Incidental Mutation 'IGL02669:Prdm1'
ID |
302848 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prdm1
|
Ensembl Gene |
ENSMUSG00000038151 |
Gene Name |
PR domain containing 1, with ZNF domain |
Synonyms |
Blimp-1, PRDI-BF1, Blimp1, b2b1765Clo |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02669
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44315880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 752
(M752K)
|
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: M785K
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: M785K
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: M752K
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: M752K
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: M767K
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
A |
16: 19,702,505 (GRCm39) |
|
noncoding transcript |
Het |
Acap1 |
G |
A |
11: 69,785,421 (GRCm39) |
|
probably benign |
Het |
Adam7 |
T |
C |
14: 68,745,343 (GRCm39) |
Y627C |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Aoc1l2 |
A |
G |
6: 48,908,407 (GRCm39) |
Y469C |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,238,093 (GRCm39) |
*515R |
probably null |
Het |
Baiap3 |
C |
T |
17: 25,463,322 (GRCm39) |
V958M |
probably damaging |
Het |
Brms1l |
A |
T |
12: 55,888,401 (GRCm39) |
D63V |
probably damaging |
Het |
Cnksr1 |
A |
T |
4: 133,957,774 (GRCm39) |
I435N |
probably damaging |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Cpne6 |
A |
G |
14: 55,751,283 (GRCm39) |
N201S |
probably benign |
Het |
Dnajc12 |
A |
G |
10: 63,233,071 (GRCm39) |
S71G |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,973,710 (GRCm39) |
|
probably null |
Het |
E2f3 |
A |
G |
13: 30,100,974 (GRCm39) |
S239P |
probably benign |
Het |
Eif3e |
T |
A |
15: 43,146,088 (GRCm39) |
M1L |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,823,987 (GRCm39) |
T867A |
probably benign |
Het |
Erlin1 |
G |
T |
19: 44,027,658 (GRCm39) |
A260E |
probably damaging |
Het |
Esrp1 |
A |
G |
4: 11,386,324 (GRCm39) |
V38A |
possibly damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,986 (GRCm39) |
R128G |
probably damaging |
Het |
Gnb3 |
A |
G |
6: 124,814,688 (GRCm39) |
L70P |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,802,806 (GRCm39) |
V1139A |
probably damaging |
Het |
Gpt2 |
G |
T |
8: 86,249,908 (GRCm39) |
M463I |
probably benign |
Het |
Gtpbp3 |
C |
A |
8: 71,943,546 (GRCm39) |
A201D |
probably damaging |
Het |
Jaml |
A |
C |
9: 45,015,489 (GRCm39) |
K331T |
possibly damaging |
Het |
Kntc1 |
G |
A |
5: 123,893,727 (GRCm39) |
|
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,693,446 (GRCm39) |
K298R |
probably damaging |
Het |
Mfge8 |
T |
C |
7: 78,795,429 (GRCm39) |
D46G |
probably benign |
Het |
Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
Nup88 |
A |
G |
11: 70,847,110 (GRCm39) |
M300T |
probably damaging |
Het |
Or4c118 |
T |
A |
2: 88,974,564 (GRCm39) |
K268* |
probably null |
Het |
Or4k48 |
A |
T |
2: 111,476,236 (GRCm39) |
Y35* |
probably null |
Het |
Or52b4 |
A |
G |
7: 102,184,868 (GRCm39) |
M305V |
probably benign |
Het |
Prl3b1 |
A |
T |
13: 27,429,795 (GRCm39) |
M78L |
probably benign |
Het |
Ralgps2 |
T |
C |
1: 156,660,268 (GRCm39) |
E268G |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,240,525 (GRCm39) |
D279G |
possibly damaging |
Het |
Tanc1 |
T |
A |
2: 59,630,330 (GRCm39) |
I770K |
probably damaging |
Het |
Tbl2 |
G |
A |
5: 135,181,852 (GRCm39) |
R64H |
probably damaging |
Het |
Tg |
T |
A |
15: 66,620,575 (GRCm39) |
|
probably benign |
Het |
Tmprss13 |
A |
T |
9: 45,243,824 (GRCm39) |
I187F |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,147,856 (GRCm39) |
L263P |
probably damaging |
Het |
Vmn2r109 |
T |
G |
17: 20,774,518 (GRCm39) |
D279A |
possibly damaging |
Het |
Vps33b |
A |
G |
7: 79,925,786 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,005,033 (GRCm39) |
S338G |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,432 (GRCm39) |
Q1121R |
probably benign |
Het |
Zic1 |
G |
T |
9: 91,246,486 (GRCm39) |
H195Q |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |