Incidental Mutation 'R9176:Prdm1'
ID |
696689 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9176 (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 44316123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 671
(H671R)
|
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: H704R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039248 Gene: ENSMUSG00000038151 AA Change: H704R
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: H671R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101129 Gene: ENSMUSG00000038151 AA Change: H671R
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: H686R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (70/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
C |
5: 146,121,004 (GRCm39) |
D119G |
probably damaging |
Het |
1700123K08Rik |
T |
C |
5: 138,561,155 (GRCm39) |
D169G |
probably damaging |
Het |
Abcd2 |
T |
G |
15: 91,075,623 (GRCm39) |
R63S |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
Avil |
T |
C |
10: 126,852,248 (GRCm39) |
Y678H |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,010,852 (GRCm39) |
V1750E |
possibly damaging |
Het |
Cd300ld2 |
C |
A |
11: 114,904,772 (GRCm39) |
E32* |
probably null |
Het |
Chuk |
A |
T |
19: 44,076,442 (GRCm39) |
L423Q |
probably damaging |
Het |
Cisd3 |
A |
G |
11: 97,579,127 (GRCm39) |
T90A |
probably damaging |
Het |
Cmpk2 |
T |
A |
12: 26,524,027 (GRCm39) |
S275T |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,620,730 (GRCm39) |
N936K |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
T |
1: 82,463,349 (GRCm39) |
P1047Q |
unknown |
Het |
Col6a4 |
A |
G |
9: 105,938,755 (GRCm39) |
L1321P |
probably damaging |
Het |
Crat |
A |
G |
2: 30,297,892 (GRCm39) |
F211L |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,864,937 (GRCm39) |
Q27R |
|
Het |
Dapk1 |
T |
C |
13: 60,866,262 (GRCm39) |
V205A |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,158 (GRCm39) |
N729S |
probably benign |
Het |
Derl2 |
A |
G |
11: 70,904,376 (GRCm39) |
V139A |
possibly damaging |
Het |
Dscam |
C |
T |
16: 96,486,553 (GRCm39) |
D1041N |
probably benign |
Het |
Fbxo2 |
A |
T |
4: 148,250,147 (GRCm39) |
R226W |
probably damaging |
Het |
Fhip1b |
A |
C |
7: 105,030,585 (GRCm39) |
H180Q |
probably benign |
Het |
Fhip2b |
T |
C |
14: 70,826,540 (GRCm39) |
K183E |
probably benign |
Het |
Gpr19 |
A |
G |
6: 134,846,718 (GRCm39) |
S322P |
probably damaging |
Het |
Gvin2 |
T |
C |
7: 105,551,262 (GRCm39) |
K597E |
possibly damaging |
Het |
Herc6 |
A |
G |
6: 57,636,663 (GRCm39) |
N793S |
probably benign |
Het |
Ikbke |
A |
T |
1: 131,191,025 (GRCm39) |
S563T |
probably benign |
Het |
Il1r2 |
T |
C |
1: 40,144,478 (GRCm39) |
L55P |
probably damaging |
Het |
Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
Lims1 |
T |
G |
10: 58,254,265 (GRCm39) |
C340G |
probably damaging |
Het |
Loxl3 |
G |
A |
6: 83,026,292 (GRCm39) |
C460Y |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,763,565 (GRCm39) |
L152* |
probably null |
Het |
Mef2d |
T |
C |
3: 88,066,463 (GRCm39) |
V144A |
possibly damaging |
Het |
Mertk |
A |
G |
2: 128,620,892 (GRCm39) |
D578G |
possibly damaging |
Het |
Mettl1 |
C |
A |
10: 126,881,250 (GRCm39) |
Q254K |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,707 (GRCm39) |
E443G |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,138,241 (GRCm39) |
F484L |
probably damaging |
Het |
Neurl1b |
C |
T |
17: 26,660,055 (GRCm39) |
T425I |
possibly damaging |
Het |
Nomo1 |
G |
A |
7: 45,730,828 (GRCm39) |
V1104M |
possibly damaging |
Het |
Or13a19 |
G |
T |
7: 139,903,121 (GRCm39) |
G170C |
probably damaging |
Het |
Or13p8 |
T |
A |
4: 118,583,850 (GRCm39) |
Y135* |
probably null |
Het |
Or4c10b |
T |
C |
2: 89,711,515 (GRCm39) |
V115A |
probably benign |
Het |
Or5b95 |
A |
G |
19: 12,657,600 (GRCm39) |
M43V |
probably benign |
Het |
Or5p57 |
A |
G |
7: 107,665,246 (GRCm39) |
V223A |
probably benign |
Het |
Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
Or9i2 |
A |
G |
19: 13,815,796 (GRCm39) |
V247A |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,873,274 (GRCm39) |
K1173E |
possibly damaging |
Het |
Phkb |
T |
A |
8: 86,697,623 (GRCm39) |
N477K |
probably damaging |
Het |
Plekha7 |
T |
G |
7: 115,739,926 (GRCm39) |
I812L |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,941,651 (GRCm39) |
T1711A |
probably damaging |
Het |
Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
Pomt2 |
T |
A |
12: 87,194,451 (GRCm39) |
|
probably benign |
Het |
Prkca |
G |
A |
11: 107,870,244 (GRCm39) |
R15C |
possibly damaging |
Het |
Prkch |
T |
A |
12: 73,746,968 (GRCm39) |
N282K |
probably damaging |
Het |
Ptpn6 |
T |
C |
6: 124,702,249 (GRCm39) |
R385G |
probably benign |
Het |
Rad21 |
A |
T |
15: 51,841,455 (GRCm39) |
M87K |
probably damaging |
Het |
Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
T |
2: 66,103,689 (GRCm39) |
V1857E |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,036,320 (GRCm39) |
T386A |
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,598,229 (GRCm39) |
L94P |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,236,728 (GRCm39) |
N90D |
probably benign |
Het |
Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,089,363 (GRCm39) |
T584A |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,031,553 (GRCm39) |
N1124D |
probably null |
Het |
Trpv1 |
A |
T |
11: 73,130,481 (GRCm39) |
T196S |
probably benign |
Het |
Ulk4 |
T |
C |
9: 120,974,128 (GRCm39) |
E968G |
probably benign |
Het |
Zbtb8a |
G |
T |
4: 129,254,221 (GRCm39) |
T91K |
probably damaging |
Het |
Zfp317 |
T |
A |
9: 19,559,163 (GRCm39) |
V459E |
probably damaging |
Het |
Zfp790 |
A |
G |
7: 29,529,387 (GRCm39) |
T691A |
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 |
R9020:Prdm1
|
UTSW |
10 |
44,316,036 (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'- TCGCTGATGTCGAACCTCTC -3'
(R):5'- CTCCCGAGGTTTCTGGCTATTG -3'
Sequencing Primer
(F):5'- CAATTTCTTCATTGATTCGGGTCAG -3'
(R):5'- GCTGCAAACAATTAATCTGGTCTTCC -3'
|
Posted On |
2022-02-07 |