Incidental Mutation 'R4490:Prdm1'
ID |
330687 |
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 |
041746-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4490 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 44322903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 197
(Y197*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
AlphaFold |
Q60636 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039174
AA Change: Y215*
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: Y215*
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: Y182*
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: Y182*
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
AA Change: Y197*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (45/45) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
C |
1: 156,461,349 (GRCm39) |
V417A |
probably damaging |
Het |
Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
Atp6v0a2 |
T |
C |
5: 124,784,674 (GRCm39) |
V319A |
probably damaging |
Het |
Cage1 |
A |
G |
13: 38,207,393 (GRCm39) |
S257P |
possibly damaging |
Het |
Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
Gbp2 |
A |
G |
3: 142,329,525 (GRCm39) |
N24S |
probably benign |
Het |
Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
Kpnb1 |
A |
G |
11: 97,062,424 (GRCm39) |
V447A |
probably benign |
Het |
Nckap5l |
G |
A |
15: 99,324,011 (GRCm39) |
P831S |
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
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 |
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 |
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'- AGGGGCAGAACTGACATTAC -3'
(R):5'- AGCCATTCAGGGAAGCTTC -3'
Sequencing Primer
(F):5'- ATAAGGGTAGTGGAGCCT -3'
(R):5'- GAAGCTTCCCGGTCGCTTTG -3'
|
Posted On |
2015-07-21 |