Incidental Mutation 'IGL01331:Prdm1'
| ID |
74516 |
| 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 # |
IGL01331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44317970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 299
(K299N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
| AlphaFold |
Q60636 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039174
AA Change: K317N
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: K317N
| 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: K284N
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: K284N
| 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 |
possibly damaging
Transcript: ENSMUST00000218369
AA Change: K299N
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clca3a1 |
G |
A |
3: 144,453,273 (GRCm39) |
T517M |
probably damaging |
Het |
| Clec4g |
T |
C |
8: 3,767,190 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,233,454 (GRCm39) |
E545K |
possibly damaging |
Het |
| Cntn6 |
A |
T |
6: 104,751,484 (GRCm39) |
D380V |
probably damaging |
Het |
| Col9a2 |
C |
T |
4: 120,902,389 (GRCm39) |
P209S |
possibly damaging |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,140 (GRCm39) |
V183A |
probably damaging |
Het |
| Dpt |
T |
C |
1: 164,624,379 (GRCm39) |
Y27H |
unknown |
Het |
| Dusp16 |
T |
C |
6: 134,695,067 (GRCm39) |
Q588R |
possibly damaging |
Het |
| Emg1 |
A |
G |
6: 124,682,033 (GRCm39) |
S164P |
probably benign |
Het |
| Foxk1 |
G |
A |
5: 142,439,344 (GRCm39) |
R428Q |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,607,036 (GRCm39) |
M667K |
probably benign |
Het |
| Gpr55 |
T |
A |
1: 85,868,915 (GRCm39) |
|
probably benign |
Het |
| Gtpbp8 |
A |
G |
16: 44,560,494 (GRCm39) |
I162T |
probably benign |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,992 (GRCm39) |
V21I |
possibly damaging |
Het |
| Ipo11 |
T |
A |
13: 106,932,254 (GRCm39) |
Y938F |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,863,869 (GRCm39) |
V365L |
probably benign |
Het |
| Mboat1 |
C |
A |
13: 30,403,684 (GRCm39) |
|
probably benign |
Het |
| Med12 |
A |
G |
X: 100,324,360 (GRCm39) |
E649G |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,495 (GRCm39) |
V150A |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,586,782 (GRCm39) |
Y65C |
possibly damaging |
Het |
| Or8k22 |
A |
C |
2: 86,163,048 (GRCm39) |
Y217* |
probably null |
Het |
| Ribc1 |
T |
C |
X: 150,788,102 (GRCm39) |
T291A |
probably benign |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,549 (GRCm39) |
N484K |
possibly damaging |
Het |
| Serpina3k |
C |
A |
12: 104,309,369 (GRCm39) |
A271D |
probably benign |
Het |
| Spata18 |
G |
T |
5: 73,827,024 (GRCm39) |
R321L |
probably damaging |
Het |
| Styxl2 |
C |
A |
1: 165,935,749 (GRCm39) |
V150L |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,976,027 (GRCm39) |
|
probably benign |
Het |
| Syt17 |
T |
A |
7: 118,007,389 (GRCm39) |
I302F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,985,538 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,276 (GRCm39) |
Y323C |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,901,112 (GRCm39) |
D1452G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,620,022 (GRCm39) |
I7555T |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,238,801 (GRCm39) |
W131R |
probably damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,820,870 (GRCm39) |
C21* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,691,296 (GRCm39) |
C1158* |
probably null |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation