GRCm39) |
Q341R |
probably damaging |
Het |
| Mllt6 |
G |
T |
11: 97,569,431 (GRCm39) |
A928S |
probably benign |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nipsnap3a |
C |
T |
4: 52,997,178 (GRCm39) |
T150I |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,797,427 (GRCm39) |
E97G |
probably damaging |
Het |
| Or11j4 |
G |
A |
14: 50,630,452 (GRCm39) |
V80M |
probably damaging |
Het |
| Or4f54 |
T |
C |
2: 111,122,931 (GRCm39) |
V106A |
probably benign |
Het |
| Or7g18 |
A |
T |
9: 18,786,848 (GRCm39) |
Y72F |
probably benign |
Het |
| Or8c11 |
G |
A |
9: 38,289,880 (GRCm39) |
M234I |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,855,207 (GRCm39) |
F220L |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,491,572 (GRCm39) |
L552S |
probably damaging |
Het |
| Plekhf2 |
T |
C |
4: 10,990,595 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,040,659 (GRCm39) |
E608D |
probably damaging |
Het |
| Prpf40b |
A |
T |
15: 99,214,274 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
C |
2: 101,460,464 (GRCm39) |
V258A |
probably damaging |
Het |
| S100a5 |
A |
G |
3: 90,518,881 (GRCm39) |
I68V |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,530,648 (GRCm39) |
|
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,226,740 (GRCm39) |
V492A |
probably damaging |
Het |
| Spag6l |
T |
A |
16: 16,598,630 (GRCm39) |
Q287L |
probably damaging |
Het |
| Spmip6 |
T |
G |
4: 41,507,538 (GRCm39) |
E150A |
probably damaging |
Het |
| Synpo2 |
C |
T |
3: 122,873,383 (GRCm39) |
W211* |
probably null |
Het |
| Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
A |
G |
17: 47,630,471 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
C |
2: 76,677,048 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,871,372 (GRCm39) |
M1900K |
probably benign |
Het |
| Vps41 |
A |
T |
13: 19,037,610 (GRCm39) |
D691V |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,829,083 (GRCm39) |
Y974C |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 120,997,214 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTGAGCCCTTTACCATGCTG -3'
(R):5'- TGGACATGGAGGACGCTGATATGAC -3'
Sequencing Primer
(F):5'- TTACCATGCTGCCCACCAG -3'
(R):5'- ACTTTGTGGACAGAGGCCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation