Incidental Mutation 'R9009:Prdm1'
| ID |
685513 |
| 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 |
068839-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
44313173-44404497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44322997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 151
(N151S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039174]
[ENSMUST00000105490]
[ENSMUST00000218369]
|
| AlphaFold |
Q60636 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039174
AA Change: N184S
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: N184S
| 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: N151S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: N151S
| 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: N166S
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (58/62) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
T |
A |
8: 120,878,279 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
C |
T |
1: 179,581,171 (GRCm39) |
S1677N |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,728,025 (GRCm39) |
|
probably benign |
Het |
| Arid3c |
A |
T |
4: 41,729,925 (GRCm39) |
I90N |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,480,205 (GRCm39) |
D301E |
unknown |
Het |
| Asb1 |
T |
G |
1: 91,480,206 (GRCm39) |
*302G |
probably null |
Het |
| Birc2 |
A |
T |
9: 7,833,937 (GRCm39) |
F181L |
probably benign |
Het |
| Bnip1 |
T |
A |
17: 27,001,590 (GRCm39) |
|
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,116,135 (GRCm39) |
D575G |
possibly damaging |
Het |
| Cdca7 |
T |
A |
2: 72,314,273 (GRCm39) |
H248Q |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,143,192 (GRCm39) |
D567G |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,140,402 (GRCm39) |
I609V |
probably benign |
Het |
| Cnmd |
T |
A |
14: 79,894,085 (GRCm39) |
T101S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,954,404 (GRCm39) |
T312A |
probably benign |
Het |
| Cript |
C |
A |
17: 87,338,475 (GRCm39) |
T41N |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,261 (GRCm39) |
I264V |
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,467,802 (GRCm39) |
T262I |
probably null |
Het |
| D430041D05Rik |
T |
A |
2: 104,240,521 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,564,712 (GRCm39) |
P5S |
probably benign |
Het |
| Det1 |
T |
C |
7: 78,492,984 (GRCm39) |
N340S |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,262,232 (GRCm39) |
N2032D |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,840,116 (GRCm39) |
T164S |
probably benign |
Het |
| Emcn |
T |
C |
3: 137,124,775 (GRCm39) |
V196A |
possibly damaging |
Het |
| Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
| Gimap3 |
C |
A |
6: 48,742,094 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Gm43302 |
C |
T |
5: 105,427,974 (GRCm39) |
D196N |
probably benign |
Het |
| Gpc6 |
C |
A |
14: 117,424,217 (GRCm39) |
H102N |
possibly damaging |
Het |
| Gpr158 |
A |
T |
2: 21,581,760 (GRCm39) |
D413V |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,555,382 (GRCm39) |
R767G |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,800,634 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
A |
C |
1: 163,696,291 (GRCm39) |
D640A |
probably damaging |
Het |
| Lmbrd2 |
A |
T |
15: 9,157,311 (GRCm39) |
Q183L |
possibly damaging |
Het |
| Malt1 |
A |
G |
18: 65,577,911 (GRCm39) |
I135V |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,057,109 (GRCm39) |
V528A |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,167,163 (GRCm39) |
S363P |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,073,323 (GRCm39) |
Y44C |
probably damaging |
Het |
| Mstn |
C |
T |
1: 53,103,131 (GRCm39) |
Q156* |
probably null |
Het |
| Mtmr7 |
T |
C |
8: 41,008,904 (GRCm39) |
D469G |
possibly damaging |
Het |
| Muc6 |
A |
G |
7: 141,217,018 (GRCm39) |
S2552P |
possibly damaging |
Het |
| Myo1f |
C |
A |
17: 33,823,662 (GRCm39) |
N1063K |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,642 (GRCm39) |
I27N |
probably benign |
Het |
| Or5af1 |
A |
T |
11: 58,722,280 (GRCm39) |
Y100F |
probably benign |
Het |
| Or6z5 |
G |
A |
7: 6,477,399 (GRCm39) |
V97M |
probably benign |
Het |
| Orai2 |
A |
G |
5: 136,179,430 (GRCm39) |
V201A |
possibly damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,878 (GRCm39) |
T533S |
possibly damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,881,552 (GRCm39) |
K907N |
|
Het |
| Plaat5 |
G |
T |
19: 7,614,823 (GRCm39) |
M228I |
probably benign |
Het |
| Ppp1r15a |
A |
T |
7: 45,174,049 (GRCm39) |
V253E |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,887,467 (GRCm39) |
E493G |
probably benign |
Het |
| Prkcd |
C |
T |
14: 30,329,297 (GRCm39) |
A163T |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,849,994 (GRCm39) |
E26V |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 66,996,354 (GRCm39) |
N1278K |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,001,653 (GRCm39) |
S1248T |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,338,927 (GRCm39) |
I1186M |
probably damaging |
Het |
| Sv2a |
T |
C |
3: 96,094,409 (GRCm39) |
F248S |
probably benign |
Het |
| Tas2r116 |
T |
A |
6: 132,832,963 (GRCm39) |
I188K |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,693,671 (GRCm39) |
T169A |
probably benign |
Het |
| Tecrl |
C |
A |
5: 83,432,121 (GRCm39) |
C258F |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,193,360 (GRCm39) |
E358V |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,759,203 (GRCm39) |
S219T |
possibly damaging |
Het |
| Tpgs2 |
T |
A |
18: 25,301,777 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,219 (GRCm39) |
I1284F |
probably damaging |
Het |
| Vmn1r160 |
T |
C |
7: 22,571,127 (GRCm39) |
V160A |
possibly damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,671 (GRCm39) |
L139P |
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 |
|
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 |
|
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'- GAGCTCTCCAGGATAAGGGTAG -3'
(R):5'- TGATTCAGCGTGAGTCCCAC -3'
Sequencing Primer
(F):5'- CTCTCCAGGATAAGGGTAGTGGAG -3'
(R):5'- TCAGCAATGAGGCCTGGAGTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation