Incidental Mutation 'R8809:Prdm1'
| ID |
672288 |
| 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 |
068645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8809 (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 T
at 44315749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 796
(S796T)
|
| 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: S829T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: S829T
| 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: S796T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: S796T
| 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: S811T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,550,841 (GRCm39) |
V318I |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,415,422 (GRCm39) |
|
probably benign |
Het |
| Arcn1 |
T |
C |
9: 44,655,259 (GRCm39) |
T501A |
possibly damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,521,690 (GRCm39) |
F166I |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,822,524 (GRCm39) |
S467P |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,322 (GRCm39) |
V492A |
unknown |
Het |
| Ces1b |
C |
A |
8: 93,786,948 (GRCm39) |
G477V |
probably damaging |
Het |
| Ces1b |
C |
T |
8: 93,786,949 (GRCm39) |
G477R |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,382 (GRCm39) |
K1724R |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,553,270 (GRCm39) |
Q182L |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,664,457 (GRCm39) |
T486A |
probably benign |
Het |
| Col25a1 |
A |
T |
3: 130,354,466 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,295,916 (GRCm39) |
Y101H |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,879,428 (GRCm39) |
T587A |
probably damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,835,374 (GRCm39) |
N301I |
possibly damaging |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,995 (GRCm39) |
N417Y |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,009,546 (GRCm39) |
E3800D |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,193,234 (GRCm39) |
S573P |
probably damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,127,489 (GRCm39) |
T906K |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,978,200 (GRCm39) |
H183R |
possibly damaging |
Het |
| Fgl1 |
T |
A |
8: 41,650,368 (GRCm39) |
K194* |
probably null |
Het |
| Fxr1 |
G |
A |
3: 34,108,430 (GRCm39) |
V314I |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,239,443 (GRCm39) |
Q3227R |
unknown |
Het |
| Ier5 |
G |
A |
1: 154,974,716 (GRCm39) |
A154V |
probably benign |
Het |
| Igkc |
T |
G |
6: 70,703,502 (GRCm39) |
L28V |
|
Het |
| Kcnh1 |
G |
A |
1: 191,903,722 (GRCm39) |
G54D |
probably damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,305,297 (GRCm39) |
|
probably null |
Het |
| Kifbp |
C |
T |
10: 62,395,491 (GRCm39) |
D384N |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,198 (GRCm39) |
N234I |
possibly damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,454 (GRCm39) |
I125T |
unknown |
Het |
| Lrig2 |
T |
C |
3: 104,368,993 (GRCm39) |
T897A |
probably benign |
Het |
| Lyve1 |
G |
T |
7: 110,452,999 (GRCm39) |
T199K |
probably damaging |
Het |
| Myorg |
T |
C |
4: 41,498,812 (GRCm39) |
T273A |
probably benign |
Het |
| Napa |
A |
G |
7: 15,846,551 (GRCm39) |
D113G |
possibly damaging |
Het |
| Neurog1 |
GGTG |
GGTGTG |
13: 56,399,098 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,437,964 (GRCm39) |
H91Q |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,662,256 (GRCm39) |
M265T |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,446 (GRCm39) |
N174Y |
probably benign |
Het |
| Or5k16 |
T |
A |
16: 58,736,248 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or7g16 |
A |
G |
9: 18,726,919 (GRCm39) |
S224P |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,220 (GRCm39) |
Y455* |
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,923,339 (GRCm39) |
I95N |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
| Pkd1l2 |
A |
G |
8: 117,726,660 (GRCm39) |
L2282P |
probably damaging |
Het |
| Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,503,000 (GRCm39) |
F424L |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,992,852 (GRCm39) |
L190P |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,700,864 (GRCm39) |
Y321H |
probably damaging |
Het |
| Rlbp1 |
A |
G |
7: 79,025,704 (GRCm39) |
Y246H |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,655 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,039,575 (GRCm39) |
C244* |
probably null |
Het |
| Snapc1 |
T |
C |
12: 74,021,812 (GRCm39) |
S304P |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,104,019 (GRCm39) |
L191P |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,738 (GRCm39) |
E202D |
probably benign |
Het |
| Ss18 |
A |
G |
18: 14,760,344 (GRCm39) |
*419R |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,276,421 (GRCm39) |
E1824G |
possibly damaging |
Het |
| Tacc3 |
T |
A |
5: 33,824,029 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,870,829 (GRCm39) |
L353Q |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,345 (GRCm39) |
I363V |
possibly damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,489,775 (GRCm39) |
C145R |
probably damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,903,352 (GRCm39) |
I142K |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,874 (GRCm39) |
I610N |
probably benign |
Het |
| Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
| Zbtb7c |
T |
C |
18: 76,270,190 (GRCm39) |
Y93H |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,107,238 (GRCm39) |
N443S |
probably 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 |
|
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 |
|
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'- TTAATTCCAGAGAGGTGCAGG -3'
(R):5'- ACCGTCTTGAGGACATGGAG -3'
Sequencing Primer
(F):5'- TTGCAGATCTGGAGTCATGTACAAG -3'
(R):5'- CTTGAGGACATGGAGGACAGTGTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation