Incidental Mutation 'R9020:Prdm1'
| ID |
686675 |
| 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 |
068850-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44316036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 700
(L700P)
|
| 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: L733P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: L733P
| 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: L700P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: L700P
| 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: L715P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9367 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (58/60) |
| 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 |
|---|
| Acot11 |
A |
G |
4: 106,605,615 (GRCm39) |
S586P |
probably damaging |
Het |
| Adora3 |
T |
A |
3: 105,815,141 (GRCm39) |
I297N |
probably damaging |
Het |
| Adrb3 |
A |
T |
8: 27,717,947 (GRCm39) |
F167L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,999 (GRCm39) |
Y3955C |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,135 (GRCm39) |
D963G |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,951,057 (GRCm39) |
N11S |
possibly damaging |
Het |
| Casr |
A |
G |
16: 36,315,611 (GRCm39) |
S820P |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,281,915 (GRCm39) |
R447C |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,257,522 (GRCm39) |
V1019E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,959,552 (GRCm39) |
E866G |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,084,469 (GRCm39) |
D713E |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,434,676 (GRCm39) |
F240S |
possibly damaging |
Het |
| Cyp26b1 |
C |
T |
6: 84,552,056 (GRCm39) |
V361I |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,712,787 (GRCm39) |
I1597N |
possibly damaging |
Het |
| Dnajc25 |
C |
A |
4: 59,003,470 (GRCm39) |
Y80* |
probably null |
Het |
| Fbxo17 |
A |
T |
7: 28,436,782 (GRCm39) |
N246Y |
possibly damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,058 (GRCm39) |
T549A |
probably benign |
Het |
| Gm9758 |
A |
C |
5: 14,964,739 (GRCm39) |
N35K |
|
Het |
| Gtf2i |
T |
C |
5: 134,275,415 (GRCm39) |
T707A |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,573 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,432,526 (GRCm39) |
M290V |
probably benign |
Het |
| Irx1 |
A |
T |
13: 72,111,548 (GRCm39) |
Y20* |
probably null |
Het |
| Jade2 |
T |
A |
11: 51,708,454 (GRCm39) |
Q572L |
probably benign |
Het |
| Kcne4 |
T |
A |
1: 78,795,425 (GRCm39) |
H24Q |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,463 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,512,049 (GRCm39) |
V1068E |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,118 (GRCm39) |
V95D |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,961 (GRCm39) |
D32G |
probably damaging |
Het |
| Mavs |
A |
G |
2: 131,088,594 (GRCm39) |
E466G |
possibly damaging |
Het |
| Mipep |
T |
A |
14: 61,068,677 (GRCm39) |
L483* |
probably null |
Het |
| Muc16 |
G |
GAATGGCTTTCTT |
9: 18,550,015 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,549,992 (GRCm39) |
Q491K |
probably benign |
Het |
| Nle1 |
C |
G |
11: 82,797,275 (GRCm39) |
E146Q |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,150 (GRCm39) |
Y787H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,443 (GRCm39) |
S263G |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,837 (GRCm39) |
I505S |
probably damaging |
Het |
| Phtf1 |
C |
G |
3: 103,898,694 (GRCm39) |
S339* |
probably null |
Het |
| Pip5k1b |
T |
A |
19: 24,327,585 (GRCm39) |
I424F |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,211,497 (GRCm39) |
T681S |
possibly damaging |
Het |
| Prtg |
C |
T |
9: 72,799,277 (GRCm39) |
T769I |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,165,146 (GRCm39) |
V340A |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,023 (GRCm39) |
E548D |
probably benign |
Het |
| Rsph10b |
G |
A |
5: 143,922,283 (GRCm39) |
R823Q |
probably benign |
Het |
| Scgb1b3 |
A |
G |
7: 31,075,276 (GRCm39) |
E42G |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,488,858 (GRCm39) |
N486D |
probably damaging |
Het |
| Sdr9c7 |
T |
A |
10: 127,745,659 (GRCm39) |
I257N |
possibly damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,032,704 (GRCm39) |
I217F |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,723,480 (GRCm39) |
S467G |
probably benign |
Het |
| Sycp1 |
T |
C |
3: 102,783,653 (GRCm39) |
K607R |
probably benign |
Het |
| Tek |
C |
G |
4: 94,708,339 (GRCm39) |
P350R |
probably benign |
Het |
| Tet3 |
T |
C |
6: 83,381,418 (GRCm39) |
D250G |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,850,770 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Tsc2 |
G |
T |
17: 24,845,691 (GRCm39) |
T209K |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,752,366 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Uchl3 |
A |
T |
14: 101,903,986 (GRCm39) |
K74N |
probably damaging |
Het |
| Usp10 |
T |
G |
8: 120,667,904 (GRCm39) |
S68R |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,650,282 (GRCm39) |
I295V |
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 |
|
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 |
|
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'- TTCTGACCACAGCTAGAATCTCC -3'
(R):5'- CACACTTTAGGTCTGCCACAAG -3'
Sequencing Primer
(F):5'- GACCACAGCTAGAATCTCCTTCTC -3'
(R):5'- TAGGTCTGCCACAAGAGATTTAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation