Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00657:Prdm1'

88905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdm1

Ensembl Gene

ENSMUSG00000038151

Gene Name

PR domain containing 1, with ZNF domain

Synonyms

Blimp-1, PRDI-BF1, Blimp1, b2b1765Clo

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00657

Quality Score

Status

Chromosome

Chromosomal Location

44313173-44404497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44317888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 327 (S327P)

Ref Sequence

ENSEMBL: ENSMUSP00000151237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039174] [ENSMUST00000105490] [ENSMUST00000218369]

AlphaFold

Q60636

Predicted Effect

probably benign
Transcript: ENSMUST00000039174
AA Change: S345P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: S345P

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: S312P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: S312P

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

noncoding transcript
Transcript: ENSMUST00000167340

Predicted Effect

probably damaging
Transcript: ENSMUST00000218369
AA Change: S327P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cntnap2	A	G	6: 46,965,721 (GRCm39)	D844G	probably damaging	Het
Krt7	A	G	15: 101,324,966 (GRCm39)		probably benign	Het
Lrig2	T	C	3: 104,374,487 (GRCm39)	E556G	probably damaging	Het
Mettl15	A	G	2: 108,923,552 (GRCm39)	I290T	probably damaging	Het
Mysm1	T	C	4: 94,848,602 (GRCm39)	E477G	probably benign	Het
Nasp	T	C	4: 116,461,416 (GRCm39)	Y234C	probably damaging	Het
Nipal2	A	G	15: 34,600,224 (GRCm39)	Y198H	probably damaging	Het
Nup153	T	A	13: 46,834,626 (GRCm39)		probably benign	Het
Rhobtb1	C	A	10: 69,106,051 (GRCm39)	D267E	probably damaging	Het
Sec31a	G	A	5: 100,551,876 (GRCm39)	Q166*	probably null	Het
Sphkap	A	G	1: 83,254,096 (GRCm39)	C931R	probably damaging	Het
Sytl2	A	G	7: 90,050,618 (GRCm39)	R695G	probably benign	Het
Usp31	A	G	7: 121,247,454 (GRCm39)	S1330P	probably benign	Het

Other mutations in Prdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03