Incidental Mutation 'R8958:Prdm1'
| ID |
682174 |
| 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 |
068794-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 44316729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 623
(K623Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
| AlphaFold |
Q60636 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039174
AA Change: K641Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: K641Q
| 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: K608Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: K608Q
| 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: K623Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
T |
12: 21,399,934 (GRCm39) |
N157K |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,848 (GRCm39) |
V412A |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,865,190 (GRCm39) |
V11I |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,019 (GRCm39) |
D643G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,221,376 (GRCm39) |
Q597R |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,877 (GRCm39) |
V910A |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,851,283 (GRCm39) |
D1167G |
probably benign |
Het |
| Ccdc187 |
A |
C |
2: 26,165,577 (GRCm39) |
S860A |
probably benign |
Het |
| Ccdc28a |
T |
C |
10: 18,089,926 (GRCm39) |
I113M |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,704,127 (GRCm39) |
N699S |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,385,350 (GRCm39) |
I2310K |
possibly damaging |
Het |
| Ch25h |
A |
T |
19: 34,452,414 (GRCm39) |
I38N |
probably benign |
Het |
| Chrdl2 |
C |
A |
7: 99,670,129 (GRCm39) |
P84Q |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,586,403 (GRCm39) |
Y1673N |
possibly damaging |
Het |
| Cr1l |
C |
G |
1: 194,812,243 (GRCm39) |
G27R |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 4,031,172 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,586,805 (GRCm39) |
E929K |
probably benign |
Het |
| E2f7 |
C |
A |
10: 110,601,615 (GRCm39) |
P324Q |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,411,194 (GRCm39) |
D215G |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 102,072,614 (GRCm39) |
I55T |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,107,810 (GRCm39) |
L188Q |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,944 (GRCm39) |
S226P |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,275,210 (GRCm39) |
F337L |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,899,116 (GRCm39) |
C716* |
probably null |
Het |
| Gp1ba |
C |
G |
11: 70,531,730 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,472,783 (GRCm39) |
S36L |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,299,520 (GRCm39) |
I167F |
probably damaging |
Het |
| H3c6 |
T |
C |
13: 23,746,421 (GRCm39) |
H40R |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,934 (GRCm39) |
C472R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ino80 |
C |
T |
2: 119,213,862 (GRCm39) |
R1236H |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,573,995 (GRCm39) |
I115N |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,573 (GRCm39) |
S950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,835,592 (GRCm39) |
T1254A |
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,698,361 (GRCm39) |
K339* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Myzap |
G |
T |
9: 71,457,485 (GRCm39) |
D303E |
possibly damaging |
Het |
| Naa11 |
T |
C |
5: 97,540,084 (GRCm39) |
N25D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,354,117 (GRCm39) |
K1149* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,964,158 (GRCm39) |
V3083M |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,091 (GRCm39) |
T155A |
probably benign |
Het |
| Or4k48 |
T |
C |
2: 111,476,070 (GRCm39) |
T91A |
possibly damaging |
Het |
| Parn |
T |
A |
16: 13,466,322 (GRCm39) |
E241D |
possibly damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,517 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
T |
5: 14,725,369 (GRCm39) |
E1409V |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,056 (GRCm39) |
Y3843C |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,634 (GRCm39) |
M563K |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,698,973 (GRCm39) |
V1152A |
probably benign |
Het |
| Ptx3 |
G |
A |
3: 66,128,391 (GRCm39) |
A151T |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,940 (GRCm39) |
S282G |
possibly damaging |
Het |
| Ros1 |
G |
T |
10: 51,972,190 (GRCm39) |
N1641K |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,181,768 (GRCm39) |
K4189R |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,246,091 (GRCm39) |
K611E |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,376 (GRCm39) |
Q151R |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,003,667 (GRCm39) |
I254V |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,143,760 (GRCm39) |
D556G |
probably damaging |
Het |
| Wdr97 |
A |
T |
15: 76,245,694 (GRCm39) |
E1310D |
|
Het |
| Zfp513 |
C |
A |
5: 31,356,825 (GRCm39) |
R487L |
probably damaging |
Het |
| Zmpste24 |
C |
A |
4: 120,944,508 (GRCm39) |
E97* |
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 |
|
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 |
|
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'- AGTCACAGAGTACCCAGGAG -3'
(R):5'- ACAGGGTTTATCTCAGTGTCTTTC -3'
Sequencing Primer
(F):5'- CACAGAGTACCCAGGAGCTGTG -3'
(R):5'- CCTAAGAGGCTTGCATCTGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation